DONATE FOR US! WE WILL HELP PEOPLE WITH MUSCULAR DYSTROPHY IN ROMANIA, poor people with an allowance of 100 euro per month or less , that cannot afford even a decent life and treatments. Through our programs we will offer them a solution to be on their own. If only we had some money to start the courses of french and english language, arts and crafts, PC, accountancy and secretarial course, web promoter and drawing/peinture course.
DONATE FOR US! 35.000 PEOPLE WITH MUSCULAR DYSTROPHY WOULD FULFILL THEIR DREAMS FOR A PROFESIONAL CAREER FOR AN ACTIVE AND INDEPENDENT LIFE.
ASOCIATIA DISTROFICILOR MUSCULAR din ROMANIA
COD FISCAL: 8896012
cod IBAN lei: RO94RZBR0000060012378811
RAIFFEISEN BANK
str. Bailor,Nr. 197, Loc. Vâlcele, jud. Covasna,
Tel.: +4 0720.04.98.19
e-mail: admrvalcele06@yahoo.com
asociatiadistroficilormuscular@gmail.com
MARIA TEODORESCU, preşedinte
Tel. +4 0720.04.98.19
e-mail: maria_sirghi@yahoo.com
VOLUNTEER MEMBERS
DANIELA TONTSCH
e-mail: danielatontsch@yahoo.com
CATALINA-OANA DRUTA
e-mail: druta.oanacatalina@yahoo.com
sâmbătă, 17 aprilie 2010
MDA ROMANIA signed a partnership with the local hall
In December 2009, ADMR local Hall filed a letter of intent to terminate a partnership.
Partnership with City Valcele is a precondition for EU Funding the infrastructure grants.
Driven in partnership with city hall as recommended by the Council of Europe Committee of Ministers signed.
Today January 27, 2010 president of ADMR, Maria Teodorescu met with Mr. Mayor Dumitru Marinescu, both of which signed the Partnership gleaned:
ADMR is the developer" may remain useful to society! "Project for people with muscular dystrophy, to establish a training center and physical recovery.
ADMR aims to encourage educational and professional information among people with disabilities, but that activating and recovery center.
The main objectives of the project:
ADMR The project is committed to provide free assistance and advice to City Hall in the process of this agreement.
Assistance and advice will be given to the project:
• project implementation by financing non-reimbursable European funds;
• preparation and information campaign
• preparing and conducting training seminars to interested parties and local training team members.
• ensuring local team with equipment and consumables during project implementation;
• develop model contracts and making them available to the local council secretary.
The project, jointly with the Hall:
• to develop and use assessment methods to one implementation of the project;
• will carry out project development planning;
• assist owners and local team in implementing and recording project financing agreements;
The project will support the following types of expenses:
The secondary objectives of the project are:
-Increasing number of people with motor disabilities in normal schools and the involvement of this purpose.
-Improving the quality and perception of life for facilitating professional activities and for dealing in motor disabled persons are disadvantaged, appealing to the authorities responsible.
ROMANIAN PEOPLE WITH MUSCULAR DYSTROPHY NEED OUR SUPPORT
Muscular Distroficilor Association of Romania (MDA ROMANIA), based in Valcele needs help to raise funds for carrying out its business specific opportunity. The association aims primarily to promote the interests of its members through social integration of those suffering from muscular dystrophy.
MDA ROMANIA President, Maria Teodorescu, said that the problems of the organization is not only to revolved around the lack of money for the association programs but also there's a lack of money to create a suitable space for the disabled people especially those the suffer from muscular dystrophy disease.
Currently, the MDA ROMANIA activity takes place in the virtual world, as the bulding of the association after this cold winter is unusable. Association calls for investment in building rehabilitation, and equipment for heating fuel (LPG) and specific equipment maintenance distroficilor gymnastics. ( but this takes more time so we need everybody's support to create a better place for this disabled comunity in Romania )
The only income, Membership fees, 3 euros or 4 dollars
President MDA ROMANIA says that currently does not really have any financial situation, its only income comes from the membership fees - 3 euros or 4 dollars per person per year.
Beyond the urgent needs related to the heating and Rehabilitation of the Association there is a need for an entire modernization, by setting a recovery room, a leisure club with educational games for children and young people, a computer room and a mini library, which will serve including those admitted to the hospital Horia Radu in Valcele ( the only existent recovery center for muscular dystrophy people)
"If we talk about modernization, its headquarters said that this joint project needs to be realized with around 80,000 euros. We thought of accessing European funds, because the building is right in legally, the property of the Association, we have been promised help from City Hall of Valcele and hopefully help of donations. We do not necessarily want money, we could use building materials or donations of all sorts of things needed. We need furniture for bedrooms - including some for the camps that we want to organize for our members, we need new equipment to exercise, bathroom and kitchen equipment also. "said MDA ROMANIA President.
Ignored by our society,
In this context, Maria Teodorescu wanted to launch an appeal to all those who want to help the Association, asking them to this target of 2% of tax.
"We appeal to your goodwill, support and kindness, instead we are offering a smile and the gratitude of those oppressed by fate and the company ignores us all. Romania is going through a very difficult period, it is difficult for each of us to survive financially, but who still have a job, may direct that 2% of income tax to our Association, because any kind of aid is appreciated.
For those who want to provide support and assistance MDA ROMANIA, identification of the Association is:
Contact
ASOCIATIA DISTROFICILOR MUSCULAR din ROMANIA
COD FISCAL: 8896012
cod IBAN lei: RO94RZBR0000060012378811
RAIFFEISEN BANK
str. Bailor,Nr. 197, Loc. Vâlcele, jud. Covasna,
Tel.: +4 0720.04.98.19
e-mail: admrvalcele06@yahoo.com
asociatiadistroficilormuscular@gmail.com
MARIA TEODORESCU, preşedinte
Tel. +4 0720.04.98.19
e-mail: maria_sirghi@yahoo.com
VOLUNTEER MEMBERS
DANIELA TONTSCH
e-mail: danielatontsch@yahoo.com
CATALINA-OANA DRUTA
e-mail: druta.oanacatalina@yahoo.com
MDA ROMANIA President, Maria Teodorescu, said that the problems of the organization is not only to revolved around the lack of money for the association programs but also there's a lack of money to create a suitable space for the disabled people especially those the suffer from muscular dystrophy disease.
Currently, the MDA ROMANIA activity takes place in the virtual world, as the bulding of the association after this cold winter is unusable. Association calls for investment in building rehabilitation, and equipment for heating fuel (LPG) and specific equipment maintenance distroficilor gymnastics. ( but this takes more time so we need everybody's support to create a better place for this disabled comunity in Romania )
The only income, Membership fees, 3 euros or 4 dollars
President MDA ROMANIA says that currently does not really have any financial situation, its only income comes from the membership fees - 3 euros or 4 dollars per person per year.
Beyond the urgent needs related to the heating and Rehabilitation of the Association there is a need for an entire modernization, by setting a recovery room, a leisure club with educational games for children and young people, a computer room and a mini library, which will serve including those admitted to the hospital Horia Radu in Valcele ( the only existent recovery center for muscular dystrophy people)
"If we talk about modernization, its headquarters said that this joint project needs to be realized with around 80,000 euros. We thought of accessing European funds, because the building is right in legally, the property of the Association, we have been promised help from City Hall of Valcele and hopefully help of donations. We do not necessarily want money, we could use building materials or donations of all sorts of things needed. We need furniture for bedrooms - including some for the camps that we want to organize for our members, we need new equipment to exercise, bathroom and kitchen equipment also. "said MDA ROMANIA President.
Ignored by our society,
In this context, Maria Teodorescu wanted to launch an appeal to all those who want to help the Association, asking them to this target of 2% of tax.
"We appeal to your goodwill, support and kindness, instead we are offering a smile and the gratitude of those oppressed by fate and the company ignores us all. Romania is going through a very difficult period, it is difficult for each of us to survive financially, but who still have a job, may direct that 2% of income tax to our Association, because any kind of aid is appreciated.
For those who want to provide support and assistance MDA ROMANIA, identification of the Association is:
Contact
ASOCIATIA DISTROFICILOR MUSCULAR din ROMANIA
COD FISCAL: 8896012
cod IBAN lei: RO94RZBR0000060012378811
RAIFFEISEN BANK
str. Bailor,Nr. 197, Loc. Vâlcele, jud. Covasna,
Tel.: +4 0720.04.98.19
e-mail: admrvalcele06@yahoo.com
asociatiadistroficilormuscular@gmail.com
MARIA TEODORESCU, preşedinte
Tel. +4 0720.04.98.19
e-mail: maria_sirghi@yahoo.com
VOLUNTEER MEMBERS
DANIELA TONTSCH
e-mail: danielatontsch@yahoo.com
CATALINA-OANA DRUTA
e-mail: druta.oanacatalina@yahoo.com
We are looking for volunteers- MDA RO
My name is Oana Catalina Druta and I'm a volunteer member of the Association Distroficilor Muscular managerial office in Romania with headquarters in place. Valcele, Covasna County will submit a petition on behalf of muscular dystrophy patients to give us a free consultation to access grant funds on infrastructure: rehabilitation of the building where we want to activate and currently can not because they are humane. Initially we want to bring in front a creative workshop where disabled people will assert their talent through exhibitions of all creations. If you respond favorably to this request, 1200 people suffering from this disease will learn to smile. Our office is near the only hospital in the country to diagnose and monitor the muscular dystrophies. Imagine a form of escape when a person is in hospital. It is our important objective. The Association's activity is based on social model of disability, the fact that disability is the social consequence of disease and as such is society that must change to ensure full inclusion of persons with disabilities.
Like any other organization that must raise money to make themselves known in the community, to join the programs depend on sponsors, we have more work to be done. People need opportunities and to capitalize on the chances and those with special needs more, they need incentives, education, appreciation and respect.
Like any other organization that must raise money to make themselves known in the community, to join the programs depend on sponsors, we have more work to be done. People need opportunities and to capitalize on the chances and those with special needs more, they need incentives, education, appreciation and respect.
On 12 th of March, 2010, ADMR expressed an opinion...
During the National Conference of the Patients, MDA ROMANIA expressed its opinion according to the improvement of the medical services accorded to the dystrophics.
The body of delegates was made up of – Loloiu Iulian, Apreotesei Marian, Liteanu Zoica, Morosan Petru, Tontsch Peter Klaus, Tontsch Daniela. We thank them all.
We attach the discourse made by Druta Oana Catalina and Daniela Tontsch -
THE SITUATION OF THE PATIENTS WITH DISTROPHY
We greet and offer the organiser our congratulations according to this event as well as all the active participants in the improvement of the patients life from Romania.
In my discourse I directly refer to the distrophyc patients, who are born ill and that is why all the doctors from our country directed our steps towards the only hospital of this type which is to Valcele, Covasna county, led by doctor Radu Horia. His activity is made up of the developed neuro-muscle heredity which especially affects the child and the young adult. It was registered over 35000 cases of such affections.
To this moment, the Neuro-Muscle centre – DR . RADU HORIA – Hospital include 81 beds -60 beds for the adults and 21 for children.
A very serious problem of the distrophyc people is that they are refused to be in other hospitals where there are specialists for their therapy. As i mentioned before, there are 35000 of distrophycs and we know that 2916 would have the posibility to be hospitalzed for 30 days but from these persons 2835 people can not be hospitalized because there are not enough beds. It is known that this illness is characterized by the progressive deterioration of the muscles and invalidity. To all these the absence of the hospitals also contribute to the developing of this kind of affection.
In some kinds of distrophycal forms the miocard muscle is affected together with other organs and also these patients are refused to be hospitalized because this is the evolution of their illness and the doctors can not do anything for their remedy. We do not want to be misunderstood that we denigrate the medicine and their representatives, quite the contrary we ask their help whenever we need. I ca not help giving a personal experience- A few years ago I had a high fever, 38-39 degrees, I had an awful headache and sick. I called the ambulance and the doctor prescribed me anthibiotics. I took the treatment but my state was more and more worse. For 6 days I called the ambulance 6 times and by chance I met a trainee doctor who diagnosticated me corectly – acute appendicitis. She said the she had not wanted to leave without me because I immediately need hospitalization. After 15 minutes I was in the operate hall. I can not remember her name but I am alive because she accorded a serious attention to their studies and she knew to practice what she had learnt. I am very grateful to her and I am sure that she saved lives now on.
Coming back to the distrophy problems, we remind that a patient like this needs an accompanying permanently and where they are allowed to be hospitalized it is refused the permanently presence of the accompanying because there are enough medical staff to take care the patient. But it is not known that every patient has a different type of care . There is no calificated staff according to this type of illness and we do not pretend to be because we pay our accompanying who is calificated with the care of the persons with disabilities. We solicitate tolerance because we need a permanent accompanying during our hospitalized period. If these 2 needs are accepted there are solutions, too. It is inhumanely that an accompanying who is a member of the family to stay on a chair near the patient during his period in a hospital.
There are situations when the buildings, the rooms and the toilets from the hospital are not equipped with space of moving the wheelchairs, there are no ramps and elevators.
There is no curative treatment for the muscle distrofy, the existing medications and the therapy has the role of slowing down the evolution of the illness. The main medication is the therapy with vitamins but they are too expensive to use them quite often.
For that patient who is imobilized in a wheelchair, it is urgenly needed by the medical furniture such as a bathroom chair, the elevating of toilet and the tub chair. The nursing home does not pay us to buy all these things. The accompanying who raises up several times a day a person who is inert, he is at risk to become a patient, too.
The same problem is to buy an electric wheelchair because the nursing home has not enough money to do that. We admit that is too expensive but we solicitate to pay it by instalments. We informed about the facilities offered by other countries according to these acquisitions and we amaisingly descovered that these are offered by state and they are changed when they are made use of.
It is very important the existence of the centres with calificated staff for the care of the patients and we prove the great number of distrophics. There are many cases when they have no family or they have old parents who live in an asylum or maybe they do not have an accompanying. Fancy yourself such a life.
Imagine that you could not put on or eat by yourselves, to stay isolated in the house without seeing the sunrise or not to touch your ideals!
The highbrow compensates the severe, ireversible and progressive affection of the striate muscles.
We want to believe that these mentioned above were not known and we hope to be solutionated all these demands so that the distrophics can be useful in our society for their intellectuals capacities that are not affected by the terrible illness.
The body of delegates was made up of – Loloiu Iulian, Apreotesei Marian, Liteanu Zoica, Morosan Petru, Tontsch Peter Klaus, Tontsch Daniela. We thank them all.
We attach the discourse made by Druta Oana Catalina and Daniela Tontsch -
THE SITUATION OF THE PATIENTS WITH DISTROPHY
We greet and offer the organiser our congratulations according to this event as well as all the active participants in the improvement of the patients life from Romania.
In my discourse I directly refer to the distrophyc patients, who are born ill and that is why all the doctors from our country directed our steps towards the only hospital of this type which is to Valcele, Covasna county, led by doctor Radu Horia. His activity is made up of the developed neuro-muscle heredity which especially affects the child and the young adult. It was registered over 35000 cases of such affections.
To this moment, the Neuro-Muscle centre – DR . RADU HORIA – Hospital include 81 beds -60 beds for the adults and 21 for children.
A very serious problem of the distrophyc people is that they are refused to be in other hospitals where there are specialists for their therapy. As i mentioned before, there are 35000 of distrophycs and we know that 2916 would have the posibility to be hospitalzed for 30 days but from these persons 2835 people can not be hospitalized because there are not enough beds. It is known that this illness is characterized by the progressive deterioration of the muscles and invalidity. To all these the absence of the hospitals also contribute to the developing of this kind of affection.
In some kinds of distrophycal forms the miocard muscle is affected together with other organs and also these patients are refused to be hospitalized because this is the evolution of their illness and the doctors can not do anything for their remedy. We do not want to be misunderstood that we denigrate the medicine and their representatives, quite the contrary we ask their help whenever we need. I ca not help giving a personal experience- A few years ago I had a high fever, 38-39 degrees, I had an awful headache and sick. I called the ambulance and the doctor prescribed me anthibiotics. I took the treatment but my state was more and more worse. For 6 days I called the ambulance 6 times and by chance I met a trainee doctor who diagnosticated me corectly – acute appendicitis. She said the she had not wanted to leave without me because I immediately need hospitalization. After 15 minutes I was in the operate hall. I can not remember her name but I am alive because she accorded a serious attention to their studies and she knew to practice what she had learnt. I am very grateful to her and I am sure that she saved lives now on.
Coming back to the distrophy problems, we remind that a patient like this needs an accompanying permanently and where they are allowed to be hospitalized it is refused the permanently presence of the accompanying because there are enough medical staff to take care the patient. But it is not known that every patient has a different type of care . There is no calificated staff according to this type of illness and we do not pretend to be because we pay our accompanying who is calificated with the care of the persons with disabilities. We solicitate tolerance because we need a permanent accompanying during our hospitalized period. If these 2 needs are accepted there are solutions, too. It is inhumanely that an accompanying who is a member of the family to stay on a chair near the patient during his period in a hospital.
There are situations when the buildings, the rooms and the toilets from the hospital are not equipped with space of moving the wheelchairs, there are no ramps and elevators.
There is no curative treatment for the muscle distrofy, the existing medications and the therapy has the role of slowing down the evolution of the illness. The main medication is the therapy with vitamins but they are too expensive to use them quite often.
For that patient who is imobilized in a wheelchair, it is urgenly needed by the medical furniture such as a bathroom chair, the elevating of toilet and the tub chair. The nursing home does not pay us to buy all these things. The accompanying who raises up several times a day a person who is inert, he is at risk to become a patient, too.
The same problem is to buy an electric wheelchair because the nursing home has not enough money to do that. We admit that is too expensive but we solicitate to pay it by instalments. We informed about the facilities offered by other countries according to these acquisitions and we amaisingly descovered that these are offered by state and they are changed when they are made use of.
It is very important the existence of the centres with calificated staff for the care of the patients and we prove the great number of distrophics. There are many cases when they have no family or they have old parents who live in an asylum or maybe they do not have an accompanying. Fancy yourself such a life.
Imagine that you could not put on or eat by yourselves, to stay isolated in the house without seeing the sunrise or not to touch your ideals!
The highbrow compensates the severe, ireversible and progressive affection of the striate muscles.
We want to believe that these mentioned above were not known and we hope to be solutionated all these demands so that the distrophics can be useful in our society for their intellectuals capacities that are not affected by the terrible illness.
MDA ROMANIA celebrates 20 years of outliving
We are very happy as we have a moral supporter in the journalist Horia Deliu, who is the person raises us our spirits when we feel that we break down in our survival to be heard....
ADMR – 20 years of survival
29th 0f March, 2010
Hopes, strains, trobles but we do not make out the success. -
It seems to be yesterday. Although it passed 20 years, I perfectly remember the beginnings. Well, this month it is 20 years since ADMR was founded with the centre to Valcele. Together with the president Stelian Schipor – who at the present is a spokesman and according to his will the function as a leader is officiated by Mrs Maria Teodorescu, we set out our tumultous history of this organisation – it came into being since Revolution as an objective neccesity as all the pacients being in the wheelchair to be integrated with proudy and respect in the new society witch was to be forged then by comparison with the communist period.
At the beginning there was a group formed by some generous patients as Maria Molnar, Ioana Toderascu as well as some medical staff from Radu Horia hospital, Valcele – the doctors Mihai Popescu, Iulian Ionescu. They registered the new association with the CountyTribunal from Covasna and obtained legality with the approval of Department of Health.
Our period was not too easy – said Mr Stelian Schipor with objectivity, acoording to the last years. The mentality of the major people has not changed yet even it was 20 years since Revolution. All the members involved in the association, for example – the doctor Adriana Ghisoiu, doctor Iulian Ionescu, the engineer Iulian Loloiu, Daniel Colcer, Florinel Sfartz, Grigore Lungu, Steluta Diaconu, Mihaela Diaconu, Mihaela Nicolescu, Gheorgh Bratu do their best as this asociation survive.
Along years we achieved different direct contacts with abroad, we developped programmes together, more branches came into being like those from Arad – president Mihai Fighir – and Iasi – president Gheorghe Fighir.
Looking back with.....objectivity -
We actively involved in the building of the elevator from the Hospital of neuromuscle pathology -DR. Radu Horia – which was one of our grievances, because we were carried upstairs by someone.
We also managed to purchase a building in Valcele resort where we have many activities during the warm season but it is damaged inside because of the cold during winter. Not to mention many endowments we have done like a motor transport and many others during all these years.
Last year, in August, during the Yearly General Meeting, we elected a new team, which has the responsibility of developing new programes for our good association working.
Publicy thanks
To review I would propose to the Directory Office that during summer to organise at Valcele a festive Day dedicated to this important event – 20 years of hopes, strains, troubles -
In conclusion, on behalf of my name and my colleagues I worked so many years, we express thanks to all those who were by us, who contributted to all the association achieved. We express thank you, dear friends. Happy annversary, ADMR!
A sad matter of facts
That is true, there were many hopes, strains, troubles and also misunderstandings between members of the association. They are discontented with us, the civile society, the central and local authorithies, because our involvement was too short, too formal.
I confess this matter because I know very well the situation of ADMR as well as its foundation, trying to reflect the truth, the troubles about these tried people. With the only difference that the maliciousness and the disgust of some citizens are too strong according the persons with disabilities.
So, the so-named -hope – which is always evoked by the guvernments, is not caught sight of yet, or it only glimmers for the persons with disabilities, too. And, even if, we, the healthy people, survived as we can, imagine yourselves permanently dependent on somebody, in a wheelchair, all your life, as it says – a full stomach does not know what hunger is – .
HORIA C. DELIU
ADMR – 20 years of survival
29th 0f March, 2010
Hopes, strains, trobles but we do not make out the success. -
It seems to be yesterday. Although it passed 20 years, I perfectly remember the beginnings. Well, this month it is 20 years since ADMR was founded with the centre to Valcele. Together with the president Stelian Schipor – who at the present is a spokesman and according to his will the function as a leader is officiated by Mrs Maria Teodorescu, we set out our tumultous history of this organisation – it came into being since Revolution as an objective neccesity as all the pacients being in the wheelchair to be integrated with proudy and respect in the new society witch was to be forged then by comparison with the communist period.
At the beginning there was a group formed by some generous patients as Maria Molnar, Ioana Toderascu as well as some medical staff from Radu Horia hospital, Valcele – the doctors Mihai Popescu, Iulian Ionescu. They registered the new association with the CountyTribunal from Covasna and obtained legality with the approval of Department of Health.
Our period was not too easy – said Mr Stelian Schipor with objectivity, acoording to the last years. The mentality of the major people has not changed yet even it was 20 years since Revolution. All the members involved in the association, for example – the doctor Adriana Ghisoiu, doctor Iulian Ionescu, the engineer Iulian Loloiu, Daniel Colcer, Florinel Sfartz, Grigore Lungu, Steluta Diaconu, Mihaela Diaconu, Mihaela Nicolescu, Gheorgh Bratu do their best as this asociation survive.
Along years we achieved different direct contacts with abroad, we developped programmes together, more branches came into being like those from Arad – president Mihai Fighir – and Iasi – president Gheorghe Fighir.
Looking back with.....objectivity -
We actively involved in the building of the elevator from the Hospital of neuromuscle pathology -DR. Radu Horia – which was one of our grievances, because we were carried upstairs by someone.
We also managed to purchase a building in Valcele resort where we have many activities during the warm season but it is damaged inside because of the cold during winter. Not to mention many endowments we have done like a motor transport and many others during all these years.
Last year, in August, during the Yearly General Meeting, we elected a new team, which has the responsibility of developing new programes for our good association working.
Publicy thanks
To review I would propose to the Directory Office that during summer to organise at Valcele a festive Day dedicated to this important event – 20 years of hopes, strains, troubles -
In conclusion, on behalf of my name and my colleagues I worked so many years, we express thanks to all those who were by us, who contributted to all the association achieved. We express thank you, dear friends. Happy annversary, ADMR!
A sad matter of facts
That is true, there were many hopes, strains, troubles and also misunderstandings between members of the association. They are discontented with us, the civile society, the central and local authorithies, because our involvement was too short, too formal.
I confess this matter because I know very well the situation of ADMR as well as its foundation, trying to reflect the truth, the troubles about these tried people. With the only difference that the maliciousness and the disgust of some citizens are too strong according the persons with disabilities.
So, the so-named -hope – which is always evoked by the guvernments, is not caught sight of yet, or it only glimmers for the persons with disabilities, too. And, even if, we, the healthy people, survived as we can, imagine yourselves permanently dependent on somebody, in a wheelchair, all your life, as it says – a full stomach does not know what hunger is – .
HORIA C. DELIU
miercuri, 10 februarie 2010
Ullrich congenital muscular dystrophy
What is Ullrich congenital muscular dystrophy?
The congenital muscular dystrophies are a group of conditions which share early presentation and a similar appearance of the muscle. Congenital means ‘from birth’ and in congenital muscular dystrophy the initial symptoms are present at birth or in the first few months. Congenital muscular dystrophies are a very heterogeneous group of conditions and in the last few years a lot of effort has gone into identifying the separate entities and in locating the genes responsible for a number of these forms.
Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy with specific features:
• children are often double jointed in their hands and feet but have some tightness in other joints such as elbows or hips
• they have rigidity (stiffness) of the spine
• children tend to develop respiratory problems, which result in frequent chest infections and might require ventilatory support at night
The genes responsible for Ullrich congenital muscular dystrophy have recently been identified and lie on chromosomes 21 and 2. These 3 genes are responsible for the production of the protein collagen VI.
Which are the first signs?
Babies with UCMD often have hypotonia (low muscle tone or floppiness), and may have reduced movements. Other common signs are hip dislocation and a stiff neck (torticollis) and contractures (tightness) in the hips, knees and elbows. Some of these babies may also have feeding problems, which improve after a few weeks or months.
Sometimes the first signs are only noted after a few months when babies are observed to have poor head control or have a delay in learning new skills such as sitting unaided, crawling or walking.
Is UCMD Inherited?
Yes. The pattern of inheritance is known as ‘autosomal recessive’. This means that both parents are carriers of the condition (although clinically unaffected) and they have risk of 25%, or 1 in 4, in each pregnancy of passing the condition on to their children. Occasionally a case may be ‘sporadic’ which means is a one-off with little risk of recurrence in other children. However, the risk of recurrence in the offspring of these sporadic cases can be significant. All families with UCMD should be referred for genetic counselling.
How is UCMD diagnosed?
The diagnosis of UCMD is usually suspected from the history and examination. The specific diagnosis however is generally made by looking at a piece of muscle or skin (muscle and skin biopsy).
Before doing a muscle biopsy (which involves taking out a small piece of muscle, usually from the thigh) a few other tests may be done. One of these tests is a blood test which measures the level of a muscle protein (creatine kinase or CK) that however is generally only mildly raised. Muscle ultrasound may also help to detect abnormalities in the muscle. The technique is very simple, similar to the ultrasound studies carried out in pregnancy and may provide further evidence of the involvement of the muscle.
These tests provide a broad indication that there is a muscle problem but cannot pin-point the precise diagnosis. Muscle biopsy can provide a precise diagnosis in two ways:
• When the muscle is studied under the microscope, it is possible to look for signs, which might indicate a muscle problem. In children with a muscular dystrophy the muscle fibres, instead of being evenly sized, show a great variation and some of these fibres are replacedby fat and fibrous tissue.
• It is also possible to look at the presence of collagen VI in the muscle under the microscope. There are specific ‘tags’ which can interact with collagen VI and detect whether collagen VI is normally present or reduced. A reduction in collagen VI in a patient with evocative clinical features strongly suggests the possibility of Ullrich congenital muscular dystrophy. As collagen VI is normally present both in muscle and skin, taking a small piece of skin (skin biopsy) can also help to confirm the diagnosis. In some cases it is easier to detect a reduction of collagen VI on skin cells than on muscle cells. Taking a piece of skin however cannot provide some of the information that one can achieve with a muscle biopsy and it is therefore important to have both muscle and skin biopsies to obtain all the information needed.
The illustration overleaf shows where collagen VI is produced in the muscle fibres. In the upper part of the illustration, a number of relevant extracellular proteins and their interactions are showed. Collagen VI interacts, among other proteins, with biglycan and eventually with dystrolgycan. Dystroglycan is in turn associated, intracellularly, with the protein dystrophin. Genetic tests looking for abnormalities in one of the 3 genes responsible for Ullrich congenital muscular dystrophy are now available and provide the ultimate diagnosis. These tests however are still only done on a research basis and are very time consuming. The results are often only available after many months.
Prenatal diagnosis is a promising development in the diagnosis of inherited conditions. It is based on the ability to detect the abnormality in the developing foetus. In families who have a child with Ullrich congenital muscular dystrophy who decide to have another baby it is possible to detect whether the baby has deficiency of collagen VI and/or the same gene defect early in pregnancy.
Is there a treatment or cure?
At the moment there is no cure for congenital muscular dystrophy, but there are ways, described below, of helping to alleviate the effects of the condition.
Can a child with UCMD learn to walk?
The severity of this condition varies greatly from person to person. Some children will walk but sometimes this can be delayed. Children who have successfully walked may lose the ability later on because as they grow taller and heavier, their muscles are unable to cope with a greater strain. Leg splints (callipers) are often used to assist the child to walk.
Other children never achieve the ability to walk independently but can only stand and walk with
leg splints.
What other physical effects might Ullrich CMD have on a child?
As the muscles are weak and mobility is limited, the child may be born with or develop ‘contractures’, this means that the muscle tendons tighten up and the child is unable to move the limbs or the joints as freely as a healthy child. Physiotherapy can help prevent this and a programme of exercises which may be carried out daily by parents at home should be worked out with a physiotherapist very soon after diagnosis.
Even a very young baby can be helped to maintain suppleness. Hips are commonly affected and if they are dislocated this may require treatment with a splint or, only very, rarely surgery.
Most of the children with Ullrich congenital muscular dystrophy also develop a curvature of the spine (scoliosis)
As collagen VI is also normally present in the skin, children may have a tendency for scars to heal slowly or become thickened and elevated (keloid formation).
Is UCMD progressive and is it life threatening?
In the first years the condition is fairly stable and the child usually appears to gain strength as he
or she gets older. Motor function remains relatively stable but when children reach puberty, might experience increasing difficulties, as muscles find it difficult to cope with the greater strain
of increased weight and height.
Children who have achieved independent walking often need some help at this age and long leg callipers are often provided to assist them to walk.
While motor function remains relatively stable or only slowly progressive, children often experience breathing problems at night because the muscles which assist breathing are affected. It is therefore very important to monitor this function on a regular basis by performing ‘sleep studies’. This test is very simple and consists in applying a small wrapping around one finger. The wrapping is connected to a small machine which records the level of oxygen throughout the night. Night time breathing problems may happen in children of any age and, when present, children feel tired, often have headaches on waking in the morning, may feel sleepy during the day and lose appetite and weight. Another problem can also be that of frequent chest infections. If these signs are present or if the level of oxygen recorded at night are not satisfactory, children can be helped by referring them to a respiratory physician who will provide a means of supporting breathing at night (ventilator). This usually requires a special facial or nasal mask attached to a small machine which pumps air in and out of the lungs. Another frequent problem after the first few years is failure to thrive and it is therefore also important to monitor weight and height to be sure that children with Ullrich congenital muscular dystrophy receive enough food and energy. In several cases feeding supplements are needed. Sometimes a small surgical procedure called gastrostomy can be performed to help the child to receive the appropriate level of feeding to maintain his or her weight.
What help is available?
Physiotherapy is one of the main forms of help. An initial physiotherapy assessment at the time of the diagnosis should be followed by an exercise programme and regular check-ups. The main aim of physiotherapy is to keep the muscles as active as possible and to prevent the formation of contractures (muscle tendon tightness causing restriction in the range of joint movement). Children are encouraged to remain as active as possible. Swimming is a particular good form of exercise.
Physiotherapy can also help provide orthoses, such as splints and long leg callipers and a wheel chair when necessary.
It is also important to provide a proper sitting and standing posture to prevent curvature of the spine (scoliosis). If a curvature occurs a spinal brace may help to prevent further deterioration of
the curvature. Surgical intervention (scoliosis surgery) might be needed in some cases.
The congenital muscular dystrophies are a group of conditions which share early presentation and a similar appearance of the muscle. Congenital means ‘from birth’ and in congenital muscular dystrophy the initial symptoms are present at birth or in the first few months. Congenital muscular dystrophies are a very heterogeneous group of conditions and in the last few years a lot of effort has gone into identifying the separate entities and in locating the genes responsible for a number of these forms.
Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy with specific features:
• children are often double jointed in their hands and feet but have some tightness in other joints such as elbows or hips
• they have rigidity (stiffness) of the spine
• children tend to develop respiratory problems, which result in frequent chest infections and might require ventilatory support at night
The genes responsible for Ullrich congenital muscular dystrophy have recently been identified and lie on chromosomes 21 and 2. These 3 genes are responsible for the production of the protein collagen VI.
Which are the first signs?
Babies with UCMD often have hypotonia (low muscle tone or floppiness), and may have reduced movements. Other common signs are hip dislocation and a stiff neck (torticollis) and contractures (tightness) in the hips, knees and elbows. Some of these babies may also have feeding problems, which improve after a few weeks or months.
Sometimes the first signs are only noted after a few months when babies are observed to have poor head control or have a delay in learning new skills such as sitting unaided, crawling or walking.
Is UCMD Inherited?
Yes. The pattern of inheritance is known as ‘autosomal recessive’. This means that both parents are carriers of the condition (although clinically unaffected) and they have risk of 25%, or 1 in 4, in each pregnancy of passing the condition on to their children. Occasionally a case may be ‘sporadic’ which means is a one-off with little risk of recurrence in other children. However, the risk of recurrence in the offspring of these sporadic cases can be significant. All families with UCMD should be referred for genetic counselling.
How is UCMD diagnosed?
The diagnosis of UCMD is usually suspected from the history and examination. The specific diagnosis however is generally made by looking at a piece of muscle or skin (muscle and skin biopsy).
Before doing a muscle biopsy (which involves taking out a small piece of muscle, usually from the thigh) a few other tests may be done. One of these tests is a blood test which measures the level of a muscle protein (creatine kinase or CK) that however is generally only mildly raised. Muscle ultrasound may also help to detect abnormalities in the muscle. The technique is very simple, similar to the ultrasound studies carried out in pregnancy and may provide further evidence of the involvement of the muscle.
These tests provide a broad indication that there is a muscle problem but cannot pin-point the precise diagnosis. Muscle biopsy can provide a precise diagnosis in two ways:
• When the muscle is studied under the microscope, it is possible to look for signs, which might indicate a muscle problem. In children with a muscular dystrophy the muscle fibres, instead of being evenly sized, show a great variation and some of these fibres are replacedby fat and fibrous tissue.
• It is also possible to look at the presence of collagen VI in the muscle under the microscope. There are specific ‘tags’ which can interact with collagen VI and detect whether collagen VI is normally present or reduced. A reduction in collagen VI in a patient with evocative clinical features strongly suggests the possibility of Ullrich congenital muscular dystrophy. As collagen VI is normally present both in muscle and skin, taking a small piece of skin (skin biopsy) can also help to confirm the diagnosis. In some cases it is easier to detect a reduction of collagen VI on skin cells than on muscle cells. Taking a piece of skin however cannot provide some of the information that one can achieve with a muscle biopsy and it is therefore important to have both muscle and skin biopsies to obtain all the information needed.
The illustration overleaf shows where collagen VI is produced in the muscle fibres. In the upper part of the illustration, a number of relevant extracellular proteins and their interactions are showed. Collagen VI interacts, among other proteins, with biglycan and eventually with dystrolgycan. Dystroglycan is in turn associated, intracellularly, with the protein dystrophin. Genetic tests looking for abnormalities in one of the 3 genes responsible for Ullrich congenital muscular dystrophy are now available and provide the ultimate diagnosis. These tests however are still only done on a research basis and are very time consuming. The results are often only available after many months.
Prenatal diagnosis is a promising development in the diagnosis of inherited conditions. It is based on the ability to detect the abnormality in the developing foetus. In families who have a child with Ullrich congenital muscular dystrophy who decide to have another baby it is possible to detect whether the baby has deficiency of collagen VI and/or the same gene defect early in pregnancy.
Is there a treatment or cure?
At the moment there is no cure for congenital muscular dystrophy, but there are ways, described below, of helping to alleviate the effects of the condition.
Can a child with UCMD learn to walk?
The severity of this condition varies greatly from person to person. Some children will walk but sometimes this can be delayed. Children who have successfully walked may lose the ability later on because as they grow taller and heavier, their muscles are unable to cope with a greater strain. Leg splints (callipers) are often used to assist the child to walk.
Other children never achieve the ability to walk independently but can only stand and walk with
leg splints.
What other physical effects might Ullrich CMD have on a child?
As the muscles are weak and mobility is limited, the child may be born with or develop ‘contractures’, this means that the muscle tendons tighten up and the child is unable to move the limbs or the joints as freely as a healthy child. Physiotherapy can help prevent this and a programme of exercises which may be carried out daily by parents at home should be worked out with a physiotherapist very soon after diagnosis.
Even a very young baby can be helped to maintain suppleness. Hips are commonly affected and if they are dislocated this may require treatment with a splint or, only very, rarely surgery.
Most of the children with Ullrich congenital muscular dystrophy also develop a curvature of the spine (scoliosis)
As collagen VI is also normally present in the skin, children may have a tendency for scars to heal slowly or become thickened and elevated (keloid formation).
Is UCMD progressive and is it life threatening?
In the first years the condition is fairly stable and the child usually appears to gain strength as he
or she gets older. Motor function remains relatively stable but when children reach puberty, might experience increasing difficulties, as muscles find it difficult to cope with the greater strain
of increased weight and height.
Children who have achieved independent walking often need some help at this age and long leg callipers are often provided to assist them to walk.
While motor function remains relatively stable or only slowly progressive, children often experience breathing problems at night because the muscles which assist breathing are affected. It is therefore very important to monitor this function on a regular basis by performing ‘sleep studies’. This test is very simple and consists in applying a small wrapping around one finger. The wrapping is connected to a small machine which records the level of oxygen throughout the night. Night time breathing problems may happen in children of any age and, when present, children feel tired, often have headaches on waking in the morning, may feel sleepy during the day and lose appetite and weight. Another problem can also be that of frequent chest infections. If these signs are present or if the level of oxygen recorded at night are not satisfactory, children can be helped by referring them to a respiratory physician who will provide a means of supporting breathing at night (ventilator). This usually requires a special facial or nasal mask attached to a small machine which pumps air in and out of the lungs. Another frequent problem after the first few years is failure to thrive and it is therefore also important to monitor weight and height to be sure that children with Ullrich congenital muscular dystrophy receive enough food and energy. In several cases feeding supplements are needed. Sometimes a small surgical procedure called gastrostomy can be performed to help the child to receive the appropriate level of feeding to maintain his or her weight.
What help is available?
Physiotherapy is one of the main forms of help. An initial physiotherapy assessment at the time of the diagnosis should be followed by an exercise programme and regular check-ups. The main aim of physiotherapy is to keep the muscles as active as possible and to prevent the formation of contractures (muscle tendon tightness causing restriction in the range of joint movement). Children are encouraged to remain as active as possible. Swimming is a particular good form of exercise.
Physiotherapy can also help provide orthoses, such as splints and long leg callipers and a wheel chair when necessary.
It is also important to provide a proper sitting and standing posture to prevent curvature of the spine (scoliosis). If a curvature occurs a spinal brace may help to prevent further deterioration of
the curvature. Surgical intervention (scoliosis surgery) might be needed in some cases.
Oculopharyngeal muscular dystrophy (OPMD)
The term muscular dystrophy is used to cover a wide range of conditions which have in common progressive muscle weakness due to an inherited genetic defect (mutation). There is huge variation in severity between the different conditions. Some present in very early childhood and progress to severe disability, whereas others can be extremely mild and not problematic even in old age. Each type relates to a specific genetic abnormality and if more than one family member is affected they each have the same type of muscular dystrophy. It has been recognised for many years that some patients with muscle disease have particular problems with the muscles around the eyes, although other parts of the body can also be involved. Whilst research is continuing, it appears that most of these patients have either oculopharyngeal muscular dystrophy (OPMD), the subject of this factsheet, or mitochondrial chronic progressive external ophthalmoplegia (CPEO). Often, when patients first present, it may not be clear whether the patient has OPMD or CPEO but specific investigations can differentiate between the two. The medical terms relating to these conditions may cause the lay person some confusion. They include: ptosis, external ophthalmoplegia, diplopia and dysphagia. Ptosis - this describes drooping of the eyelids due to weakness of the muscle that normally lifts up the eyelid. External ophthalmoplegia - this means weakness and restriction of muscle movement around the eye (external to the eye). It shows as slowness and incomplete range of movement of the eyes, and includes the eyelid muscle weakness that causes ptosis. These problems typically progress very slowly, hence the term 'chronic progressive external ophthalmoplegia'. Diplopia - this simply means double vision and occurs when the eye muscles on each side arenot affected equally, so that the eyes point in slightly different directions.
Dysphagia - this means difficulty in swallowing. When mild, it may simply be a feeling of food sticking in the throat, but patients with severe dysphagia may not be able to swallow at all and can even choke on their own saliva.
Symptoms and signs
Although the abnormal gene causing OPMD is present from birth, patients do not usually develop symptoms until the fifth or sixth decade of life. The first sign of the disorder is usually ptosis, but occasionally it is dysphagia. Very slowly, over many years, these problems progress. There is progressive restriction of eye movements and in rare cases this can lead to diplopia. The increasing ptosis may lead to the eyelid covering the pupil and impairing vision, and in an effort to compensate for this the forehead muscle becomes overactive, trying to help to lift up the eyelids, giving a frowning appearance, and the patient adopts a rather characteristic posture with the head tilted backwards. Dysphagia, which is initially mainly for solid and dry foods, progresses slowly and eventually
even swallowing fluids, including saliva, may become a problem. If dysphagia is severe there is a danger of aspiration (food, drink or saliva "going down the wrong way" - into the chest rather than stomach) which greatly increases the risk of a chest infection. After many years the patient may become aware of limb weakness, first around the shoulders and later around the hips. This is usually relatively mild but can occasionally be severe and disabling, many years after the first onset of symptoms. Facial weakness may develop, and be commented upon by the specialist, but rarely causes any particular problems. Life expectancy is little, if at all, altered.
Management
There is no specific treatment for OPMD, but much can be done to help the main symptoms of ptosis and dysphagia. Glasses can be fitted with fine metal bars (ptosis props) that lift up the drooping eyelids. If these are unacceptable, and if the ptosis is severe, surgical elevation of the eyelids can be very successful – several procedures are possible and should be tailored to the individual patient.
Mild dysphagia can be helped by suitable attention to the consistency of the diet (with a dietician's advice) and by exercises taught by a speech therapist. In more severe cases, a relatively minor operation called cricopharyngeal myotomy, which cuts one of the throat muscles
internally, can be valuable. Another approach that is sometimes helpful is to inflate a balloon to dilate the gullet. But as for all surgical procedures there are potential hazards and the final choice of treatment depends upon many individual factors. Recently there have been a few reports of the use of botulinum toxin injections; rather than cut or stretch a muscle, the toxin relaxes the muscle and that can aid swallowing. However, further studies are needed to see whether this will prove to be a useful long-term treatment. If the dysphagia is preventing adequate nutrition or there is a risk of aspiration pneumonia, then alternative methods of feeding can be used. The most acceptable, in the long term, is gastrostomy. A minor operation is used to pass a tube through the front of the abdomen directly into the stomach. Patients and their relatives find this easy to manage at home. If the normal diet is compromised, then a dietitian can offer advice with respect to supplements which can help to maintain adequate nutrition.
Physiotherapy may be useful to help patients cope with limb weakness, although this is usually mild, and to reduce the risk of chest problems.
How is OPMD inherited?
In almost all cases the condition is inherited as an autosomal dominant disorder which means that each child of an affected individual has a 50% risk of inheriting the same condition. It is now possible, through a blood test, to determine whether somebody has inherited the abnormal gene (called PABPN1) but that is not always terribly helpful. Even if somebody has inherited the abnormal gene, it is impossible to predict when, if ever, they will develop symptoms. Such testing should only be performed after detailed discussion with a suitably experienced neurologist or genetic counsellor.
Diagnosis
The diagnosis can be confirmed by a blood test that identifies the underlying genetic abnormality. Electrical tests (EMG) and muscle biopsy are now rarely necessary.
Is there any research being conducted into OPMD?
The genetic fault that causes OPMD was identified in 1998. Although this was a very important discovery, which has given us a simple diagnostic test, it is likely to be some considerable time before the research allows us to identify a specific treatment for this condition. In the meantime, there is a great deal of research trying to identify how the genetic fault causes the physical problem. Since 1998 over 100 research papers on OPMD have been published. Whilst none of these have yet led to a major change in management, they should be regarded as the building blocks for progress in the future.
Mitochondrial chronic external ophthalmoplegia (CPEO)
As mentioned above, this condition can be confused with OPMD. It is often sporadic (i.e. occurs in an individual with no family history of a similar condition) but occasionally is inherited so that there is a history of similarly affected relatives.
In CPEO the restriction of eye movements tends to be much more severe than in OPMD, but diplopia is still uncommon. As in OPMD, ptosis can be marked. Dysphagia is less common in CPEO than OPMD. Limb muscle weakness can be similar to that in OPMD, but may be more severe, and associated with exercise-intolerance.
Mitochondrial disorders can also affect other organs giving rise to deafness, diabetes, heart problems, and brain problems including epilepsy and dementia.
Other factsheets that may be useful
• Gastrostomy
• Mitochondrial myopathy (for more information on CPEO)
Dysphagia - this means difficulty in swallowing. When mild, it may simply be a feeling of food sticking in the throat, but patients with severe dysphagia may not be able to swallow at all and can even choke on their own saliva.
Symptoms and signs
Although the abnormal gene causing OPMD is present from birth, patients do not usually develop symptoms until the fifth or sixth decade of life. The first sign of the disorder is usually ptosis, but occasionally it is dysphagia. Very slowly, over many years, these problems progress. There is progressive restriction of eye movements and in rare cases this can lead to diplopia. The increasing ptosis may lead to the eyelid covering the pupil and impairing vision, and in an effort to compensate for this the forehead muscle becomes overactive, trying to help to lift up the eyelids, giving a frowning appearance, and the patient adopts a rather characteristic posture with the head tilted backwards. Dysphagia, which is initially mainly for solid and dry foods, progresses slowly and eventually
even swallowing fluids, including saliva, may become a problem. If dysphagia is severe there is a danger of aspiration (food, drink or saliva "going down the wrong way" - into the chest rather than stomach) which greatly increases the risk of a chest infection. After many years the patient may become aware of limb weakness, first around the shoulders and later around the hips. This is usually relatively mild but can occasionally be severe and disabling, many years after the first onset of symptoms. Facial weakness may develop, and be commented upon by the specialist, but rarely causes any particular problems. Life expectancy is little, if at all, altered.
Management
There is no specific treatment for OPMD, but much can be done to help the main symptoms of ptosis and dysphagia. Glasses can be fitted with fine metal bars (ptosis props) that lift up the drooping eyelids. If these are unacceptable, and if the ptosis is severe, surgical elevation of the eyelids can be very successful – several procedures are possible and should be tailored to the individual patient.
Mild dysphagia can be helped by suitable attention to the consistency of the diet (with a dietician's advice) and by exercises taught by a speech therapist. In more severe cases, a relatively minor operation called cricopharyngeal myotomy, which cuts one of the throat muscles
internally, can be valuable. Another approach that is sometimes helpful is to inflate a balloon to dilate the gullet. But as for all surgical procedures there are potential hazards and the final choice of treatment depends upon many individual factors. Recently there have been a few reports of the use of botulinum toxin injections; rather than cut or stretch a muscle, the toxin relaxes the muscle and that can aid swallowing. However, further studies are needed to see whether this will prove to be a useful long-term treatment. If the dysphagia is preventing adequate nutrition or there is a risk of aspiration pneumonia, then alternative methods of feeding can be used. The most acceptable, in the long term, is gastrostomy. A minor operation is used to pass a tube through the front of the abdomen directly into the stomach. Patients and their relatives find this easy to manage at home. If the normal diet is compromised, then a dietitian can offer advice with respect to supplements which can help to maintain adequate nutrition.
Physiotherapy may be useful to help patients cope with limb weakness, although this is usually mild, and to reduce the risk of chest problems.
How is OPMD inherited?
In almost all cases the condition is inherited as an autosomal dominant disorder which means that each child of an affected individual has a 50% risk of inheriting the same condition. It is now possible, through a blood test, to determine whether somebody has inherited the abnormal gene (called PABPN1) but that is not always terribly helpful. Even if somebody has inherited the abnormal gene, it is impossible to predict when, if ever, they will develop symptoms. Such testing should only be performed after detailed discussion with a suitably experienced neurologist or genetic counsellor.
Diagnosis
The diagnosis can be confirmed by a blood test that identifies the underlying genetic abnormality. Electrical tests (EMG) and muscle biopsy are now rarely necessary.
Is there any research being conducted into OPMD?
The genetic fault that causes OPMD was identified in 1998. Although this was a very important discovery, which has given us a simple diagnostic test, it is likely to be some considerable time before the research allows us to identify a specific treatment for this condition. In the meantime, there is a great deal of research trying to identify how the genetic fault causes the physical problem. Since 1998 over 100 research papers on OPMD have been published. Whilst none of these have yet led to a major change in management, they should be regarded as the building blocks for progress in the future.
Mitochondrial chronic external ophthalmoplegia (CPEO)
As mentioned above, this condition can be confused with OPMD. It is often sporadic (i.e. occurs in an individual with no family history of a similar condition) but occasionally is inherited so that there is a history of similarly affected relatives.
In CPEO the restriction of eye movements tends to be much more severe than in OPMD, but diplopia is still uncommon. As in OPMD, ptosis can be marked. Dysphagia is less common in CPEO than OPMD. Limb muscle weakness can be similar to that in OPMD, but may be more severe, and associated with exercise-intolerance.
Mitochondrial disorders can also affect other organs giving rise to deafness, diabetes, heart problems, and brain problems including epilepsy and dementia.
Other factsheets that may be useful
• Gastrostomy
• Mitochondrial myopathy (for more information on CPEO)
Nemaline (rod) myopathies
Nemaline, or rod, myopathies are a group of conditions which fall under the umbrella of congenital myopathies. They are characterised by rod-like structures in the muscle cells, and clinical features such as muscle weakness, breathing problems, and feeding problems. There are 6 sub-groups which are defined according to age of onset and severity. Around 1 in 50,000 individuals are estimated to be affected, and these include both males and females. There is currently no effective treatment or cure to halt the progression, but management of the condition is very important and includes physiotherapy, and where necessary the use of ventilation and/or a feeding tube.
What is nemaline myopathy?
Nemaline myopathies, or rod body myopathies, are a group of conditions which fall under the category of congenital myopathies. There are a number of different types of rod myopathies and they affect both males and females. In the majority of cases (90%) the condition becomes apparent at birth or early childhood, although in very rare cases, it does not become apparent until adulthood. Rod myopathies are estimated to affect 1 in 50,000 individuals.
What causes it?
In the majority of cases, a rod myopathy is inherited, although there are sometimes sporadic cases where there are no other family members affected. There have been mutations identified in 5 different genes, which cause a rod myopathies. The protein products of all of these genes are involved in muscle tone and contraction.
ACTA1 - This gene produces a protein called α- actin. Mutations in this gene account for around 15-25% of cases. Errors in this gene are inherited in an autosomal dominant or autosomal recessive pattern.
NEM2 - The product of this gene is a protein called nebulin. It is thought that mutations in this gene are a common cause of nemaline myopathy but definite statistics are unavailable. Mutations in this gene are inherited in an autosomal recessive pattern.
TPM3 - The product of this gene is a protein called α- Tropomyosin 3. Mutations in this gene account for only 2-3% of affected individuals, and are inherited in an autosomal dominant or autosomal recessive pattern.
TPM2 - This gene encodes a protein called β-Tropomyosin. Only very few individuals have been identified with errors in this gene. Inheritance is in a autosomal dominant pattern. TNNT1 - This gene produces a protein called Troponin 1. Errors in this gene have only been identified in a population of Old Order Amish individuals. Inheritance is in an autosomal recessive pattern.
What are the common features?
There are six sub-groups of nemaline myopathy which are defined based on age of onset and severity of condition, although there is a high degree of overlap between the conditions. There does not seem to be a correlation between severity of the condition and the gene which has the mutation.
Although heart problems are not common in people with a rod myopathy, it is important that cardiac function is regularly monitored.
The six sub-groups are described in the table below. Sub-group Onset
Clinical signs Severe congenital form
Birth Severe floppiness and muscle weakness
Little spontaneous movement Difficulties with sucking and swallowing
Severe breathing problems
Death usually occurs early
Amish nemaline
myopathy
Birth Floppiness/hypotonia
Contractures/ tightening of joints
Breathing problems
Death usually within 2 years of life
Intermediate
congenital form
Birth Severity in-between severe and mild forms
Early development of contractures/ tightening of
joints
Delayed motor milestones
Independent breathing at birth
Use of ventilatory support and/or wheelchair by
11 years
Typical (mild)
congenital form
Birth →
1 year
Floppiness/ hypotonia
Weakness in muscles closest to trunk, and
sometimes spreading to more distal muscles.
Feeding difficulties
Some respiratory weakness, but less severe
than other forms
Childhood-onset 8 → 15
years
Early motor development normal
Symmetrical weakness of ankle including foot
drop
Slowly progressive weakness with eventual
involvement of all ankle movement.
Motor development normal
Adult-onset 20 → 50
years
Generalised weakness with rapid progression
Muscle pain
Sometimes severe neck weakness
Usually no previous family history
How is it diagnosed?
• Muscle biopsy - Generally, diagnosis is made through a muscle biopsy. A sample of muscle is taken, and examined under a microscope. This is done in one of two ways: either a small piece of muscle is taken under general anaesthetic or a needle biopsy is performed to remove a small sample. Muscle from people affected by nemaline myopathy has a distinctive pattern with thin thread- or rod-like structures in the muscle cells. It is important to note that these structures are also seen in other, unrelated conditions. For this reason, the muscle sample must be considered along with the physical signs and/or molecular tests, in order for a diagnosis of nemaline myopathy to be made. A factsheet on Muscle biopsies is available from the Information and Support Line, or from the website at www.musculardystrophy. org
• Molecular testing - In families where the mutation is known to occur in the gene for α- actin, molecular testing is available. This involves taking a blood sample and analysing the DNA for the presence of a mutation. The gene is “read” from end to end, and this sequence is compared to a normal α- actin sequence. This process can take up to several weeks to complete. Once this error has been identified in one family member, it is possible to use this sequence to diagnose other family members.
What other tests are available?
Prenatal diagnosis - Prenatal diagnosis is available for families where the mutation has been identified as being in the gene for α- actin, and the precise nature of the mutation established. The technique is described in the section Molecular testing, but there are two ways to obtain samples for testing:
• Amniocentesis is traditionally performed at 15 to 17 weeks into the pregnancy. Using ultrasound to visualise, a needle is inserted through the abdominal wall, and a sample of the fluid surrounding the baby (amniotic fluid) is taken.
• Chorionic villus sampling (CVS) is carried out at 10 to 11 weeks. This involves taking a sample of tissue from the placenta. Results are available earlier using this technique than amniocentesis, but the rate of spontaneous abortion is slightly higher.
Carrier testing - As with prenatal diagnosis, carrier testing is currently only available for families where a mutation in the α- actin has been identified and characterised.
How will it progress?
The progression of these conditions is variable, and some may progress more quickly then others. Generally it is accepted that the earlier the onset, the more severe the condition. For children who live beyond the early years, only some will lose the ability to walk. Respiratory function is thought to improve over time, with the most severe problems occurring earlier in life.
Is there a treatment?
There is currently no effective treatment to halt the progression of the nemaline myopathies, but management of the condition is very important for prolonging life.
• Night time ventilation - Breathing problems are common with the nemaline myopathies,
and thus respiratory function should be regularly monitored. A decrease in oxygen intake can lead to, among other things, headaches, breathlessness, poor appetite and disturbed sleep. Night time ventilation involves the use of a face mask attached to a small machine, which assists in breathing. This aids the muscles which control breathing, and allows a greater intake of oxygen. Night time ventilation may be beneficial to people with a rod body myopathy, but this should be discussed fully with a consultant to determine whether it is appropriate.
• Feeding tube (or gastrostomy) - This is a tube that goes into the stomach through the stomach wall and enables a person to be given food and fluids by passing them directly into the stomach via the tube. People with a myopathy may have problems with swallowing which can lead to choking and inhalation of food. This can results in chest infections. A feeding tube prevents this from happening. There are a number of different types of feeding tube which are available, and these are fitted by a short surgical procedure. A factsheet on Gastrostomy is available from the Information and Support Line, or from the website at www.muscular-dystrophy.org
• Physiotherapy - The primary aim of an individual with a neuromuscular disorder is to increase or at least maintain function and mobility. Physiotherapy can assist in doing this, and it can also maintain breathing capacity, delay the onset of curvature of the spine (scoliosis), and help prevent the development of contractures. It is important that the physiotherapist involved is familiar with the treatment of people with neuromuscular disorders.
• Exercise - There is debate over whether people with neuromuscular disorders should undertake strenuous physical exercise. Some say that putting additional strain on already weakened muscles will cause additional harm, whilst others believe that the exercise may increase muscle strength. Insufficient evidence exists to support either, but it is believed that moderate non-weight bearing exercise such as swimming, walking or peddling may be the best solution. This sort of aerobic exercise helps to maintain a healthy cardiovascular system and a steady weight. It is however, important that this is discussed fully with a clinician.
• Antibiotics - Chest infections are common with the nemaline myopathies and complications with breathing can lead to a variety of other problems, including lethargy, headaches, and poor appetite. Antibiotics are used to treat chest infections. There are a variety of antibiotics available, and a GP will be able to advise on the most suitable. If there is a tendency to chest infections it is worth considering pneumovax (prevenar in children under two years) and the flu vaccine.
Is there a cure?
Currently there is no cure for the nemaline myopathies although much research is being currently being conducted into the myopathies, including the rod body myopathies. Although there is no effective treatment to halt the progression, there are a couple of different ways in which to manage the symptoms of the nemaline myopathies and these are outlined above.
What research is currently being done?
Researchers world-wide are exploring many avenues in an attempt to develop more effective treatments and hopefully a cure. The research department at the Muscular Dystrophy Campaign, regularly monitors research advances in the congenital myopathies, and produces releases which are sent to members when significant scientific advances occur.
Planning for the future?
Nemaline myopathies are progressive conditions which means that the needs of individuals with the condition will change with time.
There are a number of things which should be considered:
• Education
• Holidays
• Home adaptations
• Ventilation
• Wheelchairs
More information on any of these topics can be obtained by contacting the Information and Support Line.
Other things to consider
• Anaesthetics - It has now been recognised that the use of both local and general anaesthetics in people with neuromuscular disorders, can cause a variety of different problems. Although anaesthetics are generally well tolerated by people with a nemaline myopathy, due to the nature of the anaesthetic drugs used, problems can include dysfunction of the heart, and relaxation of the muscles round the lungs causing problems with breathing. Generally if a patient is properly assessed and monitored, the risks associated with anaesthetic use are low, but it is very important that the medical professionals involved are fully aware of the muscle condition.
• Medical alert card - It is very important that health professionals are aware of your condition should you require treatment. There are often issues they will have to consider. Many companies are able to provide a Medic Alert Card, which can be carried to advise of any medical condition. These come in the form of bracelets, pendants etc and carry essential information.
• Pregnancy - Pregnancy and delivery are generally well tolerated in mothers with nemaline myopathy. It is however, important to monitor breathing and heart function, and consideration should be given to any muscle weakness of contractures which may complicate the delivery.
What is nemaline myopathy?
Nemaline myopathies, or rod body myopathies, are a group of conditions which fall under the category of congenital myopathies. There are a number of different types of rod myopathies and they affect both males and females. In the majority of cases (90%) the condition becomes apparent at birth or early childhood, although in very rare cases, it does not become apparent until adulthood. Rod myopathies are estimated to affect 1 in 50,000 individuals.
What causes it?
In the majority of cases, a rod myopathy is inherited, although there are sometimes sporadic cases where there are no other family members affected. There have been mutations identified in 5 different genes, which cause a rod myopathies. The protein products of all of these genes are involved in muscle tone and contraction.
ACTA1 - This gene produces a protein called α- actin. Mutations in this gene account for around 15-25% of cases. Errors in this gene are inherited in an autosomal dominant or autosomal recessive pattern.
NEM2 - The product of this gene is a protein called nebulin. It is thought that mutations in this gene are a common cause of nemaline myopathy but definite statistics are unavailable. Mutations in this gene are inherited in an autosomal recessive pattern.
TPM3 - The product of this gene is a protein called α- Tropomyosin 3. Mutations in this gene account for only 2-3% of affected individuals, and are inherited in an autosomal dominant or autosomal recessive pattern.
TPM2 - This gene encodes a protein called β-Tropomyosin. Only very few individuals have been identified with errors in this gene. Inheritance is in a autosomal dominant pattern. TNNT1 - This gene produces a protein called Troponin 1. Errors in this gene have only been identified in a population of Old Order Amish individuals. Inheritance is in an autosomal recessive pattern.
What are the common features?
There are six sub-groups of nemaline myopathy which are defined based on age of onset and severity of condition, although there is a high degree of overlap between the conditions. There does not seem to be a correlation between severity of the condition and the gene which has the mutation.
Although heart problems are not common in people with a rod myopathy, it is important that cardiac function is regularly monitored.
The six sub-groups are described in the table below. Sub-group Onset
Clinical signs Severe congenital form
Birth Severe floppiness and muscle weakness
Little spontaneous movement Difficulties with sucking and swallowing
Severe breathing problems
Death usually occurs early
Amish nemaline
myopathy
Birth Floppiness/hypotonia
Contractures/ tightening of joints
Breathing problems
Death usually within 2 years of life
Intermediate
congenital form
Birth Severity in-between severe and mild forms
Early development of contractures/ tightening of
joints
Delayed motor milestones
Independent breathing at birth
Use of ventilatory support and/or wheelchair by
11 years
Typical (mild)
congenital form
Birth →
1 year
Floppiness/ hypotonia
Weakness in muscles closest to trunk, and
sometimes spreading to more distal muscles.
Feeding difficulties
Some respiratory weakness, but less severe
than other forms
Childhood-onset 8 → 15
years
Early motor development normal
Symmetrical weakness of ankle including foot
drop
Slowly progressive weakness with eventual
involvement of all ankle movement.
Motor development normal
Adult-onset 20 → 50
years
Generalised weakness with rapid progression
Muscle pain
Sometimes severe neck weakness
Usually no previous family history
How is it diagnosed?
• Muscle biopsy - Generally, diagnosis is made through a muscle biopsy. A sample of muscle is taken, and examined under a microscope. This is done in one of two ways: either a small piece of muscle is taken under general anaesthetic or a needle biopsy is performed to remove a small sample. Muscle from people affected by nemaline myopathy has a distinctive pattern with thin thread- or rod-like structures in the muscle cells. It is important to note that these structures are also seen in other, unrelated conditions. For this reason, the muscle sample must be considered along with the physical signs and/or molecular tests, in order for a diagnosis of nemaline myopathy to be made. A factsheet on Muscle biopsies is available from the Information and Support Line, or from the website at www.musculardystrophy. org
• Molecular testing - In families where the mutation is known to occur in the gene for α- actin, molecular testing is available. This involves taking a blood sample and analysing the DNA for the presence of a mutation. The gene is “read” from end to end, and this sequence is compared to a normal α- actin sequence. This process can take up to several weeks to complete. Once this error has been identified in one family member, it is possible to use this sequence to diagnose other family members.
What other tests are available?
Prenatal diagnosis - Prenatal diagnosis is available for families where the mutation has been identified as being in the gene for α- actin, and the precise nature of the mutation established. The technique is described in the section Molecular testing, but there are two ways to obtain samples for testing:
• Amniocentesis is traditionally performed at 15 to 17 weeks into the pregnancy. Using ultrasound to visualise, a needle is inserted through the abdominal wall, and a sample of the fluid surrounding the baby (amniotic fluid) is taken.
• Chorionic villus sampling (CVS) is carried out at 10 to 11 weeks. This involves taking a sample of tissue from the placenta. Results are available earlier using this technique than amniocentesis, but the rate of spontaneous abortion is slightly higher.
Carrier testing - As with prenatal diagnosis, carrier testing is currently only available for families where a mutation in the α- actin has been identified and characterised.
How will it progress?
The progression of these conditions is variable, and some may progress more quickly then others. Generally it is accepted that the earlier the onset, the more severe the condition. For children who live beyond the early years, only some will lose the ability to walk. Respiratory function is thought to improve over time, with the most severe problems occurring earlier in life.
Is there a treatment?
There is currently no effective treatment to halt the progression of the nemaline myopathies, but management of the condition is very important for prolonging life.
• Night time ventilation - Breathing problems are common with the nemaline myopathies,
and thus respiratory function should be regularly monitored. A decrease in oxygen intake can lead to, among other things, headaches, breathlessness, poor appetite and disturbed sleep. Night time ventilation involves the use of a face mask attached to a small machine, which assists in breathing. This aids the muscles which control breathing, and allows a greater intake of oxygen. Night time ventilation may be beneficial to people with a rod body myopathy, but this should be discussed fully with a consultant to determine whether it is appropriate.
• Feeding tube (or gastrostomy) - This is a tube that goes into the stomach through the stomach wall and enables a person to be given food and fluids by passing them directly into the stomach via the tube. People with a myopathy may have problems with swallowing which can lead to choking and inhalation of food. This can results in chest infections. A feeding tube prevents this from happening. There are a number of different types of feeding tube which are available, and these are fitted by a short surgical procedure. A factsheet on Gastrostomy is available from the Information and Support Line, or from the website at www.muscular-dystrophy.org
• Physiotherapy - The primary aim of an individual with a neuromuscular disorder is to increase or at least maintain function and mobility. Physiotherapy can assist in doing this, and it can also maintain breathing capacity, delay the onset of curvature of the spine (scoliosis), and help prevent the development of contractures. It is important that the physiotherapist involved is familiar with the treatment of people with neuromuscular disorders.
• Exercise - There is debate over whether people with neuromuscular disorders should undertake strenuous physical exercise. Some say that putting additional strain on already weakened muscles will cause additional harm, whilst others believe that the exercise may increase muscle strength. Insufficient evidence exists to support either, but it is believed that moderate non-weight bearing exercise such as swimming, walking or peddling may be the best solution. This sort of aerobic exercise helps to maintain a healthy cardiovascular system and a steady weight. It is however, important that this is discussed fully with a clinician.
• Antibiotics - Chest infections are common with the nemaline myopathies and complications with breathing can lead to a variety of other problems, including lethargy, headaches, and poor appetite. Antibiotics are used to treat chest infections. There are a variety of antibiotics available, and a GP will be able to advise on the most suitable. If there is a tendency to chest infections it is worth considering pneumovax (prevenar in children under two years) and the flu vaccine.
Is there a cure?
Currently there is no cure for the nemaline myopathies although much research is being currently being conducted into the myopathies, including the rod body myopathies. Although there is no effective treatment to halt the progression, there are a couple of different ways in which to manage the symptoms of the nemaline myopathies and these are outlined above.
What research is currently being done?
Researchers world-wide are exploring many avenues in an attempt to develop more effective treatments and hopefully a cure. The research department at the Muscular Dystrophy Campaign, regularly monitors research advances in the congenital myopathies, and produces releases which are sent to members when significant scientific advances occur.
Planning for the future?
Nemaline myopathies are progressive conditions which means that the needs of individuals with the condition will change with time.
There are a number of things which should be considered:
• Education
• Holidays
• Home adaptations
• Ventilation
• Wheelchairs
More information on any of these topics can be obtained by contacting the Information and Support Line.
Other things to consider
• Anaesthetics - It has now been recognised that the use of both local and general anaesthetics in people with neuromuscular disorders, can cause a variety of different problems. Although anaesthetics are generally well tolerated by people with a nemaline myopathy, due to the nature of the anaesthetic drugs used, problems can include dysfunction of the heart, and relaxation of the muscles round the lungs causing problems with breathing. Generally if a patient is properly assessed and monitored, the risks associated with anaesthetic use are low, but it is very important that the medical professionals involved are fully aware of the muscle condition.
• Medical alert card - It is very important that health professionals are aware of your condition should you require treatment. There are often issues they will have to consider. Many companies are able to provide a Medic Alert Card, which can be carried to advise of any medical condition. These come in the form of bracelets, pendants etc and carry essential information.
• Pregnancy - Pregnancy and delivery are generally well tolerated in mothers with nemaline myopathy. It is however, important to monitor breathing and heart function, and consideration should be given to any muscle weakness of contractures which may complicate the delivery.
Myotubular (centronuclear) myopathy
Myotubular, or centronuclear, myopathy falls under the umbrella of congenital myopathies. It is characterised by a specific pattern in the muscle tissue when viewed under a microscope. There are three different types of myotubular myopathy, described according to the pattern of inheritance seen. Each of these is very rare. There is currently no effective treatment or cure for myotubular myopathy, but management of the condition is very important and includes physiotherapy, and where necessary the use of ventilation and/or a feeding tube.
What is myotubular myopathy?
Myotubular, or centronuclear, myopathy belongs to the family of congenital myopathies which are characterised by muscle weakness. Congenital means “from birth” and myotubular myopathy is generally apparent very early in life. Myotubular myopathy is so named because of the presence of structures that look like myotubes, immature muscle cells.
What causes it?
There are three different types of myotubular myopathy each defined by the pattern of inheritance seen. There are also sporadic cases where there is no previous family history, but the prevalence of these has not yet been determined. X-linked myotubular myopathy (or XMTM) -This is the most common form of myotubular myopathy, and is caused by an error in the myotubularin (MTM1) gene which produces a protein called myotubularin. This protein is known to be required in m uscle development, for the formation of adult muscle.
The MTM1 gene is located on the X chromosome. Individuals have 46 chromosomes, two of which are called the sex chromosomes. Females have two copies of the X chromosome whilst males have one copy of X and one copy of the Y chromosome. If a female has an error on one copy of her X chromosomes, usually she will have enough protein from the “good” chromosome to compensate for the error, and will not have the condition. Manifesting carriers are the exception to this rule (see later section).
If males have the error on their X chromosome, they have no “good” gene to compensate and they will have the condition.
Autosomal dominant myotubular myopathy - This pattern of inheritance is very rare and only a few families have been described with this condition. The gene abnormality causing the condition was very recently identified by researchers in Paris; it is called the Dynamin 2 gene (DNM2). Autosomal dominant inheritance means that only one copy of the genetic error is needed to cause the condition, and one good copy cannot compensate. This form of the condition affects both males and females.
Autosomal recessive myotubular myopathy -This pattern of inheritance is also very rare. As with the autosomal dominant form, the gene involved has not been identified, but is expected to have a similar function to the myotubularin gene.
Autosomal recessive means that, in order for a person to be affected, he or she must have two copies of the genetic error. Each parent must carry a copy of the error, but usually they do not show any signs of the condition. This form of the condition also affects males and females.
What are the common features?
X-linked myotubular myopathy (or XMTM) - This is the most severe form of myotubular myopathy. It generally affects only males, and has the earliest onset. Commonly there are signs of the condition before the baby is born, and often an excessive accumulation of amniotic fluid around the baby is seen. Most individuals are born with severe floppiness (hypotonia), muscle weakness, and infants may fail to breathe spontaneously at birth, most will require breathing support. There are usually problems with feeding, in particular swallowing, and breathing problems can persist. Chest infections may occur frequently. The child may have a long face, which could seem expressionless. The eyelids may be puffy, and some of the muscles in the eyes may not function correctly. There may be tightening of the knee and ankle joints (contractures).
The severity of the condition varies considerably. In many cases death occurs in the first few months. Some children who survive infancy may show improvement in the first few years, although many will be severely disabled. Many of these children will require ventilatory support to assist their breathing. Occasionally, some children improve significantly and are left with only mild residual weakness even into adulthood.
Female manifesting carriers of XMTM - Manifesting carriers of myotubular myopathy are very rare. As mentioned earlier, every female has two copies of the X chromosome. In every cell, one copy is “switched off”. Usually this is random, but in some exceptional cases, more copies of the “good” chromosome are inactivated. In such cases a female may show signs of the condition, but this is likely to be only mild weakness. Autosomal recessive myotubular myopathy - This is the intermediate form, with onset occurring in infancy or early childhood. Weakness of the muscles in the face may occur, as may droopiness of the eyelids. Some people may have problems with feeding. There is usually weakness of the proximal muscles (those closest to the trunk of the body).
Autosomal dominant myotubular myopathy - Onset of this form is very variable, ranging from birth to 30 years. It is not as severe as X-linked, and the condition generally follows a mild course. There is weakness of the muscles closest to the trunk of the body, although some people may show weakness of the more distal muscles. A problem with the heart has been seen in one person previously, and so is rare. It is, however, important to regularly monitor heart and lung function.
How is it diagnosed?
The clinical signs are usually the first indication that there is a problem with the muscles. In order to confirm the diagnosis a muscle biopsy is required. Muscle biopsy - This is done in one of two ways: either an open biopsy where small piece of muscle is taken under general anaesthetic or a needle biopsy is performed under local anaesthetic to remove a small sample. The sample will be analysed under a microscope. Muscle from people affected by myotubular myopathy shows a characteristic pattern, similar to that seen in foetal muscle. The nuclei are centrally located (hence the name centronuclear) instead of being at the outer edges of the fibres. A factsheet on muscle biopsies is available from the Information and Support Line (contact details are shown below).
• Molecular testing - This is only available for X-linked myotubular myopathy, testing for the dynamin mutation will become available in the future. It seems likely that the genetic cause for the X linked form will be identified in the future. DNA testing involves taking a blood sample and analysing the DNA for the presence of a mutation. The gene is either “read” from end to end, and this sequence is compared to a normal MTM1 sequence, or only certain sections of the gene are analysed. This process can take up to several weeks to complete. Once this error has been identified in one family member, it is possible to use this sequence to diagnose other family members.
What other tests are available?
Prenatal diagnosis is available for families that are known to have a history of X-linked myotubular myopathy. The technique is described in the section Molecular testing, but there are
two ways to obtain samples for testing:
• Amniocentesis is traditionally performed at 15 to 17 weeks into the pregnancy. Using ultrasound to visualise, a needle is inserted through the abdominal wall, and a sample of the fluid surrounding the baby (amniotic fluid) is taken.
• Chorionic villus sampling (CVS) is carried out at 10 to 11 weeks. This involves taking a sample of tissue from the placenta. Results are available earlier using this technique than amniocentesis, but the rate of spontaneous abortion is slightly higher. Carrier testing - As with prenatal diagnosis, carrier testing is currently only available for families known to be affected by the X-linked form of myotubular myopathy.
How will it progress?
Myotubular myopathy is a non-progressive or slowly progressive condition. However, infants with X-linked myotubular myopathy may progress into respiratory failure rapidly and the majority of those who survive beyond infancy are dependent on artificial respiration. The autosomal forms are usually less severe.
Is there a treatment?
There is currently no effective treatment for myotubular myopathy, but management of the condition is very important for prolonging life.
• Night time ventilation - Breathing problems can occur with myotubular myopathy, and thus respiratory function should be regularly monitored. A decrease in oxygen intake can lead to, among other things, headaches, breathlessness, poor appetite and disturbed sleep. Night time ventilation involves the use of a face mask attached to a small machine, which assists in breathing. This aids the muscles which control breathing, and allows a greater intake of oxygen. Night time ventilation may be beneficial to people with myotubular myopathy, but this should be discussed fully with a consultant to determine whether it is appropriate.
• Feeding tube (or gastrostomy) - This is a tube that goes into the stomach through the stomach wall and enables a person to be given food and fluids by passing them directly into the stomach via the tube. People with a myopathy may have problems with swallowing which can lead to choking and inhalation of food. This can result in chest infections. A feeding tube prevents this from happening. There are a number of different types of feeding tube which are available, and these are fitted by a short surgical procedure. A factsheet on gastrostomy is available from the Information and Support Line.
• Physiotherapy - The primary aim of an individual with a neuromuscular disorder is to increase or at least maintain function and mobility. Physiotherapy can assist in doing this, and it can also maintain breathing capacity, delay the onset of curvature of the spine (scoliosis), and help prevent the development of contractures. It is important that the physiotherapist involved is familiar with the treatment of people with neuromuscular disorders.
• Exercise - There is debate over whether people with neuromuscular disorders should undertake strenuous physical exercise. Some say that putting additional strain on already weakened muscles will cause additional harm, whilst others believe that the exercise may increase muscle strength. Insufficient evidence exists to support either, but it is believed that moderate non-weight bearing exercise such as swimming, walking or peddling may be the best solution. This sort of aerobic exercise helps to maintain a healthy cardiovascular system and a steady weight. It is however, important that this is discussed fully with a clinician.
• Antibiotics - Chest infections are common with myotubular myopathy and complications with breathing can lead to a variety of other problems, including lethargy, headaches, and poor appetite. Antibiotics are used to treat chest infections. There are a variety of antibiotics available, and a GP will be able to advise on the most suitable. If there is a tendency to chest infections it is worth considering pneumovax (prevenar in children under two years) and the flu vaccine.
Is there a cure?
Currently there is no cure for myotubular myopathy although much research is being conducted into the congenital myopathies, including myotubular. Although there is no effective treatment for the condition, there are a couple of different ways in which to manage the symptoms of myotubular myopathy and these are outlined above.
What research is currently being done?
Researchers world-wide are exploring many avenues in an attempt to develop more effective treatments and hopefully a cure. The research department at the Muscular Dystrophy Campaign, regularly monitors research advances in the congenital myopathies, and produces research updates, which are sent to members when significant scientific advances occur.
Planning for the future?
Myotubular myopathy, although thought to be non-progressive, may change with time, especially as the child grows. This means that the needs of individuals with the condition may change over time.
There are a number of things which should be considered:
• Wheelchairs
• Home adaptations
• Education
• Ventilation
• Holidays
More information on any of these topics can be obtained by contacting the Information and Support Line.
Other things to consider
• Anaesthetics - It has now been recognised that the use of general anaesthetics in people with neuromuscular disorders, can cause a variety of different problems. Although anaesthetics are generally well tolerated by people with myotubular myopathy, due to the nature of the anaesthetic drugs used, problems can include dysfunction of the heart, and relaxation of the muscles round the lungs causing problems with breathing. Generally if a patient is properly assessed and monitored, the risks associated with anaesthetic use are low, but it is very important that the medical professionals involved are fully aware of the muscle condition.
• Medical alert card - It is very important that health professionals are aware of your condition should you require treatment. There are often issues they will have to consider. Many companies are able to provide a Medic Alert Card, which can be carried to advise of any medical condition. These come in the form of bracelets, pendants etc and carry essential information.
that provide alert cards.
What is myotubular myopathy?
Myotubular, or centronuclear, myopathy belongs to the family of congenital myopathies which are characterised by muscle weakness. Congenital means “from birth” and myotubular myopathy is generally apparent very early in life. Myotubular myopathy is so named because of the presence of structures that look like myotubes, immature muscle cells.
What causes it?
There are three different types of myotubular myopathy each defined by the pattern of inheritance seen. There are also sporadic cases where there is no previous family history, but the prevalence of these has not yet been determined. X-linked myotubular myopathy (or XMTM) -This is the most common form of myotubular myopathy, and is caused by an error in the myotubularin (MTM1) gene which produces a protein called myotubularin. This protein is known to be required in m uscle development, for the formation of adult muscle.
The MTM1 gene is located on the X chromosome. Individuals have 46 chromosomes, two of which are called the sex chromosomes. Females have two copies of the X chromosome whilst males have one copy of X and one copy of the Y chromosome. If a female has an error on one copy of her X chromosomes, usually she will have enough protein from the “good” chromosome to compensate for the error, and will not have the condition. Manifesting carriers are the exception to this rule (see later section).
If males have the error on their X chromosome, they have no “good” gene to compensate and they will have the condition.
Autosomal dominant myotubular myopathy - This pattern of inheritance is very rare and only a few families have been described with this condition. The gene abnormality causing the condition was very recently identified by researchers in Paris; it is called the Dynamin 2 gene (DNM2). Autosomal dominant inheritance means that only one copy of the genetic error is needed to cause the condition, and one good copy cannot compensate. This form of the condition affects both males and females.
Autosomal recessive myotubular myopathy -This pattern of inheritance is also very rare. As with the autosomal dominant form, the gene involved has not been identified, but is expected to have a similar function to the myotubularin gene.
Autosomal recessive means that, in order for a person to be affected, he or she must have two copies of the genetic error. Each parent must carry a copy of the error, but usually they do not show any signs of the condition. This form of the condition also affects males and females.
What are the common features?
X-linked myotubular myopathy (or XMTM) - This is the most severe form of myotubular myopathy. It generally affects only males, and has the earliest onset. Commonly there are signs of the condition before the baby is born, and often an excessive accumulation of amniotic fluid around the baby is seen. Most individuals are born with severe floppiness (hypotonia), muscle weakness, and infants may fail to breathe spontaneously at birth, most will require breathing support. There are usually problems with feeding, in particular swallowing, and breathing problems can persist. Chest infections may occur frequently. The child may have a long face, which could seem expressionless. The eyelids may be puffy, and some of the muscles in the eyes may not function correctly. There may be tightening of the knee and ankle joints (contractures).
The severity of the condition varies considerably. In many cases death occurs in the first few months. Some children who survive infancy may show improvement in the first few years, although many will be severely disabled. Many of these children will require ventilatory support to assist their breathing. Occasionally, some children improve significantly and are left with only mild residual weakness even into adulthood.
Female manifesting carriers of XMTM - Manifesting carriers of myotubular myopathy are very rare. As mentioned earlier, every female has two copies of the X chromosome. In every cell, one copy is “switched off”. Usually this is random, but in some exceptional cases, more copies of the “good” chromosome are inactivated. In such cases a female may show signs of the condition, but this is likely to be only mild weakness. Autosomal recessive myotubular myopathy - This is the intermediate form, with onset occurring in infancy or early childhood. Weakness of the muscles in the face may occur, as may droopiness of the eyelids. Some people may have problems with feeding. There is usually weakness of the proximal muscles (those closest to the trunk of the body).
Autosomal dominant myotubular myopathy - Onset of this form is very variable, ranging from birth to 30 years. It is not as severe as X-linked, and the condition generally follows a mild course. There is weakness of the muscles closest to the trunk of the body, although some people may show weakness of the more distal muscles. A problem with the heart has been seen in one person previously, and so is rare. It is, however, important to regularly monitor heart and lung function.
How is it diagnosed?
The clinical signs are usually the first indication that there is a problem with the muscles. In order to confirm the diagnosis a muscle biopsy is required. Muscle biopsy - This is done in one of two ways: either an open biopsy where small piece of muscle is taken under general anaesthetic or a needle biopsy is performed under local anaesthetic to remove a small sample. The sample will be analysed under a microscope. Muscle from people affected by myotubular myopathy shows a characteristic pattern, similar to that seen in foetal muscle. The nuclei are centrally located (hence the name centronuclear) instead of being at the outer edges of the fibres. A factsheet on muscle biopsies is available from the Information and Support Line (contact details are shown below).
• Molecular testing - This is only available for X-linked myotubular myopathy, testing for the dynamin mutation will become available in the future. It seems likely that the genetic cause for the X linked form will be identified in the future. DNA testing involves taking a blood sample and analysing the DNA for the presence of a mutation. The gene is either “read” from end to end, and this sequence is compared to a normal MTM1 sequence, or only certain sections of the gene are analysed. This process can take up to several weeks to complete. Once this error has been identified in one family member, it is possible to use this sequence to diagnose other family members.
What other tests are available?
Prenatal diagnosis is available for families that are known to have a history of X-linked myotubular myopathy. The technique is described in the section Molecular testing, but there are
two ways to obtain samples for testing:
• Amniocentesis is traditionally performed at 15 to 17 weeks into the pregnancy. Using ultrasound to visualise, a needle is inserted through the abdominal wall, and a sample of the fluid surrounding the baby (amniotic fluid) is taken.
• Chorionic villus sampling (CVS) is carried out at 10 to 11 weeks. This involves taking a sample of tissue from the placenta. Results are available earlier using this technique than amniocentesis, but the rate of spontaneous abortion is slightly higher. Carrier testing - As with prenatal diagnosis, carrier testing is currently only available for families known to be affected by the X-linked form of myotubular myopathy.
How will it progress?
Myotubular myopathy is a non-progressive or slowly progressive condition. However, infants with X-linked myotubular myopathy may progress into respiratory failure rapidly and the majority of those who survive beyond infancy are dependent on artificial respiration. The autosomal forms are usually less severe.
Is there a treatment?
There is currently no effective treatment for myotubular myopathy, but management of the condition is very important for prolonging life.
• Night time ventilation - Breathing problems can occur with myotubular myopathy, and thus respiratory function should be regularly monitored. A decrease in oxygen intake can lead to, among other things, headaches, breathlessness, poor appetite and disturbed sleep. Night time ventilation involves the use of a face mask attached to a small machine, which assists in breathing. This aids the muscles which control breathing, and allows a greater intake of oxygen. Night time ventilation may be beneficial to people with myotubular myopathy, but this should be discussed fully with a consultant to determine whether it is appropriate.
• Feeding tube (or gastrostomy) - This is a tube that goes into the stomach through the stomach wall and enables a person to be given food and fluids by passing them directly into the stomach via the tube. People with a myopathy may have problems with swallowing which can lead to choking and inhalation of food. This can result in chest infections. A feeding tube prevents this from happening. There are a number of different types of feeding tube which are available, and these are fitted by a short surgical procedure. A factsheet on gastrostomy is available from the Information and Support Line.
• Physiotherapy - The primary aim of an individual with a neuromuscular disorder is to increase or at least maintain function and mobility. Physiotherapy can assist in doing this, and it can also maintain breathing capacity, delay the onset of curvature of the spine (scoliosis), and help prevent the development of contractures. It is important that the physiotherapist involved is familiar with the treatment of people with neuromuscular disorders.
• Exercise - There is debate over whether people with neuromuscular disorders should undertake strenuous physical exercise. Some say that putting additional strain on already weakened muscles will cause additional harm, whilst others believe that the exercise may increase muscle strength. Insufficient evidence exists to support either, but it is believed that moderate non-weight bearing exercise such as swimming, walking or peddling may be the best solution. This sort of aerobic exercise helps to maintain a healthy cardiovascular system and a steady weight. It is however, important that this is discussed fully with a clinician.
• Antibiotics - Chest infections are common with myotubular myopathy and complications with breathing can lead to a variety of other problems, including lethargy, headaches, and poor appetite. Antibiotics are used to treat chest infections. There are a variety of antibiotics available, and a GP will be able to advise on the most suitable. If there is a tendency to chest infections it is worth considering pneumovax (prevenar in children under two years) and the flu vaccine.
Is there a cure?
Currently there is no cure for myotubular myopathy although much research is being conducted into the congenital myopathies, including myotubular. Although there is no effective treatment for the condition, there are a couple of different ways in which to manage the symptoms of myotubular myopathy and these are outlined above.
What research is currently being done?
Researchers world-wide are exploring many avenues in an attempt to develop more effective treatments and hopefully a cure. The research department at the Muscular Dystrophy Campaign, regularly monitors research advances in the congenital myopathies, and produces research updates, which are sent to members when significant scientific advances occur.
Planning for the future?
Myotubular myopathy, although thought to be non-progressive, may change with time, especially as the child grows. This means that the needs of individuals with the condition may change over time.
There are a number of things which should be considered:
• Wheelchairs
• Home adaptations
• Education
• Ventilation
• Holidays
More information on any of these topics can be obtained by contacting the Information and Support Line.
Other things to consider
• Anaesthetics - It has now been recognised that the use of general anaesthetics in people with neuromuscular disorders, can cause a variety of different problems. Although anaesthetics are generally well tolerated by people with myotubular myopathy, due to the nature of the anaesthetic drugs used, problems can include dysfunction of the heart, and relaxation of the muscles round the lungs causing problems with breathing. Generally if a patient is properly assessed and monitored, the risks associated with anaesthetic use are low, but it is very important that the medical professionals involved are fully aware of the muscle condition.
• Medical alert card - It is very important that health professionals are aware of your condition should you require treatment. There are often issues they will have to consider. Many companies are able to provide a Medic Alert Card, which can be carried to advise of any medical condition. These come in the form of bracelets, pendants etc and carry essential information.
that provide alert cards.
Myotonic dystrophy
What is myotonic dystrophy?
People with myotonic dystrophy, like those with other dystrophies, experience muscle weakness and wasting which is usually progressive. There are many differences, though, in the type of problem that people with myotonic dystrophy may have. These may include the following: Types of muscles involved are usually in the face, jaw and neck area; the large, weight-bearing muscles of the legs and thighs are much less affected.
Rate of deterioration is commonly slow, with little change over a long period; some people never have significant muscle disability. Muscle stiffness or 'myotonia' is characteristic, especially affecting the hands. Involvement of other body systems is frequent; associated problems may include cataracts, disturbance of heart rhythm, hormonal problems and, in children, learning difficulties. Age at onset is very variable. Symptoms may appear at any time from birth to old age.
How is myotonic dystrophy inherited?
This condition follows a 'dominant' inheritance pattern, which means that on average half of the children of an affected person are themselves affected. Both men and women are equally likely to be affected and to pass on the disorder, but affected women are more likely to have a severely affected child. In general (though not always) the disorder tends to be more severe in successive generations.
Most healthy adult relatives will not be likely to develop or pass on the disorder, but a careful assessment by an expert is important as mild features can easily be missed. Genetic testing on a blood sample for such relatives can now provide greater certainty, but should always be done with full information as part of genetic counselling. Genetic testing of healthy young children is not recommended.
Very few cases of myotonic dystrophy occur 'out of the blue'. Almost always, one parent proves to be affected, often very mildly. Some parents (or grandparents) prove to carry a very slight genetic change that will never give them symptoms. Careful study of the whole family often shows more members to be affected than would appear likely at first.
What is the cause?
The changes in muscle and other body systems in myotonic dystrophy are now known to result from a specific genetic change (mutation) which in most cases involves a gene on chromosome number 19. The same change occurs in patients world-wide, but it is variable in extent, even in a single family, because it is unstable. The length of a particular ‘triple repeat sequence’ (CTG) is expanded in patients and this may vary from a slight expansion in mildly affected individuals to a very large one in severely affected children. Until recently it has not been clear how genetic change causes the condition: the most likely mechanism is now thought to be that the expanded repeat is converted normally into the next stage (RNA), but then is unable to leave the cell nucleus. As a result of this trapping, a range of other types of RNA are affected, as are the protein they produce, which helps explain how a single genetic change can affect different body processes.
‘PROMM’ (proximal myotonic myopathy) and type 2 myotonic dystrophy. An important recent advance is the recognition of a second disorder with features resembling myotonic dystrophy.The muscle weakness tends to differ in distribution (more in proximal limb muscles, less in the face) and myotonia is often mild or absent. Cataract and heart involvement occurs as in myotonic dystrophy. It is now clear, that this condition (PROMM: proximal myotonic myopathy), is the same as some rare families thought, clinically, to have myotonic dystrophy but
not showing the expected mutation and termed ‘type2 myotonic dystrophy’ or ‘DM2’. The gene involved has now been isolated on chromosome 3. Although quite different to that for myotonic dystrophy it contains a very similar, expand repeat (CCTG), which is likely to explain the clinical similarity of the two disorders. We are still learning about the details of this condition, but it is probably uncommon and accounts only for a small proportion of patients thought clinically to have myotonic dystrophy.
Future advances
The research advances of the past 10 years have increased our understanding to the point where we can begin to see future possibilities for preventing or limiting the damage to muscle and other systems that occurs in myotonic dystrophy. In particular the genetic changes can now be re-produced in mouse models, which could allow the study of the effects of drugs and other agents that might be too untried to use safely on humans initially. It is difficult to predict howrapidly this work will progress, but possibilities exist now that were not present until very recently.
Problems and management
Although no 'cure' for myotonic dystrophy exists at present, there is a lot that can be done to help those affected. Indeed, since many doctors are unfamiliar with the condition, it is essential that people who have myotonic dystrophy are themselves aware of the problems and dangers they may face. Some of these are mentioned here; of course they rarely all occur in one person, and many people have few symptoms, but it is important to be aware of them. Operations and anaesthetics can be risky, even for mildly affected people. It is most important that any surgeon or anaesthetist should know a person has myotonic dystrophy before surgery is planned. Problems usually occur when doctors are unaware of the disorder; if care is taken, surgery is usually safe. A person may wish to wear a bracelet or locket stating their condition. A specific warning card is available that can be carried in a wallet. This can be obtained from the Myotonic Dystrophy Support Group (address below). 'Keep out of trouble' is a good motto for those with myotonic dystrophy. A minority of people can develop heart problems, which are commonly treatable but can be serious if ignored. A regular cardiogram (ECG) is wise.
Some people who have myotonic dystrophy may have more trouble with other body systems than they do with their muscles. A symptom that appears quite unrelated may be connected.
Excessive daytime sleepiness, swallowing difficulties and a range of bowel symptoms are examples. It is important that people with myotonic dystrophy should make sure that whoever treats them is aware that they have the condition and knows the wide range of associated problems.
If troublesome, muscle stiffness due to myotonia can be helped with certain drugs. Children with myotonic dystrophy may have learning problems at a time when there are no muscle complaints. Again, be sure that myotonic dystrophy is borne in mind if this disorder is in the family. Affected women need careful management if undertaking a pregnancy. Not only is there a risk of a baby being severely affected, but problems in pregnancy and delivery may affect the mother.
Equipment for mobility and adaptations in the house can be very useful, though few affected people need a wheelchair. Weak neck muscles make a sound head-rest essential when driving.
In summary
In summary, we now know a lot about myotonic dystrophy, but still have a long way to go. Helpful genetic counselling and family testing are now possible, but the best approach to treatment is to know about the condition, its risks and complications, and to be sure that your doctors do too.
The Myotonias
What is myotonia?
Myotonia refers to the condition in which muscles are slow to relax after contracting. It occurs in
a number of diseases such as myotonic dystrophy, myotonia congenita and paramyotonia congenita. However myotonic dystrophy is a very distinct condition in which myotonia is only a part. For this reason, and also because it is relatively common, there is a separate leaflet dealing specifically with this disorder. In the other two disorders myotonia is the main and often only symptom. They are the subjects of this leaflet.
Myotonia congenita
The principal complaint in myotonia congenita is failure of muscle to relax normally after contracting; this can be severe enough to interfere with normal everyday activities. Myotonia most often occurs after long periods of rest, for example on waking in the morning, or on standing up and starting to walk after prolonged sitting. Most often it affects the limb muscles making walking and climbing stairs difficult. The face may also be affected and opening the eyelids can sometimes be difficult. Stiffness may not only occur after prolonged rest, but can often be brought on by cold, fatigue or emotional stress. It is relieved by exercise and is generally not accompanied by pain. One problem, which can be serious, is after a sudden movement, for example turning quickly to avoid traffic while crossing the road; the muscles tend
to remain stiff and the individual may fall down as a result. Apart from myotonia, muscle enlargement, which may be pronounced, often occurs and affects the calves, thighs, shoulders and forearms.
How is myotonia congenita inherited?
There are two types of myotonia congenita, both of which are inherited. The commoner type (the so-called Becker type) is inherited as an autosomal recessive trait (Becker myotonia congenita). In this case there is a 1 in 4 chance that any brother or sister may be affected, but affected individuals themselves are very unlikely to have affected children. In this form of myotonia, symptoms are often first noticed in late childhood and may then progress until adulthood when there may also be some degree of muscle weakness. Muscle enlargement can be marked.
The less common form is inherited as an autosomal dominant trait (Thomsen myotonia congenita) when there is a 1 in 2 chance of an affected parent transmitting the disease to any child he or she may have. In this form of myotonia, symptoms first appear in early childhood, often in infancy, and parents may notice that when their baby cries the eyes remain closed for an unusually long time. However, myotonia is mild and does not become more severe with time.
Treatment is not usually necessary.
What is the cause?
The underlying genetic fault in both the autosomal dominant and recessive forms of myotonia congenita causes a structural change in the channel (or pore) in the muscle cell wall that lets in chloride ions. Chloride ions help muscle to relax after contraction and the damaged chloride ion channels in myotonia congenita let in too few chloride ions for efficient relaxation.
Can it be treated?
Many affected individuals learn to cope with their disability by working off the myotonia through repeated movements and avoiding the cold as much as possible. When severe, myotonia can be relieved by certain drugs (such as mexiletine) which can be prescribed by the doctor.
Paramyotonia Congenita
In this condition myotonia evident from early childhood, is generalised but particularly affects the face and hands, and characteristically is aggravated by, or only occurs on exposure to, cold. It
is not progressive and usually does not require treatment. Often muscle stiffness may actually be made worse by exercise, especially in cold weather. For this reason myotonia in paramyotonia congenita is referred to as "paradoxical" because repetitive activity often makes it worse rather than better. The condition is inherited as an autosomal dominant trait.
Here the defect is in so-called sodium ion channels in the muscle membrane. A few patients may experience periodic paralysisa sudden ‘floppy’ weakness of one or more limbs that can last minutes or hours. Episodes can be brought on by certain foods or drinks rich in potassium (e.g. bananas, orange juice), resting after exercise, missing meals or an infection.
Other forms of Myotonia
Other rarer forms of myotonia have also been described, including one type in which prolonged attacks of weakness may occur. Because the myotonias are an uncommon group of disorders with differing severities and modes of inheritance, it is important to seek advice from a neurologist or medical geneticist with particular knowledge of these conditions.
Myotonia refers to the condition in which muscles are slow to relax after contracting. It occurs in
a number of diseases such as myotonic dystrophy, myotonia congenita and paramyotonia congenita. However myotonic dystrophy is a very distinct condition in which myotonia is only a part. For this reason, and also because it is relatively common, there is a separate leaflet dealing specifically with this disorder. In the other two disorders myotonia is the main and often only symptom. They are the subjects of this leaflet.
Myotonia congenita
The principal complaint in myotonia congenita is failure of muscle to relax normally after contracting; this can be severe enough to interfere with normal everyday activities. Myotonia most often occurs after long periods of rest, for example on waking in the morning, or on standing up and starting to walk after prolonged sitting. Most often it affects the limb muscles making walking and climbing stairs difficult. The face may also be affected and opening the eyelids can sometimes be difficult. Stiffness may not only occur after prolonged rest, but can often be brought on by cold, fatigue or emotional stress. It is relieved by exercise and is generally not accompanied by pain. One problem, which can be serious, is after a sudden movement, for example turning quickly to avoid traffic while crossing the road; the muscles tend
to remain stiff and the individual may fall down as a result. Apart from myotonia, muscle enlargement, which may be pronounced, often occurs and affects the calves, thighs, shoulders and forearms.
How is myotonia congenita inherited?
There are two types of myotonia congenita, both of which are inherited. The commoner type (the so-called Becker type) is inherited as an autosomal recessive trait (Becker myotonia congenita). In this case there is a 1 in 4 chance that any brother or sister may be affected, but affected individuals themselves are very unlikely to have affected children. In this form of myotonia, symptoms are often first noticed in late childhood and may then progress until adulthood when there may also be some degree of muscle weakness. Muscle enlargement can be marked.
The less common form is inherited as an autosomal dominant trait (Thomsen myotonia congenita) when there is a 1 in 2 chance of an affected parent transmitting the disease to any child he or she may have. In this form of myotonia, symptoms first appear in early childhood, often in infancy, and parents may notice that when their baby cries the eyes remain closed for an unusually long time. However, myotonia is mild and does not become more severe with time.
Treatment is not usually necessary.
What is the cause?
The underlying genetic fault in both the autosomal dominant and recessive forms of myotonia congenita causes a structural change in the channel (or pore) in the muscle cell wall that lets in chloride ions. Chloride ions help muscle to relax after contraction and the damaged chloride ion channels in myotonia congenita let in too few chloride ions for efficient relaxation.
Can it be treated?
Many affected individuals learn to cope with their disability by working off the myotonia through repeated movements and avoiding the cold as much as possible. When severe, myotonia can be relieved by certain drugs (such as mexiletine) which can be prescribed by the doctor.
Paramyotonia Congenita
In this condition myotonia evident from early childhood, is generalised but particularly affects the face and hands, and characteristically is aggravated by, or only occurs on exposure to, cold. It
is not progressive and usually does not require treatment. Often muscle stiffness may actually be made worse by exercise, especially in cold weather. For this reason myotonia in paramyotonia congenita is referred to as "paradoxical" because repetitive activity often makes it worse rather than better. The condition is inherited as an autosomal dominant trait.
Here the defect is in so-called sodium ion channels in the muscle membrane. A few patients may experience periodic paralysisa sudden ‘floppy’ weakness of one or more limbs that can last minutes or hours. Episodes can be brought on by certain foods or drinks rich in potassium (e.g. bananas, orange juice), resting after exercise, missing meals or an infection.
Other forms of Myotonia
Other rarer forms of myotonia have also been described, including one type in which prolonged attacks of weakness may occur. Because the myotonias are an uncommon group of disorders with differing severities and modes of inheritance, it is important to seek advice from a neurologist or medical geneticist with particular knowledge of these conditions.
Abonați-vă la:
Postări (Atom)