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.
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