This factsheet is for people for whom a diagnosis of limb-girdle muscular dystrophy (LGMD) has been suggested. This is a complicated subject since there are many different types of limbgirdle muscular dystrophy. Not all of the things that we talk about in this fact sheet will be relevant to everybody with the diagnosis.
What is limb-girdle muscular dystrophy?
Muscular Dystrophy is the name given to a group of inherited conditions where there is a progressive wasting and weakening of muscle. There are many different types of muscular dystrophy. One of the ways in which the different types of muscular dystrophy are distinguished
is by noting the groups of muscle that are involved first. The limb-girdle group of muscular dystrophies is so called because generally they cause weakness in the shoulder and pelvic girdle for example the big muscles around the top (proximal) part of arms and legs (hip, thigh and shoulder muscles). Usually weakness of the legs is noticed before that of the arms and usually the muscle of the face are unaffected.
Specialised tests for LGMD are now available through a national scheme for specialised diagnosis, the National Commissioning Group (NCG). Further information can be found at the end of this factsheet.
What are the common features?
LGMD are rare conditions and they present differently in many people, even within the same family, with regard to age of onset, areas of muscle weakness, heart and respiratory involvement, rate of progression and severity.
The different types of LGMD may have different features associated with them and some of these are described in the table below. However, the common features to all people in this group will be weakness of the big muscles of the legs and/or arms. This may result in frequent falls, difficulty in running, climbing stairs and rising from the floor. As the condition progresses, people can have problems with walking and may need to use a wheelchair over time. The involvement of shoulder and arm muscles can lead to difficulty in raising arms over head and in lifting objects. In some types of LGMD, the heart and breathing muscles may be involved.
Consequently regular checks of heart and breathing function may be needed in order to identify any changes and treat them as necessary.
What causes it?
There are many different genetic faults associated with LGMD and these are listed in the table below. These genes contain the necessary information to make muscles function. When a person has faults in a LGMD gene, the muscles can not work properly and weakness occurs. Quite often complex tests may be needed to work out the causes of LGMD in an individual person, which may include examination of a muscle biopsy and a blood sample for DNA testing.
What are the different types of limb-girdle muscular dystrophy?
The different types of LGMD have all gone through various name changes and reclassifications over the last few years. They are listed in the table below. All forms of LGMD have a genetic basis.
The LGMDs are divided into two main groups depending on the way they are passed on in families. On this basis, they are grouped into autosomal recessive or type 2 LGMD and the much rarer group of autosomal dominant or type 1 LGMD. They can now be further subdivided on the basis of the faulty gene or the muscle protein deficiency which may tell us exactly where the problem lies.
Names Inheritance
Protein involved
Clinical features
CK level
Genetic test available
LGMD2A
Calpainopathy
Calpain3
deficiency
AR Calpain3 - A common form of LGMD worldwide
- Onset of muscle symptoms: 8-15 yrs though may be earlier or later
- Weakness and wasting in the hip, thigh and shoulder muscles
- Not usually very rapidly progressive
- Joint contractures may be present
- Heart and breathing involvement is not a common feature of the condition.
Elevated Yes
LGMD2B
Dysferlinopathy
Dysferlin
deficiency
Miyoshi
myopathy
AR Dysferlin - Onset of muscle symptoms: 20 yrs though may be earlier or later - Same people with a typical hip and shoulder muscle weakness (LGMD2B); other people with difficulty standing on toes and hand weakness (Miyoshi myopathy or distal myopathy)
- Usually slow progression
- Muscle pain and swelling in calves can be present
- Heart and breathing involvement is not a common feature of the condition.
Markedly
elevated
Yes
LGMD2C, 2D,
2E, 2F
Sarcoglycanopathies
Sarcoglycans
deficiency
AR One of the
sarcoglycan
proteins
( )
- Onset of muscle symptoms: usually in childhood
- Weakness and wasting in the hip, thigh and shoulder muscles
- Rate of progression of the condition is extremely variable
- Joint contractures may be present
- Heart and breathing muscles may be involved
Elevated Yes
LGMD2G AR Telethonin So far only reported in Brazil Elevated No
LGMD2H AR TRIM32 So far only reported in Canada Elevated No
Names Inheritance Protein
involved
Clinical features CK level Genetic
test
available
LGMD2I AR FKRP
(Fukutin
related
protein)
- A common form of LGMD in the UK
and in the North of Europe
- Onset of muscle symptoms: 10-20
yrs though may be earlier or later
(with a range from 2 to 40 yrs)
- Rate of progression of the condition
is extremely variable
- Joint contractures may be present
- Heart and breathing muscles may be
involved
Elevated Yes
LGMD2J AR Titin So far only reported in Finland
- People with one copy of the faulty
gene have a distal muscle myopathy
Elevated No
LGMD2K AR POMT1 - Onset of muscle symptoms:
childhood
- Weakness and wasting in the hip,
thigh and shoulder muscles
- Severe learning difficulties
- The gene is also involved in a severe
congenital muscular dystrophy
- Few cases described
Elevated Yes
LGMD2L
AR Fukutin - Onset of muscle symptoms:
childhood
- Weakness and wasting in the hip,
thigh and shoulder muscles
- The gene is also involved in a severe
congenital muscular dystrophy
- Few cases described
- Deterioration of weakness with viral
infections
- Heart and breathing muscles may be
involved
Elevated Yes
LGMD2M AR Not known - Onset of muscle symptoms: 10-50
years
- Weakness in the hip, thigh and
shoulder muscles
- Asymmetric wasting of leg muscle
(quadriceps femoralis)
Elevated Yes
LGMD2N AR POMT2 - Recently described
- Faults in this gene are responsible
for a wide spectrum of symptoms,
ranging from severe muscle
weakness and wasting, learning
difficulties and eye problems at birth
to a milder form of LGMD
Elevated Yes
LGMD1A AD Myotilin So far described only in two families
- Faults in this gene also cause
another autosomal dominant
muscular disease, called Myofibrillar
myopathy,
- Onset of muscle symptoms:
adulthood
- Some affected individuals can have a
particular nasal pattern of speech
(dysartria)
- Heart and breathing muscles may be
involved
Normal or
mildly
elevated
Yes
Names Inheritance Protein
involved
Clinical features CK level Genetic
test
available
LGMD1B AD Lamin A/C - Faults in this gene also cause AD
Emery-Dreifuss muscular dystrophy,
peripheral neuropathy and an
unusual condition called
lipodystrophy.
- Onset of muscle symptoms: 5-20
years
- Usually slow progression
- Heart involvement is frequent and
can be the only manifestation of the
muscular condition
- Breathing problems are not common
Normal or
mildly
elevated
Yes
LGMD1C AD Caveolin3 - Onset of muscle symptoms: from
childhood to adult life
- People can present weakness and
wasting in the hip, thigh and shoulder
muscles (LGMD), a distal muscle
weakness and “rippling muscle
disease”
- Cramps and muscle pain after
exercise are common
- Usually slow progression
- Heart and breathing involvement is
not a common feature of the disease
Mildly
elevated
Yes
LGMD1D, 1E, 1F AD Not known - Very rarely reported so far Normal or
mildly
elevated
No
How is limb-girdle muscular dystrophy diagnosed?
The first clue towards the diagnosis of LGMD is usually obtained when your doctor takes your
medical history and examines you. The patient’s family history can help to identify the pattern of
inheritance and to distinguish between autosomal dominant and autosomal recessive forms.
A physical examination, particularly a neurological evaluation including a muscle strength
assessment, can help the doctor determine the pattern of the muscle involvement. Occasionally
this may suggest a particular form of muscular dystrophy but usually a number of different tests
will be needed to make the diagnosis. These may include a selection of blood tests, electrical
tests, radiological investigations and very importantly a muscle biopsy.
Blood tests can show raised creatine kinase (CK) levels which suggest there may be a problem
in the muscles. CK is a muscle enzyme, which is released into the bloodstream at high levels
when there is muscle fibre damage. In addition to elevated CK serum levels, some people often
have elevated transaminates levels. These enzymes are also referred to as liver enzymes and
people with muscular dystrophy can therefore, sometimes, be wrongly diagnosed as having liver
disease.
Electromyography (or EMG) is a test that measures the muscle’s response to stimulation of its
nerve supply and the electrical activity in the muscle. Electromyography and radiological
investigations (MRI scan) can help to identify the pattern of the muscle involvement which may
suggest a particular form of muscular dystrophy.
Each of the tests on their own can indicate that LGMD may be a likely diagnosis. It is, however,
usually by studying a muscle biopsy that we can be most clear about what type of LGMD
someone might have. This is because we are now able to look directly at the proteins which
may be reduced or absent in different types of LGMD. In most situations the muscle biopsy
gives the best chance of reaching a precise diagnosis. However, even today the muscle biopsy
alone is sometimes not enough to distinguish between the exact types of LGMD and therefore
genetic tests may be needed to confirm or identify a precise diagnosis.
In approximately 25% of all LGMD patients, a precise diagnosis can not be found in spite of all
testing which is available.
What does the muscle biopsy show?
A muscle biopsy is a surgical procedure in which a small sample of muscle is removed from
your leg or your arm and examined under a microscope. Healthy muscle has a characteristic
appearance, and is made up of closely packed fibres which are more or less evenly sized. The
muscle biopsy of a person affected by LGMD shows a loss and change of size to some of these
muscle fibres and some are even substituted with fat.
In other tests (immunochemistry (A), immunoblotting (B)), we are able to look directly at the
muscle proteins which may be reduced or absent in different types of LGMD. This can lead to
confirmation of a precise diagnosis.
A)
Dystrophic LGMD2B LGMD1C
Dysferlin Caveolin
Normal Normal Normal
B)
How has our understanding of the limb-girdle muscular dystrophies improved?
Our understanding of the LGMDs has improved dramatically over the last few years. When the
term “limb-girdle” muscular dystrophy was first coined by Dr Walton and Dr Nattrass in 1954
there was no clear understanding of what the condition really involved. It was something of a
“catch all” term used fairly widely to distinguish people with predominant limb-girdle weakness
from other types of muscular dystrophy, such as Becker, Duchenne, facioscapulohumeral and
congenital. Because this was not a very specific use of the term, a lot of people who were
thought initially to have had LGMD in fact turned out to have other conditions. On the other
hand, the diagnosis of LGMD has been delayed in other people. This was partly because there
are many other conditions that can cause weakness of the big muscle of the arms and legs.
Research over the last few years has changed things very dramatically. We can now
understand the real cause for a number of different types of limb-girdle muscular dystrophy and
can even distinguish different types. By studying the muscle biopsy, we can identify many of the
proteins which are absent in muscle and are the causes of the different types of LGMD. We also
know the genes responsible for these conditions which are now available by genetic tests. This
leads us to have greater understanding about the progression of the condition, the prominent
muscle involvement and the complications more frequently associated with the different types.
What other tests are available?
Once the exact subtype of LGMD has been defined, it may be possible to offer other testing
such as prenatal diagnosis or carrier testing for other family members. This is so variable from
condition to condition and family to family that you will need to explore this with your consultant
or ask for referral to a geneticist to discuss in more details.
What are the genetic implications?
Approximately 90% of LGMD is inherited as an autosomal recessive disorder. For someone to
have one of these conditions they have to have two faulty copies of the gene responsible. All of
our genes come in pairs, one from our mother and one from our father. If someone has an
autosomal recessive type of LGMD both of their parents must be carriers (see diagram). These
parents will, together, have a 1 in 4 chance of having another baby with LGMD.
People with autosomal recessive types of LGMD rarely have affected children (for the risk of
meeting and having a child by a carrier of the same faulty gene will be rare); all of their children
will have inherited one copy of the faulty gene but are unaffected.
The remaining subtypes of LGMD show what is known as autosomal dominant in inheritance.
This means that the condition can be passed on from parent to child (of either sex). However, it
is important to note that we are increasingly recognising that autosomal dominant conditions
can arise as a result of a so-called new fault in the gene (a “new mutation”) meaning that
someone can have an autosomal dominant condition without either parent being affected. For
the affected person, there is a 50-50 chance that their children could also be affected.
How will it progress?
All types of LGMD tend to get worse with time, but this is highly variable from condition to
condition and from person to person. It is best to discuss this with your consultant to be sure the
information is relevant to your specific case.
Is there a treatment?
There are at this stage no specific treatments or cure for the muscle weakness that arises in
LGMD, though clinical trials of experimental treatments are being planned. At present these are
not available for patients. Your consultant and the Muscular Dystrophy Campaign can give you
up to date and scientific information about clinical trials and potential suitable treatments for
patients. However, that is not to say that this means that there is nothing that can be done for
people with LGMD.
One very important reason for knowing exactly which type of LGMD someone has is to make
sure that people are getting the right follow up and management.
Maintaining good mobility is important for all patients affected by muscular dystrophy. There are
not any guidelines about the type or intensity of activities however it is recommended that any
exercise undertaken is done within a person’s limitation and remains comfortable. Extreme
tiredness, muscle pain and cramps during or after activities can mean that a person has pushed
himself too hard and therefore should be avoided. Swimming is a good activity because it
promotes movement of all muscles without increased strain.
Access to physiotherapy may be very important to keep people mobile and to keep joints
supple.
Watching out for breathing problems may lead to treatments that can be life saving and the
same is true for proper follow up of the heart. Prematurely identification of any breathing and
heart problems is important in order to promptly start proper treatments. It is very important that
all patients have access to this kind of regular follow up.
What financial help is available to people with neuromuscular conditions?
Depending on the degree of disability, some people may be entitled to social services benefits,
which may include Disability Living Allowance (DLA), Independent Living Fund (ILF), Direct
Payments and Home Adaptation Grants. These benefits can be accessed by contacting your
local social services department (asking for an assessment of need), Citizens Advice Bureau
(CAB), GP, primary health care team and/or Job Centre.
What is the National Commissioning Group (NCG)?
NCG is commissioned by the NHS and offers a diagnostic and advisory service to all patients in
the UK with Limb Girdle Muscular Dystrophy (LGMD). This service is based at the Institute of
Human Genetics in Newcastle upon Tyne. If patients wish to have this specialist assessment,
they need to be referred via their GP or consultant. The service is available at no cost to the
referring doctor.
Other relevant factsheets from the Muscular Dystrophy Campaign
LGMB1B
LGMB1C
LGMB2A
LGMB2B
Whilst every reasonable effort is made to ensure that the information in this document is complete, correct and upto- date, this cannot be guaranteed and the Muscular Dystrophy Campaign shall not be liable whatsoever for any damages incurred as a result of its use. The Muscular Dystrophy Campaign does not necessarily endorse the services provided by the organisations listed in our factsheets.
What is limb-girdle muscular dystrophy?
Muscular Dystrophy is the name given to a group of inherited conditions where there is a progressive wasting and weakening of muscle. There are many different types of muscular dystrophy. One of the ways in which the different types of muscular dystrophy are distinguished
is by noting the groups of muscle that are involved first. The limb-girdle group of muscular dystrophies is so called because generally they cause weakness in the shoulder and pelvic girdle for example the big muscles around the top (proximal) part of arms and legs (hip, thigh and shoulder muscles). Usually weakness of the legs is noticed before that of the arms and usually the muscle of the face are unaffected.
Specialised tests for LGMD are now available through a national scheme for specialised diagnosis, the National Commissioning Group (NCG). Further information can be found at the end of this factsheet.
What are the common features?
LGMD are rare conditions and they present differently in many people, even within the same family, with regard to age of onset, areas of muscle weakness, heart and respiratory involvement, rate of progression and severity.
The different types of LGMD may have different features associated with them and some of these are described in the table below. However, the common features to all people in this group will be weakness of the big muscles of the legs and/or arms. This may result in frequent falls, difficulty in running, climbing stairs and rising from the floor. As the condition progresses, people can have problems with walking and may need to use a wheelchair over time. The involvement of shoulder and arm muscles can lead to difficulty in raising arms over head and in lifting objects. In some types of LGMD, the heart and breathing muscles may be involved.
Consequently regular checks of heart and breathing function may be needed in order to identify any changes and treat them as necessary.
What causes it?
There are many different genetic faults associated with LGMD and these are listed in the table below. These genes contain the necessary information to make muscles function. When a person has faults in a LGMD gene, the muscles can not work properly and weakness occurs. Quite often complex tests may be needed to work out the causes of LGMD in an individual person, which may include examination of a muscle biopsy and a blood sample for DNA testing.
What are the different types of limb-girdle muscular dystrophy?
The different types of LGMD have all gone through various name changes and reclassifications over the last few years. They are listed in the table below. All forms of LGMD have a genetic basis.
The LGMDs are divided into two main groups depending on the way they are passed on in families. On this basis, they are grouped into autosomal recessive or type 2 LGMD and the much rarer group of autosomal dominant or type 1 LGMD. They can now be further subdivided on the basis of the faulty gene or the muscle protein deficiency which may tell us exactly where the problem lies.
Names Inheritance
Protein involved
Clinical features
CK level
Genetic test available
LGMD2A
Calpainopathy
Calpain3
deficiency
AR Calpain3 - A common form of LGMD worldwide
- Onset of muscle symptoms: 8-15 yrs though may be earlier or later
- Weakness and wasting in the hip, thigh and shoulder muscles
- Not usually very rapidly progressive
- Joint contractures may be present
- Heart and breathing involvement is not a common feature of the condition.
Elevated Yes
LGMD2B
Dysferlinopathy
Dysferlin
deficiency
Miyoshi
myopathy
AR Dysferlin - Onset of muscle symptoms: 20 yrs though may be earlier or later - Same people with a typical hip and shoulder muscle weakness (LGMD2B); other people with difficulty standing on toes and hand weakness (Miyoshi myopathy or distal myopathy)
- Usually slow progression
- Muscle pain and swelling in calves can be present
- Heart and breathing involvement is not a common feature of the condition.
Markedly
elevated
Yes
LGMD2C, 2D,
2E, 2F
Sarcoglycanopathies
Sarcoglycans
deficiency
AR One of the
sarcoglycan
proteins
( )
- Onset of muscle symptoms: usually in childhood
- Weakness and wasting in the hip, thigh and shoulder muscles
- Rate of progression of the condition is extremely variable
- Joint contractures may be present
- Heart and breathing muscles may be involved
Elevated Yes
LGMD2G AR Telethonin So far only reported in Brazil Elevated No
LGMD2H AR TRIM32 So far only reported in Canada Elevated No
Names Inheritance Protein
involved
Clinical features CK level Genetic
test
available
LGMD2I AR FKRP
(Fukutin
related
protein)
- A common form of LGMD in the UK
and in the North of Europe
- Onset of muscle symptoms: 10-20
yrs though may be earlier or later
(with a range from 2 to 40 yrs)
- Rate of progression of the condition
is extremely variable
- Joint contractures may be present
- Heart and breathing muscles may be
involved
Elevated Yes
LGMD2J AR Titin So far only reported in Finland
- People with one copy of the faulty
gene have a distal muscle myopathy
Elevated No
LGMD2K AR POMT1 - Onset of muscle symptoms:
childhood
- Weakness and wasting in the hip,
thigh and shoulder muscles
- Severe learning difficulties
- The gene is also involved in a severe
congenital muscular dystrophy
- Few cases described
Elevated Yes
LGMD2L
AR Fukutin - Onset of muscle symptoms:
childhood
- Weakness and wasting in the hip,
thigh and shoulder muscles
- The gene is also involved in a severe
congenital muscular dystrophy
- Few cases described
- Deterioration of weakness with viral
infections
- Heart and breathing muscles may be
involved
Elevated Yes
LGMD2M AR Not known - Onset of muscle symptoms: 10-50
years
- Weakness in the hip, thigh and
shoulder muscles
- Asymmetric wasting of leg muscle
(quadriceps femoralis)
Elevated Yes
LGMD2N AR POMT2 - Recently described
- Faults in this gene are responsible
for a wide spectrum of symptoms,
ranging from severe muscle
weakness and wasting, learning
difficulties and eye problems at birth
to a milder form of LGMD
Elevated Yes
LGMD1A AD Myotilin So far described only in two families
- Faults in this gene also cause
another autosomal dominant
muscular disease, called Myofibrillar
myopathy,
- Onset of muscle symptoms:
adulthood
- Some affected individuals can have a
particular nasal pattern of speech
(dysartria)
- Heart and breathing muscles may be
involved
Normal or
mildly
elevated
Yes
Names Inheritance Protein
involved
Clinical features CK level Genetic
test
available
LGMD1B AD Lamin A/C - Faults in this gene also cause AD
Emery-Dreifuss muscular dystrophy,
peripheral neuropathy and an
unusual condition called
lipodystrophy.
- Onset of muscle symptoms: 5-20
years
- Usually slow progression
- Heart involvement is frequent and
can be the only manifestation of the
muscular condition
- Breathing problems are not common
Normal or
mildly
elevated
Yes
LGMD1C AD Caveolin3 - Onset of muscle symptoms: from
childhood to adult life
- People can present weakness and
wasting in the hip, thigh and shoulder
muscles (LGMD), a distal muscle
weakness and “rippling muscle
disease”
- Cramps and muscle pain after
exercise are common
- Usually slow progression
- Heart and breathing involvement is
not a common feature of the disease
Mildly
elevated
Yes
LGMD1D, 1E, 1F AD Not known - Very rarely reported so far Normal or
mildly
elevated
No
How is limb-girdle muscular dystrophy diagnosed?
The first clue towards the diagnosis of LGMD is usually obtained when your doctor takes your
medical history and examines you. The patient’s family history can help to identify the pattern of
inheritance and to distinguish between autosomal dominant and autosomal recessive forms.
A physical examination, particularly a neurological evaluation including a muscle strength
assessment, can help the doctor determine the pattern of the muscle involvement. Occasionally
this may suggest a particular form of muscular dystrophy but usually a number of different tests
will be needed to make the diagnosis. These may include a selection of blood tests, electrical
tests, radiological investigations and very importantly a muscle biopsy.
Blood tests can show raised creatine kinase (CK) levels which suggest there may be a problem
in the muscles. CK is a muscle enzyme, which is released into the bloodstream at high levels
when there is muscle fibre damage. In addition to elevated CK serum levels, some people often
have elevated transaminates levels. These enzymes are also referred to as liver enzymes and
people with muscular dystrophy can therefore, sometimes, be wrongly diagnosed as having liver
disease.
Electromyography (or EMG) is a test that measures the muscle’s response to stimulation of its
nerve supply and the electrical activity in the muscle. Electromyography and radiological
investigations (MRI scan) can help to identify the pattern of the muscle involvement which may
suggest a particular form of muscular dystrophy.
Each of the tests on their own can indicate that LGMD may be a likely diagnosis. It is, however,
usually by studying a muscle biopsy that we can be most clear about what type of LGMD
someone might have. This is because we are now able to look directly at the proteins which
may be reduced or absent in different types of LGMD. In most situations the muscle biopsy
gives the best chance of reaching a precise diagnosis. However, even today the muscle biopsy
alone is sometimes not enough to distinguish between the exact types of LGMD and therefore
genetic tests may be needed to confirm or identify a precise diagnosis.
In approximately 25% of all LGMD patients, a precise diagnosis can not be found in spite of all
testing which is available.
What does the muscle biopsy show?
A muscle biopsy is a surgical procedure in which a small sample of muscle is removed from
your leg or your arm and examined under a microscope. Healthy muscle has a characteristic
appearance, and is made up of closely packed fibres which are more or less evenly sized. The
muscle biopsy of a person affected by LGMD shows a loss and change of size to some of these
muscle fibres and some are even substituted with fat.
In other tests (immunochemistry (A), immunoblotting (B)), we are able to look directly at the
muscle proteins which may be reduced or absent in different types of LGMD. This can lead to
confirmation of a precise diagnosis.
A)
Dystrophic LGMD2B LGMD1C
Dysferlin Caveolin
Normal Normal Normal
B)
How has our understanding of the limb-girdle muscular dystrophies improved?
Our understanding of the LGMDs has improved dramatically over the last few years. When the
term “limb-girdle” muscular dystrophy was first coined by Dr Walton and Dr Nattrass in 1954
there was no clear understanding of what the condition really involved. It was something of a
“catch all” term used fairly widely to distinguish people with predominant limb-girdle weakness
from other types of muscular dystrophy, such as Becker, Duchenne, facioscapulohumeral and
congenital. Because this was not a very specific use of the term, a lot of people who were
thought initially to have had LGMD in fact turned out to have other conditions. On the other
hand, the diagnosis of LGMD has been delayed in other people. This was partly because there
are many other conditions that can cause weakness of the big muscle of the arms and legs.
Research over the last few years has changed things very dramatically. We can now
understand the real cause for a number of different types of limb-girdle muscular dystrophy and
can even distinguish different types. By studying the muscle biopsy, we can identify many of the
proteins which are absent in muscle and are the causes of the different types of LGMD. We also
know the genes responsible for these conditions which are now available by genetic tests. This
leads us to have greater understanding about the progression of the condition, the prominent
muscle involvement and the complications more frequently associated with the different types.
What other tests are available?
Once the exact subtype of LGMD has been defined, it may be possible to offer other testing
such as prenatal diagnosis or carrier testing for other family members. This is so variable from
condition to condition and family to family that you will need to explore this with your consultant
or ask for referral to a geneticist to discuss in more details.
What are the genetic implications?
Approximately 90% of LGMD is inherited as an autosomal recessive disorder. For someone to
have one of these conditions they have to have two faulty copies of the gene responsible. All of
our genes come in pairs, one from our mother and one from our father. If someone has an
autosomal recessive type of LGMD both of their parents must be carriers (see diagram). These
parents will, together, have a 1 in 4 chance of having another baby with LGMD.
People with autosomal recessive types of LGMD rarely have affected children (for the risk of
meeting and having a child by a carrier of the same faulty gene will be rare); all of their children
will have inherited one copy of the faulty gene but are unaffected.
The remaining subtypes of LGMD show what is known as autosomal dominant in inheritance.
This means that the condition can be passed on from parent to child (of either sex). However, it
is important to note that we are increasingly recognising that autosomal dominant conditions
can arise as a result of a so-called new fault in the gene (a “new mutation”) meaning that
someone can have an autosomal dominant condition without either parent being affected. For
the affected person, there is a 50-50 chance that their children could also be affected.
How will it progress?
All types of LGMD tend to get worse with time, but this is highly variable from condition to
condition and from person to person. It is best to discuss this with your consultant to be sure the
information is relevant to your specific case.
Is there a treatment?
There are at this stage no specific treatments or cure for the muscle weakness that arises in
LGMD, though clinical trials of experimental treatments are being planned. At present these are
not available for patients. Your consultant and the Muscular Dystrophy Campaign can give you
up to date and scientific information about clinical trials and potential suitable treatments for
patients. However, that is not to say that this means that there is nothing that can be done for
people with LGMD.
One very important reason for knowing exactly which type of LGMD someone has is to make
sure that people are getting the right follow up and management.
Maintaining good mobility is important for all patients affected by muscular dystrophy. There are
not any guidelines about the type or intensity of activities however it is recommended that any
exercise undertaken is done within a person’s limitation and remains comfortable. Extreme
tiredness, muscle pain and cramps during or after activities can mean that a person has pushed
himself too hard and therefore should be avoided. Swimming is a good activity because it
promotes movement of all muscles without increased strain.
Access to physiotherapy may be very important to keep people mobile and to keep joints
supple.
Watching out for breathing problems may lead to treatments that can be life saving and the
same is true for proper follow up of the heart. Prematurely identification of any breathing and
heart problems is important in order to promptly start proper treatments. It is very important that
all patients have access to this kind of regular follow up.
What financial help is available to people with neuromuscular conditions?
Depending on the degree of disability, some people may be entitled to social services benefits,
which may include Disability Living Allowance (DLA), Independent Living Fund (ILF), Direct
Payments and Home Adaptation Grants. These benefits can be accessed by contacting your
local social services department (asking for an assessment of need), Citizens Advice Bureau
(CAB), GP, primary health care team and/or Job Centre.
What is the National Commissioning Group (NCG)?
NCG is commissioned by the NHS and offers a diagnostic and advisory service to all patients in
the UK with Limb Girdle Muscular Dystrophy (LGMD). This service is based at the Institute of
Human Genetics in Newcastle upon Tyne. If patients wish to have this specialist assessment,
they need to be referred via their GP or consultant. The service is available at no cost to the
referring doctor.
Other relevant factsheets from the Muscular Dystrophy Campaign
LGMB1B
LGMB1C
LGMB2A
LGMB2B
Whilst every reasonable effort is made to ensure that the information in this document is complete, correct and upto- date, this cannot be guaranteed and the Muscular Dystrophy Campaign shall not be liable whatsoever for any damages incurred as a result of its use. The Muscular Dystrophy Campaign does not necessarily endorse the services provided by the organisations listed in our factsheets.
Niciun comentariu:
Trimiteți un comentariu