Limb-girdle muscular dystrophy

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Limb-girdle muscular dystrophy
ICD-10 G71.0
ICD-9 359.1
DiseasesDB 32189
eMedicine neuro/189 
MeSH D049288

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy. Limb-girdle muscular dystrophy encompasses a large number of rare disorders.

Presentation

The term "limb-girdle" is used to describe these disorders because the muscles most severely affected are generally those of the hips and shoulders -- the limb girdle muscles.

Common symptoms of limb-girdle muscular dystrophy are muscle weakness, myoglobinuria, pain, myotonia, cardiomyopathy, elevated serum CK, and rippling muscles.

The muscle weakness is generally symmetric, proximal, and slowly progressive.

Generally pain is not present with LGMD, and mental function is not affected.

LGMD can begin in childhood, adolescence, young adulthood or even later. The age of onset is usually between 10 and 30. Both genders are affected equally. When limb-girdle muscular dystrophy begins in childhood the progression appears to be faster and the disease more disabling. When the disorder begins in adolescence or adulthood the disease is generally not as severe and progresses more slowly.

AHA Scientific Statement: Management of Cardiac Involvement Associated With Neuromuscular Diseases

Cardiac Evaluation in Limb-girdle muscular dystrophies (LGMD)

Class I
"1. In patients with LGMD, complete cardiac evaluation should begin at the time of diagnosis and should include examination, ECG, and echocardiography. (Level of Evidence: C) "
"1. LGMD patients with heart failure (HF) or those on HF therapy should be followed up more frequently. (Level of Evidence: C) "
Class IIa
"1. Follow-up cardiac evaluations to include examination, ECG, and echocardiography every 2 years for asymptomatic LGMD2C-F (sarcoglycanopathy) and LGMD2I patients (FKRP) with normal cardiac findings, and at least annually for those with abnormal cardiac findings, is reasonable. (Level of Evidence: C) "
"1. Follow-up cardiac evaluations to include examination, ECG, and ambulatory electro- cardiographic monitoring should be repeated every 2 years for asymptomatic LGMD1B patients with normal cardiac findings and annually for those with abnormal cardiac findings. Symptoms of palpitations, dizziness, or syncope should prompt additional investigation with ambulatory electrocardiographic monitoring, loop event electrocardiographic recording, or electrophysiology study as warranted. (Level of Evidence: C) "

Prognosis

The distal muscles are affected late in LGMD, if at all. Over time (usually many years), the person with LGMD loses muscle bulk and strength. Eventually, s/he may need a power wheelchair or scooter, especially for long distances.

While LGMD isn't a fatal disease, it may eventually weaken the heart and lung muscles, leading to illness or death due to secondary disorders.

Genetics

LGMD is typically an inherited disorder, though it may be inherited as a dominant, recessive, or X-linked genetic defect. The result of the defect is that the muscles cannot properly form the proteins needed for normal muscle function. Several different proteins can be affected, and the specific protein that is absent or defective identifies the specific type of muscular dystrophy.

Treatment

Treatment for LGMD is primarily supportive. Exercise and physical therapy are advised to maintain as much muscle strength and joint flexibility as possible. Calipers may be used to maintain mobility and quality of life. Careful attention to lung and heart health is also required. IVIg may increase strength in some forms and prevent progression in others, possibly through the prevention of fibrosis and inflammation without the secondary weakening caused by corticosteroids.

List of limb-girdle muscular dystrophies

The "LGMD1" family is autosomal dominant, and the "LGMD2" family is autosomal recessive.

Name OMIM Location
LGMD1A 159000 TTID
LGMD1B 159001 LMNA
LGMD1C 607801 CAV3
LGMD1D 603511 7q
LGMD1E 602067 6q23
LGMD1F 608423 7q32.1-q32.2
LGMD1G 609115 4q21
LGMD2A 253600 CAPN3
LGMD2B 253601 DYSF
LGMD2C 253700 SGCG
LGMD2D 608099 SGCA
LGMD2E 604286 SGCB
LGMD2F 601287 SGCD
LGMD2G 601954 TCAP
LGMD2H 254110 TRIM32
LGMD2I 607155 FKRP
LGMD2J 608807 TTN
LGMD2K 609308 POMT1

External links

de:Gliedergürteldystrophie nl:Limb-girdle dystrofie no:Limb-girdle



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