Limb-Girdle muscular dystrophy
| Limb-girdle muscular dystrophy | |
|---|---|
| Classification and external resources | |
| Specialty | neurology |
| ICD-10 | G71.0 |
| ICD-9-CM | 359.1 |
| OMIM | 159000 159001 607801 603511 602067 608423 609115 253600 253601 253700 608099 604286 601287 601954 254110 607155 608807 609308 611307 611588 607439 606822 |
| DiseasesDB | 32189 |
| MedlinePlus | 000711 |
| eMedicine | neuro/189 |
| MeSH | D049288 |
| GeneReviews | |
Limb-girdle muscular dystrophy (LGMD) or Erb's muscular dystrophy is a genetically and clinically heterogeneous group of rare muscular dystrophies. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles.LGMD has an autosomal pattern of inheritance and currently has no known cure.
The symptoms of an individual with Limb-girdle muscular dystrophy (LGMD) generally has difficulty walking, going both up and down stairs and raising from a chair. Difficulty bending over and falling on a regular basis are also common. Difficulty lifting certain objects is also a common presentation of LGMD as well as difficulty holding your arms out or above your head. Eventually the ability to walk/run deteriorates.
Further presentations an individual with LGMD might have are:
The disease inevitably gets worse over time, although progression is more rapid in some patients than others. Eventually the disease can affect other muscles such as the ones located in the face. The disease commonly leads to dependence on a wheelchair within years of symptom onset, but there is high inter-patient variability, with some patients maintaining mobility.
The muscle weakness is generally symmetric, proximal, and slowly progressive. In most cases, 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.There is no sensory neuropathy or autonomic or visceral dysfunction at presentation.
In terms of the genetics of LGMD is an inherited disorder, though it may be inherited as a dominant or recessive genetic defect. The result of the defect is that the muscles cannot properly form certain 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. Among the proteins affected in LGMD are α, β, γ and δ sarcoglycans. The sarcoglycanopathies could be possibly amenable to gene therapy.
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