Disease - Myopathy, autosomal recessive, with rigid spine and distal joint contractures
Definition
An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life.
Acronym
MRRSDC
Synonyms
LGMD2Y
Limb-girdle muscular dystrophy 2Y
Muscular dystrophy, limb-girdle, type 2Y
Limb-girdle muscular dystrophy 2Y
Muscular dystrophy, limb-girdle, type 2Y
Keywords
Disclaimer
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