Limb-girdle muscular dystrophy type 1A
Alternate names[edit | edit source]
LGMD1A; Muscular dystrophy, proximal, type 1A; LGMD1
Definition[edit | edit source]
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
NIH genetic and rare disease info[edit source]
Limb-girdle muscular dystrophy type 1A is a rare disease.
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