Limb-girdle muscular dystrophy type 1A

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Alternate names

LGMD1A; Muscular dystrophy, proximal, type 1A; LGMD1

Definition

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

Limb-girdle muscular dystrophy type 1A is a rare disease.

Rare and genetic diseases

Rare diseases - Limb-girdle muscular dystrophy type 1A

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