Limb-girdle muscular dystrophy, type 2D

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Alternate names[edit]

LGMD2D; Muscular dystrophy limb-girdle with alpha-sarcoglycan; Alpha-sarcoglycanopathy; Duchenne-like autosomal recessive muscular dystrophy, type 2; DMDA2

Definition[edit]

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.

NIH genetic and rare disease info[edit]

Limb-girdle muscular dystrophy, type 2D is a rare disease.

Rare and genetic diseases

Rare diseases - Limb-girdle muscular dystrophy, type 2D

A-Z list of rare diseases
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