Limb-girdle muscular dystrophy, type 2D
Alternate names[edit | edit source]
LGMD2D; Muscular dystrophy limb-girdle with alpha-sarcoglycan; Alpha-sarcoglycanopathy; Duchenne-like autosomal recessive muscular dystrophy, type 2; DMDA2
Definition[edit | edit source]
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 source]
Limb-girdle muscular dystrophy, type 2D is a rare disease.
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