Autosomal recessive limb-girdle muscular dystrophy type 2D

MONDO:0011968

Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is 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.

Also known as: Alpha-sarcoglycanopathy, DMDA2, LGMD2D, SGCA autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA, limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency, limb-girdle muscular dystrophy type 2D, muscular dystrophy, limb-girdle, autosomal recessive 3

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