/autosomal recessive limb-girdle muscular dystrophy type 2D

autosomal recessive limb-girdle muscular dystrophy type 2D

Rare Disease

MONDO:0011968

Also Known As

Alpha-sarcoglycanopathyDMDA2Duchenne-like autosomal recessive muscular dystrophy type 2LGMD2DSGCA autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCAlimb-girdle muscular dystrophy due to alpha-sarcoglycan deficiencylimb-girdle muscular dystrophy type 2Dmuscular dystrophy, limb-girdle, autosomal recessive 3muscular dystrophy, limb-girdle, type 2Dprimary adhalinopathyAdhalinopathy, primaryDuchenne-like autosomal recessive muscular dystrophy, type 2limb-girdle muscular dystrophy, type 2Dmuscular dystrophy limb-girdle with alpha-sarcoglycan

Definition

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.