autosomal recessive limb-girdle muscular dystrophy type 2D
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.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016141
qualitative or quantitative defects of alpha-sarcoglycan
is_a
MONDO:0016333
familial dilated cardiomyopathy
is_a
Alpha-sarcoglycanopathy
exact
DMDA2
exact
LGMD2D
exact
SGCA autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA
exact
limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
exact
limb-girdle muscular dystrophy type 2D
exact
limb-girdle muscular dystrophy, type 2D
related
muscular dystrophy limb-girdle with alpha-sarcoglycan
related
muscular dystrophy, limb-girdle, autosomal recessive 3
exact
muscular dystrophy, limb-girdle, type 2D
exact