autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
CAPN3 autosomal recessive limb-girdle muscular dystrophy
exact
LGMD2
related
LGMD2A
exact
Leyden-Moebius muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3
exact
autosomal recessive limb-girdle muscular dystrophy type 2A
exact
calpainopathy
exact
limb-girdle muscular dystrophy due to calpain deficiency
exact
limb-girdle muscular dystrophy type 2
related
limb-girdle muscular dystrophy type 2A
exact
muscular dystrophy limb girdle type 2A, erb type
related
muscular dystrophy, limb-girdle, autosomal recessive 1
exact
muscular dystrophy, limb-girdle, type 2A
exact
primary calpainopathy
exact