autosomal recessive limb-girdle muscular dystrophy type 2W
Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016333
familial dilated cardiomyopathy
is_a
LGMD2W
exact
LIMS2 autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2
exact
muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue
exact
muscular dystrophy, limb-girdle, type 2W
exact
muscular dystrophy, limb-girdle, type 2w
exact