autosomal recessive limb-girdle muscular dystrophy type 2Y
Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.
MONDO:0002320
congenital nervous system disorder
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MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
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MONDO:0100582
TOR1AIP1-related myopathy
is_a
LGMD2Y
exact
TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1
exact
autosomal recessive muscular dystrophy due to LAP1B deficiency
exact
autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
exact
muscular dystrophy with progressive weakness, distal contractures and rigid spine
exact
muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures
exact