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Autosomal recessive limb-girdle muscular dystrophy type 2Y

MONDO:0014900

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.

Also known as: LGMD2Y, TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1, autosomal recessive muscular dystrophy due to LAP1B deficiency, autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency, muscular dystrophy with progressive weakness, distal contractures and rigid spine, muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures

42 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Neuromuscular disease (98) Muscular dystrophy (68) Muscle tissue disorder (53) Human disease (14) Limb-girdle muscular dystrophy (13) Myopathy (11)
Trials to join now! 21 Not yet recruiting 8 Not yet finished but already full! 4 Completed 8 Terminated 1
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