/autosomal recessive limb-girdle muscular dystrophy type 2O

autosomal recessive limb-girdle muscular dystrophy type 2O

Rare Disease

MONDO:0013161

Also Known As

LGMD-POMGNT1 relatedLGMD2OMDDGC3POMGNT1 autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1muscular dystrophy-dystroglycanopathy (limb-girdle) type C3muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-relatedlimb-girdle muscular dystrophy type 2Omuscular dystrophy, limb-girdle, type 2Omuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.