Autosomal recessive limb-girdle muscular dystrophy type R18

A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

Also known as: LGMD2S, TRAPPC11 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11, autosomal recessive limb-girdle muscular dystrophy type 2S, muscular dystrophy, limb-girdle, autosomal recessive 18, muscular dystrophy, limb-girdle, type 2S, limb-girdle muscular dystrophy type 2S

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