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Up to: Autosomal recessive limb-girdle muscular dystrophy · Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
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.
This condition has no sub-types.