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Autosomal recessive limb-girdle muscular dystrophy type R18
rareA 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.
- Identifiers
- MONDO:0014144 OMIM:615356Orphanet:369840
- Causal genes
- TRAPPC11
- Part of
- Autosomal recessive limb-girdle muscular dystrophyIntellectual disability-hyperkinetic movement-truncal ataxia syndrome
- Also known as
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11 · autosomal recessive limb-girdle muscular dystrophy type 2S · LGMD2S · limb-girdle muscular dystrophy type 2S · muscular dystrophy, limb-girdle, autosomal recessive 18
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