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autosomal recessive limb-girdle muscular dystrophy type 2S

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is 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.
Uniprot Description A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay.
Disease Ontology Description An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.
Mondo Term and Equivalent IDs
MONDO:0014144:  autosomal recessive limb-girdle muscular dystrophy type 2S
GARD:0012543: 
Orphanet:369840: 
UMLS:C3809236: