Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Disease Synonyms Autosomal recessive limb-girdle muscular dystrophy type 2S LGMD2S LGMD type 2S LGMD2S Limb-girdle muscular dystrophy type 2S TRAPPC11-related LGMD R18 ORPHA code 369840 OMIM code 615356 ICD10 code G71.0 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl