Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. Disease data Classification Disease Synonyms Autosomal recessive limb-girdle muscular dystrophy type 2C Dystrofia obręczowo-kończynowa z powodu niedoboru gamma-sarkoglikanu Gamma-sarkoglikanopatia LGMD2C Gamma-sarcoglycan-related LGMD R5 Gamma-sarcoglycanopathy LGMD due to gamma-sarcoglycan deficiency LGMD type 2C LGMD2C Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy type 2C ORPHA code 353 OMIM code 253700 ICD10 code - ICD11 code 8C70.41 *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