Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. Disease data Classification Disease Synonyms Autosomal recessive limb-girdle muscular dystrophy type 2B Dystrofia obręczowo-kończynowa z powodu niedoboru dysferliny LGMD2B Dysferlin-related LGMD R2 LGMD due to dysferlin deficiency LGMD type 2B LGMD2B Limb-girdle muscular dystrophy due to dysferlin deficiency Limb-girdle muscular dystrophy type 2B ORPHA code 268 OMIM code 253601 ICD10 code G71.0 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