Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal. Disease data Classification Disease Synonyms Autosomal recessive limb-girdle muscular dystrophy type 2F Delta-sarkoglikanopatia Dystrofia obręczowo-kończynowa z powodu niedoboru delta-sarkoglikanu LGMD2F Delta-sarcoglycan-related LGMD R6 Delta-sarcoglycanopathy LGMD due to delta-sarcoglycan deficiency LGMD type 2F LGMD2F Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Limb-girdle muscular dystrophy type 2F ORPHA code 219 OMIM code 601287 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