Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. Disease data Classification Disease Synonyms Alpha-sarcoglycan-related LGMD R3 Alfa-sarkoglikanopatia Dystrofia obręczowo-kończynowa z powodu niedoboru alfa-sarkoglikanu LGMD2D Alpha-sarcoglycanopathy Autosomal recessive limb-girdle muscular dystrophy type 2D LGMD due to alpha-sarcoglycan deficiency LGMD type 2D LGMD2D Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy type 2D ORPHA code 62 OMIM code 608099 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