Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. Disease data Classification Disease Synonyms Autosomal recessive limb-girdle muscular dystrophy type 2Q Autosomalna recesywna dystrofia obręczowo-kończynowa z powodu niedoboru plektyny LGMD2Q LGMD type 2Q LGMD2Q Limb-girdle muscular dystrophy type 2Q Plectin-related LGMD R17 ORPHA code 254361 OMIM code 613723 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