Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported. Disease data Klasyfikacja Disease Synonimy L-CMD L-CMD Wrodzona dystrofia mięśniowa związana z LMNA LMNA-related congenital muscular dystrophy Kod ORPHA 157973 Kod OMIM 613205 Kod ICD10 G71.2 Kod ICD11 - *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