Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal. Disease data Klasyfikacja Disease Synonimy Congenital myopathy with fast-twitch fiber atrophy Congenital myopathy with reduced type II muscle fibers Congenital myopathy with type 2 muscle fiber atrophy Congenital myopathy with type II fiber atrophy Congenital myopathy with fast-twitch fiber atrophy Congenital myopathy with reduced type II muscle fibers Congenital myopathy with type 2 muscle fiber atrophy Congenital myopathy with type II fiber atrophy Kod ORPHA 544602 Kod OMIM 618414 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