Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Disease Synonyms 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 ORPHA code 544602 OMIM code 618414 ICD10 code G71.2 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