Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. Disease data Classification Disease Synonyms Congenital muscular dystrophy with ITGA7 deficiency Wrodzona dystrofia mięśniowa z niedoborem ITGA7 ORPHA code 34520 OMIM code 613204 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