Congenital muscular dystrophy due to integrin alpha-7 deficiency
Congenital muscular dystrophy due to integrin alpha-7 deficiency
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.
Also known as congenital muscular dystrophy caused by mutation in ITGA7, congenital muscular dystrophy with integrin alpha-7 deficiency, congenital muscular dystrophy with ITGA7 deficiency, ITGA7 congenital muscular dystrophy — per MONDO