/congenital muscular dystrophy due to integrin alpha-7 deficiency

congenital muscular dystrophy due to integrin alpha-7 deficiency

Rare Disease

MONDO:0013177

Also Known As

ITGA7 congenital muscular dystrophycongenital muscular dystrophy caused by mutation in ITGA7congenital muscular dystrophy with ITGA7 deficiencycongenital muscular dystrophy with integrin alpha-7 deficiencycongenital myopathy due to integrin alpha-7 deficiencymuscular dystrophy, congenital, due to ITGA7 deficiencymuscular dystrophy, congenital, due to integrin ALPHA-7 deficiencymyopathy, congenital, 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.