Congenital muscular dystrophy due to integrin alpha-7 deficiency

MONDO:0013177

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: ITGA7 congenital muscular dystrophy, congenital muscular dystrophy caused by mutation in ITGA7, congenital muscular dystrophy with ITGA7 deficiency, congenital muscular dystrophy with integrin alpha-7 deficiency, muscular dystrophy, congenital, due to ITGA7 deficiency, muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency, myopathy, congenital, due to integrin Alpha-7 deficiency

5 clinical trials for this condition and its sub-types, 0 tagged with Congenital muscular dystrophy due to integrin alpha-7 deficiency itself.

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