/rigid spine muscular dystrophy 1

rigid spine muscular dystrophy 1

Rare Disease

MONDO:0011271

Also Known As

classic MmDclassic multiminicore diseaseclassic multiminicore myopathyrigid spine syndromeEichsfeld type congenital muscular dystrophyMDRS1RSMD1RSSSELENON rigid spine syndromecongenital merosin-positive muscular dystrophy with early spine rigiditydesmin-related myopathy with Mallory bodiesminicore myopathy, severe classic formmulticore myopathy, severe classic formmultiminicore disease, severe classic formmuscular dystrophy, congenital, Eichsfeld typemuscular dystrophy, congenital, merosin-positive, with early spine rigiditymuscular dystrophy, rigid spine, 1myopathy, SEPN1-relatedrigid spine muscular dystrophy 1rigid spine muscular dystrophy type 1rigid spine syndrome caused by mutation in SELENONsevere classic form minicore myopathysevere classic form multicore myopathysevere classic form multiminicore diseaseSEPN1-related myopathy

Definition

An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.