Rigid spine muscular dystrophy 1

MONDO:0011271

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.

Also known as: classic MmD, classic multiminicore disease, classic multiminicore myopathy, rigid spine syndrome, MDRS1, RSMD1, RSS, SELENON rigid spine syndrome

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