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 exten...
Comprehensive, easy-to-understand information about this condition
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Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
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