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

7 clinical trials for this condition and its sub-types, 1 tagged with Rigid spine muscular dystrophy 1 itself.

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Sub-types of Rigid spine muscular dystrophy 1

Desmin-related myopathy with Mallory body-like inclusions 0 trials

Including sub-types (7) Tagged with Rigid spine muscular dystrophy 1 (1)

Trials to join now! 1

Gene hunt for rare muscle diseases could unlock future treatments

Knowledge-focused Recruiting now

This research study at Boston Children's Hospital is looking at the genes and proteins involved in congenital myopathies—rare muscle diseases that are present from birth. Researchers will analyze DNA from up to 4,000 participants, including patients and their family members, to f…

Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:00 UTC

Rigid spine muscular dystrophy 1

Where it sits in the disease tree

Gene hunt for rare muscle diseases could unlock future treatments