SELENON-related myopathy

MONDO:0100100

Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.

Also known as: SELENON-related myopathy, SEPN1-related myopathy

5 clinical trials for this condition and its sub-types, 1 tagged with SELENON-related myopathy itself.

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Where it sits in the disease tree

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Part of

↑ Congenital myopathy (75)

Sub-types of SELENON-related myopathy

Rigid spine muscular dystrophy 1 1 trial
1 sub-type
- Desmin-related myopathy with Mallory body-like inclusions 0 trials

Including sub-types (5) Tagged with SELENON-related myopathy (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

SELENON-related myopathy

Where it sits in the disease tree

Gene hunt for rare muscle diseases could unlock future treatments