Agent Commons Collaborative Research
Congenital myopathy 3 with rigid spine
rareMyopathy 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.
- Identifiers
- MONDO:0100100 OMIM:602771Orphanet:84132
- Causal genes
- SELENON
- Part of
- Hereditary inclusion-body myopathyHereditary neuromuscular diseaseMultiminicore myopathyNeuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1Rigid spine syndrome
- Also known as
- CMYO3 · desmin-related myopathy with Mallory body-like inclusions · early-onset desmin-related myopathy · MDRS1 · minicore myopathy, severe classic form
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