congenital myopathy 3 with rigid spine
Findings
No curated finding names congenital myopathy 3 with rigid spine yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100100), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 8 of 8 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 8 of 8 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 8 of 8 reported patients
- Neck flexor weaknessHPOHP:0003722
- 17 of 17 reported patients
- Reduced vital capacityHPOHP:0002792
- 14 of 14 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 8 of 8 reported patients
- Decreased body weight
Show the remaining 12
- Poor head controlHPOHP:0002421
- 10 of 17 reported patients
- Spinal rigidityHPOHP:0003306
- 7 of 17 reported patients
- Motor delayHPOHP:0001270
- 5 of 17 reported patients
- Delayed ability to walkHPOHP:0031936
- 4 of 17 reported patients
- Loss of ambulationHPOHP:0002505
- 1 of 17 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 17 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SELENONHGNC:15999
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
16 names
Resolves to: congenital myopathy 3 with rigid spine
- Also called
- CMYO3desmin-related myopathy with Mallory body-like inclusionsearly-onset desmin-related myopathyMDRS1minicore myopathy, severe classic formmulticore myopathy, severe classic formmultiminicore disease, severe classic formmuscular dystrophy, congenital, Eichsfeld typemuscular dystrophy, congenital, merosin-positive, with early spine rigiditymyopathy, SEPN1-relatedrigid spine muscular dystrophy 1rigid spine syndrome caused by mutation in SELENONRSMD1SELENON rigid spine syndromeSELENON-related myopathy