SCN4A-related myopathy, autosomal recessive
Findings
No curated finding names SCN4A-related myopathy, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.
Definition from the Mondo Disease Ontology (MONDO:0100121), read 2026-09-29. CC BY 4.0.
Features
2 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, hp/releases/2026-09-01.
- Decreased fetal movementMondoHP:0001558
- Skeletal muscle atrophyMondoHP:0003202
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.
- SCN4AHGNC:10591
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · Illumina · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: SCN4A-related myopathy, autosomal recessive
- Also called
- congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosiscongenital myopathy with severe fetal hypokinesiacongenital myopathy with severe foetal hypokinesiamyopathy with ptosis and mild dystrophic pattern