paramyotonia congenita of Von Eulenburg
Findings
No curated finding names paramyotonia congenita of Von Eulenburg yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).
Definition from the Mondo Disease Ontology (MONDO:0008195), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
50 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.
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Congenital hip dislocationHPOHP:0001374
- 1 of 1 reported patient
- CyanosisHPOHP:0000961
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 · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: paramyotonia congenita of Von Eulenburg
- Also called
- paramyotonia congenita