myotonia congenita, autosomal dominant

Findings

No curated finding names myotonia congenita, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Juvenile onset · Childhood onset · Early young adult onset

HPO, annotations 2026-09-02

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.

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.

Where it sits

A kind of

• hereditary neuromuscular disease
• Thomsen and Becker disease

Resolves to: myotonia congenita, autosomal dominant

Also called

myotonia congenita, dominantThomsen disease