Potassium-aggravated myotonia
ORPHA:612
Definition
A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood