Acetazolamide-responsive myotonia
ORPHA:99736· ICD-10 G71.1
Definition
A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood