acetazolamide-responsive myotonia
Findings
No curated finding names acetazolamide-responsive myotonia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
Definition from the Mondo Disease Ontology (MONDO:0020483), read 2026-09-29. CC BY 4.0.
Features
12 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.
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- MyalgiaHPOHP:0003326
- Very frequent (80% to 99% of cases)
- MyotoniaHPOHP:0002486
- Very frequent (80% to 99% of cases)
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- EMG abnormalityHPOHP:0003457
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- HypothyroidismHPOHP:0000821
- Occasional (5% to 29% of cases)
- OphthalmoparesisHPOHP:0000597
- Occasional (5% to 29% of cases)
- OphthalmoplegiaHPOHP:0000602
- Occasional (5% to 29% of cases)
- Skeletal muscle hypertrophyHPOHP:0003712
- Occasional (5% to 29% of cases)
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
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: acetazolamide-responsive myotonia
- Also called
- Acetazolamide-responsive congenital myotoniaACZ-responsive congenital myotoniaACZ-responsive myotoniamyotonia-painful contractions syndromepainful congenital myotoniapainful myotonia