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Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
Biomarker and diagnostic research for acetazolamide-responsive myotonia has been reported in the published literature.
Estimated prevalence: 1-9 in 1,000,000 (Rare).
No clinical trials have been registered for acetazolamide-responsive myotonia.
124 publications have been identified in PubMed for acetazolamide-responsive myotonia. Kisho has analyzed 26 by research type. Research spans Case Report / Case Series (35%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 35% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:10 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about acetazolamide-responsive myotonia
Laboratory research |
7 |
27% |
Research summaries | 4 | 15% |
Disease patterns and progression | 3 | 12% |
New treatment approaches | 2 | 8% |
Testing and diagnosis research | 1 | 4% |
Vydra DG (2026). [PMID: 32491378](https://pubmed.ncbi.nlm.nih.gov/32491378/). *Unknown Journal*. [Diagnostic / Biomarker]
Suzui R (2026). [PMID: 42037975](https://pubmed.ncbi.nlm.nih.gov/42037975/). *Cureus*. [Case Report / Case Series]
Forouzanfar ES (2026). [PMID: 32966006](https://pubmed.ncbi.nlm.nih.gov/32966006/). *Unknown Journal*. [Review / Meta-Analysis]
Sanaulla S (2026). [PMID: 42021513](https://pubmed.ncbi.nlm.nih.gov/42021513/). *Ann Afr Med*. [Basic Science / Preclinical]
Li J (2025). [PMID: 40200352](https://pubmed.ncbi.nlm.nih.gov/40200352/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Wu P (2025). [PMID: 40410591](https://pubmed.ncbi.nlm.nih.gov/40410591/). *EMBO Mol Med*. [Gene Therapy / Novel Therapeutics]
Yu HP (2025). [PMID: 40998070](https://pubmed.ncbi.nlm.nih.gov/40998070/). *Gene*. [Gene Therapy / Novel Therapeutics]
Onnée M (2025). [PMID: 40112751](https://pubmed.ncbi.nlm.nih.gov/40112751/). *Neuromuscul Disord*. [Review / Meta-Analysis]
Altin N (2025). [PMID: 41473596](https://pubmed.ncbi.nlm.nih.gov/41473596/). *Hum Mutat*. [Case Report / Case Series]
Silva MS (2025). [PMID: 40262809](https://pubmed.ncbi.nlm.nih.gov/40262809/). *Arq Neuropsiquiatr*. [Case Report / Case Series]