ORPHA:99736
Acetazolamide-responsive myotonia
Also known as: ACZ-responsive congenital myotonia · ACZ-responsive myotonia · Acetazolamide-responsive congenital myotonia · Myotonia-painful contractions syndrome · Painful congenital myotonia · Painful myotonia
Publications
651
86.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,169
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020483
- UMLS:C4275008
Additional Mondo synonyms (3)
myotonia-painful contractions syndrome · painful congenital myotonia · painful myotonia
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
651 matched papers (356 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
651
651 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
651 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
356 in the last 10 years · high confidence · 86.9th percentile (publications denominator)
Phrase hits: 651 · MeSH hits: 0
Who's working on it?
1,169
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Hanna MG9 papers · 2025
Centre for Neuromuscular Diseases, QS UCL Institute of Neurology, London, UK.
Papers in Europe PMC - 02Altamura C5 papers · 2025
Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy.
Papers in Europe PMC - 03Desaphy JF5 papers · 2025
Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy.
Papers in Europe PMC - 04Maggi L5 papers · 2024
Neurology IV, Neuromuscular Diseases and Neuroimmunology Unit, I.R.C.C.S. Fondazione Istituto Neurologico "Carlo Besta", Via Celoria 11, 20133 Milano, Italy.
Papers in Europe PMC - 05Kubota T4 papers · 2026
Department of Neurology, Osaka University Graduate School of Medicine, Japan; Department of Biochemistry and Molecular Biology, The University of Chicago, United States; Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Japan.
Papers in Europe PMC - 06Li Y4 papers · 2025
Department of Neurology, Zibo Changguo Hospital, Zibo, 255000, China.
Papers in Europe PMC - 07Männikkö R4 papers · 2025
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK, and.
Papers in Europe PMC - 08Takahashi MP4 papers · 2026
Department of Neurology, Osaka University Graduate School of Medicine, Japan; Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Japan. Electronic address: mtakahas@neurol.med.osaka-u.ac.jp.
Papers in Europe PMC - 09Vivekanandam V4 papers · 2024
Centre for Neuromuscular Diseases, QS UCL Institute of Neurology, London, UK.
Papers in Europe PMC - 10Brugnoni R3 papers · 2024
Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Acetazolamide-responsive myotonia" OR "ACZ-responsive congenital myotonia" OR "ACZ-responsive myotonia" OR "Acetazolamide-responsive congenital myotonia" OR "Myotonia-painful contractions syndrome" OR "Painful congenital myotonia" OR "Painful myotonia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acetazolamide-responsive myotonia" OR "ACZ-responsive congenital myotonia" OR "ACZ-responsive myotonia" OR "Acetazolamide-responsive congenital myotonia" OR "Myotonia-painful contractions syndrome" OR "Painful congenital myotonia" OR "Painful myotonia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T06:14:35.122Z