ORPHA:99735
Myotonia permanens
Publications
66
40.6th percentile
Trials
0
Interventional, condition-specific
Researchers
255
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020482
- UMLS:C5848361
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
66 matched papers (25 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?
66
66 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
66 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).
25 in the last 10 years · high confidence · 40.6th percentile (publications denominator)
Phrase hits: 66 · MeSH hits: 0
Who's working on it?
255
Distinct author names in 66 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.
- 01Cannon SC8 papers · 2020
Department of Physiology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Papers in Europe PMC - 02Lehmann-Horn F7 papers · 2017
Department of Physiology, University of Ulm, Germany.
Papers in Europe PMC - 03Jurkat-Rott K6 papers · 2017
Division of Neurophysiology, Ulm University, Albert-Einstein-Allee 11, 89089 Ulm, Germany. karin.jurkat-rott@uni-ulm.de
Papers in Europe PMC - 04Desaphy JF5 papers · 2024
Section of Pharmacology, Department of Pharmacy, University of Bari - Aldo Moro, Bari, Italy
Papers in Europe PMC - 05Hanna MG5 papers · 2020
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Papers in Europe PMC - 06Sternberg D5 papers · 2022
Institut National de la Santé et de la Recherche Médicale, U1127Paris, France; Sorbonne Universités, Université Pierre-et-Marie-Curie, UMR S1127Paris, France; Centre National de la Recherche Scientifique, UMR 7225Paris, France; Institut du Cerveau et de la Moelle Épinière, ICMParis, France; Assistance Publique - Hôpitaux de Paris (AP-HP), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-EstParis, France; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital de la Pitié Salpêtrière, Service de Biochimie Métabolique, Unité de Cardiogénétique et MyogénétiqueParis, France.
Papers in Europe PMC - 07Barohn RJ4 papers · 2020
Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA. Electronic address: rbarohn@kumc.edu.
Papers in Europe PMC - 08Griggs RC4 papers · 2020
Departments of Neurology, Medicine, Pathology and Laboratory Medicine, and Pediatrics, and Center for Human Experimental Therapeutics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box CU 420669, Rochester, New York 14642, USA.
Papers in Europe PMC - 09Matthews E4 papers · 2020
MRC Centre for Neuromuscular Diseases, UCL, Institute of Neurology, Queen Square, London, WC1N 3BG, England.
Papers in Europe PMC - 10Altamura C3 papers · 2024
Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70124 Bari, 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.
"Myotonia permanens"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Myotonia permanens"
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 2026-07-27T06:14:25.153Z