ORPHA:319189
Familial cortical myoclonus
Publications
151
51.4th percentile
Trials
1
Interventional, condition-specific
Researchers
825
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Familial cortical myoclonus is a rare, genetic movement disorder characterized by , adult-onset, slowly , multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. or other neurological deficits, aside from mild cerebellar late in the course of the illness, are absent.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (3)
familial cortical myoclonus · familial myoclonus · myoclonus, familial cortical
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
151 matched papers (66 in last 10 years) Source
- Phenotype characterisedPresent
11 HPO annotations (e.g. Intellectual disability; Limb myoclonus; Dystonia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
11
Associated phenotypes · MONDO:0013981
- Intellectual disability
- Limb myoclonus
- Dystonia
- Delayed ability to walk
- Seizure
Showing 5 of 11 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
151
151 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=3967) is 59.
151 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
66 in the last 10 years · high confidence · 51.4th percentile (publications denominator)
Phrase hits: 151 · MeSH hits: 0
Who's working on it?
825
Distinct author names in 151 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Ikeda A16 papers · 2026
Department of Epilepsy, Movement disorders and Physiology, Kyoto University Graduate School of medicine.
Papers in Europe PMC - 02Kobayashi K13 papers · 2026
Department of Neurology, Kyoto University Graduate School of medicine.
Papers in Europe PMC - 03Hitomi T12 papers · 2026
Department of Neurology, Kyoto University School of Medicine, Kyoto, Japan.
Papers in Europe PMC - 04Takahashi R12 papers · 2026
Department of Neurology, Kyoto University Graduate School of medicine.
Papers in Europe PMC - 05Tsuji S9 papers · 2026
Department of Molecular Neurology, The University of Tokyo Hospital, Tokyo, Japan.
Papers in Europe PMC - 06Matsumoto R8 papers · 2026
Department of Epilepsy, Movement disorders and Physiology, Kyoto University Graduate School of medicine.
Papers in Europe PMC - 07Matsuhashi M7 papers · 2026
Human Brain Research Center, Kyoto University Graduate School of Medicine, Japan.
Papers in Europe PMC - 08Tojima M7 papers · 2026
Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Papers in Europe PMC - 09Ishiura H5 papers · 2026
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.
Papers in Europe PMC - 10Neshige S5 papers · 2026
Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 11 September 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
high confidence · 80.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06593444·NOT YET RECRUITING·Thalamic Ventral Intermediate Electrical Stimulation for Refractory Familial Cortical Myoclonus with Epilepsy
Not reviewed·Conditions: Epilepsy (treatment Refractory)·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (3)
- ctis·2024-519783-41-00·Authorised·Early optimization of ceftazidine dosing regimen in critical care : FORTOPTIM_1
skipped — LLM skipped (--skip-llm)
- ctis·2024-517763-22-00·Cancelled·Midazolam and mORPHine to alleviate symptoms at the End of life in patients on acUte geriatric wardS (MORPHEUS study)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514012-28-00·Authorised, ongoing·Effectiveness of ambroxol in children and adults with Gaucher disease 3: n-of-1 series
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Familial cortical myoclonus — check Associations / patient organisations on that page.
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.
"Familial cortical myoclonus" OR "familial myoclonus" OR "myoclonus, familial cortical"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial cortical myoclonus" OR "familial myoclonus" OR "myoclonus, familial cortical"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 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 2026-07-27T13:17:52.420Z