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ORPHA:98810

Paroxysmal non-kinesigenic dyskinesia

high confidenceDisorder

Also known as: Paroxystic non-kinesigenic choreoathetosis

Publications

199

61.6th percentile

Trials

0

Interventional, condition-specific

Researchers

1,238

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    199 matched papers (135 in last 10 years) Source

  3. Phenotype characterisedPresent

    25 HPO annotations (e.g. Paroxysmal dyskinesia; Choreoathetosis; Hyperkinetic movements) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

25

Associated phenotypes · MONDO:0700088

  • Paroxysmal dyskinesia
  • Choreoathetosis
  • Hyperkinetic movements
  • Trismus
  • Torticollis

Showing 5 of 25 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

199

199 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.

199 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).

135 in the last 10 years · high confidence · 61.6th percentile (publications denominator)

Phrase hits: 199 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,238

Distinct author names in 199 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.

  1. 01
    Bhatia KP6 papers · 2025

    Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom.

    Papers in Europe PMC
  2. 02
    Meredith AL6 papers · 2023

    Department of Physiology, University of Maryland School of Medicine, Baltimore, Maryland, US.

    Papers in Europe PMC
  3. 03
    LeDoux MS5 papers · 2025

    University of Tennessee Health Science Center, Department of Neurology, 855 Monroe Avenue, Link Building, Suite 415, Memphis, TN 38163, USA. mledoux@uthsc.edu

    Papers in Europe PMC
  4. 04
    Li J4 papers · 2026

    Department of Functional Neurosurgery, Xuanwu Hospital of Capital Medical University, Beijing, China.

    Papers in Europe PMC
  5. 05
    Moldenhauer HJ4 papers · 2022

    Department of Physiology, University of Maryland School of Medicine, Baltimore, United States.

    Papers in Europe PMC
  6. 06
    Park SM4 papers · 2022

    Department of Physiology, University of Maryland School of Medicine, Baltimore, Maryland, US.

    Papers in Europe PMC
  7. 07
    Roze E4 papers · 2025

    From the Institute of Neurogenetics (J. Junker, V.B., A.W., N.B.) and Department of Neurology (J. Junker, N.B.), University of Luebeck, Germany; Department of Psychology (V.B.), Centre for Innovation in Mental Health, University of Southampton, UK; Department of Neurology (B.D.B.), University of Colorado Anschutz Medical Campus, Aurora; Neurology Section (B.D.B.), Denver VA Medical Center, CO; Département de Neurologie (M.V., E.R.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hopitaux de Paris; Sorbonne Universités (M.V.), Pierre Marie Curie Paris-6, Institute of Brain and Spine (ICM), Inserm U 1127, Paris, France; Department of Neurology (C.C.), Rush University Medical Center, Chicago, IL; Department of Neurology (I.A.M.), Center for Movement Disorders and Neurorestoration, University of Florida, Gainesville; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (M.S.L.), University of Tennessee Health Science Center, Memphis; Neuromed Institute (IRCCS) (A.B.), Pozzilli (IS), and Department of Neurology and Psychiatry, Sapienza University di Roma, Italy; Department of Neurology (R.B.), University of Rochester Medical Center, NY; Department of Neurology (S.G.R.), University of Maryland Medical Center, Baltimore; Department of Neurology (J.S.P.), Washington University in St. Louis, MO; and Department of Neurology and Human Genetics (H.A.J.), Emory University, Atlanta, GA.

    Papers in Europe PMC
  8. 08
    Jinnah HA3 papers · 2025

    Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, Georgia, USA.

    Papers in Europe PMC
  9. 09
    Keros S3 papers · 2022

    Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.

    Papers in Europe PMC
  10. 10
    Kratschmer P3 papers · 2023

    Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Paroxysmal non-kinesigenic dyskinesia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Paroxysmal non-kinesigenic dyskinesia" OR "Paroxystic non-kinesigenic choreoathetosis"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Paroxysmal non-kinesigenic dyskinesia" OR "Paroxystic non-kinesigenic choreoathetosis"

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 2026-07-27T05:25:28.107Z