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ORPHA:98809

Paroxysmal kinesigenic dyskinesia

high confidenceDisorder

Also known as: Familial PKD · Familial paroxysmal kinesigenic dyskinesia · Paroxysmal kinesigenic choreathetosis

Publications

859

84.2th percentile

Trials

1

Interventional, condition-specific

Researchers

1,048

Distinct authors in sample

Gene link

TMEM151A

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.

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.

Additional Mondo synonyms (3)

familial PKD · familial paroxysmal kinesigenic dyskinesia · paroxysmal kinesigenic choreathetosis

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — TMEM151A

  2. LiteraturePresent

    859 matched papers (561 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Migraine; Writer's cramp; Focal sensory seizure) Source

  4. Animal modelPresent

    4 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 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?

Yes — we know a specific gene responsible (TMEM151A).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

23

Associated phenotypes · MONDO:0044202

  • Migraine
  • Writer's cramp
  • Focal sensory seizure
  • Dystonia
  • Chorea

Showing 5 of 23 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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?

859

859 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=3967) is 59.

859 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).

561 in the last 10 years · high confidence · 84.2th percentile (publications denominator)

Phrase hits: 777 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,048

Distinct author names in 200 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.

  1. 01
    Cao L11 papers · 2024

    Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai JiaoTong University School of Medicine, Shanghai 200025, P.R. China.

    Papers in Europe PMC
  2. 02
    Wu ZY10 papers · 2026

    Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China.

    Papers in Europe PMC
  3. 03
    Zhang Y10 papers · 2026

    Department of Neurology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan, China.

    Papers in Europe PMC
  4. 04
    Huang X8 papers · 2026

    Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Li HF8 papers · 2026

    Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Zhejiang University School of Medicine, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  6. 06
    Chen DF7 papers · 2026

    Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Zhejiang University School of Medicine, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  7. 07
    Chen YL7 papers · 2026

    Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Zhejiang University School of Medicine, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  8. 08
    Li X7 papers · 2026

    Huaxi MR Research Center (HMRRC), Department of Radiology, West China Hospital of Sichuan University, Chengdu, Sichuan Province, China.

    Papers in Europe PMC
  9. 09
    Liu X7 papers · 2026

    Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.

    Papers in Europe PMC
  10. 10
    Zhou D7 papers · 2026

    Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan Province, China.

    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 · last trial check 28 July 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.

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 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 kinesigenic dyskinesia" OR "Familial PKD" OR "Familial paroxysmal kinesigenic dyskinesia" OR "Paroxysmal kinesigenic choreathetosis") OR ("TMEM151A" OR "TMEM151A syndrome" OR "TMEM151A-related")

Run this search on Europe PMC

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

"Paroxysmal kinesigenic dyskinesia" OR "Familial PKD" OR "Familial paroxysmal kinesigenic dyskinesia" OR "Paroxysmal kinesigenic choreathetosis"

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 2026-07-27T05:25:18.256Z