RARE DISEASERESEARCH ATLAS

ORPHA:98811

Paroxysmal exertion-induced dyskinesia

medium confidence

Also known as: DYT18 · Dystonia 18 · PED

Clinical definition (Orphanet)

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

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.

Orphanet entry

Is anyone studying this?

298

298 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=183) is 38.

298 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).

179 in the last 10 years · medium confidence · 79.8th percentile (publications denominator)

Is a treatment being tested?

0

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 26 July 2026

No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.

medium confidence · 29.6th percentile (trials denominator)

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.

Who's working on it?

1,042

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.

  1. 01
    Klein C7 papers · 2019

    Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: christine.klein@neuro.uni-luebeck.de.

    Papers in Europe PMC
  2. 02
    Jankovic J5 papers · 2025

    Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.

    Papers in Europe PMC
  3. 03
    Weber YG5 papers · 2019

    Neurologische Klinik and Institut für Anatomie und Zellbiologie, Universität Ulm, Ulm, Germany.

    Papers in Europe PMC
  4. 04
    Bhatia KP4 papers · 2025

    Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.

    Papers in Europe PMC
  5. 05
    Garosi L4 papers · 2024

    Davies Veterinary Specialists, Higham Gobion.

    Papers in Europe PMC
  6. 06
    Lerche H4 papers · 2015

    Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address: holger.lerche@uni-tuebingen.de.

    Papers in Europe PMC
  7. 07
    Lowrie M4 papers · 2024

    Davies Veterinary Specialists, Higham Gobion.

    Papers in Europe PMC
  8. 08
    Zech M4 papers · 2026

    Institut für Neurogenomik, Helmholtz Zentrum München, 85764 Munich, Germany; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany.

    Papers in Europe PMC
  9. 09
    Cereda C3 papers · 2022

    Newborn Screening and Genetic Metabolic Diseases Unit, V. Buzzi Children's Hospital, 20154 Milan, Italy.

    Papers in Europe PMC
  10. 10
    Hallett M3 papers · 2023

    From the Department of Rehabilitation (J.N.), Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Centre of Expertise for Parkinson & Movement Disorders; Department of Rehabilitation (J.N.), Sint Maartenskliniek, Nijmegen, the Netherlands; Department of Neurology and Centre of Clinical Neuroscience (E.R., T.S.), First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic; Department of Neurology (S.G.R.), The University of Maryland School of Medicine, Baltimore, MD; Department of Neurology (B.R.B.), Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Centre of Expertise for Parkinson & Movement Disorders, Nijmegen, the Netherlands; andNational Institute of Neurological Disorders and Stroke (M.H.), Bethesda, MD.

    Papers in Europe PMC

Recruiting interventional trials

Trials testing a treatment 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 above — 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 2026-07-26

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 below but are not added to the query string.

"Paroxysmal exertion-induced dyskinesia" OR "DYT18" OR "Dystonia 18"

Run this search on Europe PMC

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

"Paroxysmal exertion-induced dyskinesia" OR "DYT18" OR "Dystonia 18"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

0

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PED

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Report an error for ORPHA:98811