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ORPHA:71517

Rapid-onset dystonia-parkinsonism

low confidenceDisorder

Also known as: DYT12 · Dystonia 12

Publications

3,632

Trials

0

Interventional, condition-specific

Researchers

1,250

Distinct authors in sample

Gene link

ATP1A3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

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

Cross-references

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

Additional Mondo synonyms (6)

ATP1A3 dystonic disorder · DYT-ATP1A3 · dystonia 12 · dystonia type 12 · dystonia-12 · dystonic disorder caused by mutation in ATP1A3

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — ATP1A3

  2. LiteraturePresent

    3,632 matched papers (2,155 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Motor delay; Postural instability; Dysphagia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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?

Yes — we know a specific gene responsible (ATP1A3).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

36

Associated phenotypes · MONDO:0007496

  • Motor delay
  • Postural instability
  • Dysphagia
  • Parkinsonism
  • Dystonia

Showing 5 of 36 — 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?

3,632

3,632 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.

3,632 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).

2,155 in the last 10 years · low confidence

Phrase hits: 898 · MeSH hits: 7

Open Europe PMC search

Who's working on it?

1,250

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
    Brashear A13 papers · 2026

    Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York 14203.

    Papers in Europe PMC
  2. 02
    Sweadner KJ10 papers · 2026

    Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts 02114 ksweadner@mgh.harvard.edu.

    Papers in Europe PMC
  3. 03
    Haq IU8 papers · 2026

    Department of Neurology, Wake Forest School of Medicine Winston-Salem, NC, United States. Electronic address: ihaq@med.miami.edu.

    Papers in Europe PMC
  4. 04
    Ozelius LJ8 papers · 2026

    Segawa Memorial Neurological Clinic for Children (K.H., K.K., H.F., M.H.), Tokyo, Japan; Department of Neurosurgery (K.J.S.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Clinical Neuroscience (T.K., R.K.), Institute of Biomedical Sciences, Tokushima University, Japan; Medical Genetics Division (J.A.S., K.C.D.) and Neurology Division (J.A.S.), Hospital de Clínicas de Porto Alegre (HCPA); Graduate Program in Medicine: Medical Sciences and Internal Medicine Department (J.A.S.), Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Neurophysiology Division (J.F., J.D.), Hospital de Santo António, Centro Hospitalar Universitário do Porto; UniGene (J.F., J.D.), Instituto de Biologia Molecular e Celular, i3s Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Diagnostic Radiology and Nuclear Medicine (T.H.), Gunma University Graduate School of Medicine, Japan; Department of Neurology (Y.I.), Gunma University Graduate School of Medicine, Japan; and Department of Neurology (L.J.O.), Massachusetts General Hospital, Charlestown.

    Papers in Europe PMC
  5. 05
    Napoli E5 papers · 2026

    Department of Neurology, University of California Davis School of Medicine, Sacramento, California 95817.

    Papers in Europe PMC
  6. 06
    Snively BM5 papers · 2025

    Department of Biostatistics and Data Science, Wake Forest School of Medicine Winston-Salem, NC, United States.

    Papers in Europe PMC
  7. 07
    Albanese A4 papers · 2026

    Department of Neurology, IRCCS Fondazione Mondino, Pavia, Italy.

    Papers in Europe PMC
  8. 08
    Fung VSC4 papers · 2025

    Movement Disorders Unit, Neurology Department, Westmead Hospital Westmead New South Wales Australia.

    Papers in Europe PMC
  9. 09
    Jinnah HA4 papers · 2026

    Department of Neurology, Emory University, Atlanta, GA, United States.

    Papers in Europe PMC
  10. 10
    Li Y4 papers · 2026

    Norman Fixel Institute of Neurological Diseases, McKnight Brain Institute, and Department of Neurology, College of Medicine, University of Florida, Gainesville, FL 32610-0236, USA.

    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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

low 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.

Observational and natural-history studies

3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 30 · after dedupe 30 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 30 · 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 (30)

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 Rapid-onset dystonia-parkinsonism — 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.

("Rapid-onset dystonia-parkinsonism" OR "DYT12" OR "Dystonia 12" OR "ATP1A3 dystonic disorder" OR "DYT-ATP1A3" OR "dystonia type 12" OR "dystonia-12" OR "dystonic disorder caused by mutation in ATP1A3") OR (MESH:"Dystonia 12") OR ("ATP1A3" OR "ATP1A3 syndrome" OR "ATP1A3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Dystonia 12

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

"Rapid-onset dystonia-parkinsonism" OR "DYT12" OR "Dystonia 12" OR "ATP1A3 dystonic disorder" OR "DYT-ATP1A3" OR "dystonia type 12" OR "dystonia-12" OR "dystonic disorder caused by mutation in ATP1A3"

Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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
  • Publication count (3632) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:42:12.763Z