ORPHA:53583
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Also known as: DYT9 · Episodic choreoathetosis/spasticity
Clinical definition (Orphanet)
A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with spastic paraparesis (onest in adulthood), gait , mild to moderate cognitive impairment, and/or epileptic . Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.
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.
Is anyone studying this?
696
696 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=183) is 38.
696 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).
421 in the last 10 years · low confidence
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (SLC2A1).
GenCC classification: Strong.
Who's working on it?
1,301
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.
- 01Yadav R4 papers · 2024
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Papers in Europe PMC - 02Hallett M3 papers · 2025
Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 03Jinnah HA3 papers · 2025
Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, GA.
Papers in Europe PMC - 04Lang AE3 papers · 2025
Edmond J. Safra Program in Parkinson's Disease, the Rossy Progressive Supranuclear Palsy Centre, and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada.
Papers in Europe PMC - 05Liu Y3 papers · 2025
Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, CHN.
Papers in Europe PMC - 06
- 07Pal PK3 papers · 2024
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Papers in Europe PMC - 08Pandey S3 papers · 2025
Department of Neurology and Stroke Medicine, Amrita Institute of Medical Sciences, Faridabad, Delhi National Capital Region, India.
Papers in Europe PMC - 09Yang Y3 papers · 2026
Department of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China.
Papers in Europe PMC - 10Banerjee TK2 papers · 2026
Department of Neurology, National Neurosciences Centre, Kolkata, India.
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.
Observational and natural-history studies
2 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
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
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 2026-07-26This 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 below but are not added to the query string.
"Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" OR "Episodic choreoathetosis/spasticity" OR "dystonia 9" OR "dystonia type 9"
MeSH descriptor terms unioned into the query: Choreoathetosis-Spasticity, Episodic
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" OR "Episodic choreoathetosis/spasticity" OR "dystonia 9" OR "dystonia type 9" OR "Choreoathetosis-Spasticity, Episodic" OR "SLC2A1"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C563401 OMIM:601042 UMLS:C1832855
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: DYT9
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
- Publication count (696) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity