ORPHA:53583
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Also known as: DYT9 · Episodic choreoathetosis/spasticity
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
17,604
Trials
0
Interventional, condition-specific
Researchers
1,301
Distinct authors in sample
Gene link
SLC2A1
Strong
Readiness
3/6
Stages with a signal
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010983
- MeSH:C563401
- OMIM:601042
- UMLS:C1832855
Additional Mondo synonyms (3)
dystonia 9 · dystonia type 9 · episodic choreoathetosis/spasticity
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.
- Gene identifiedPresent
Strong — SLC2A1
- LiteraturePresent
17,604 matched papers (12,185 in last 10 years) Source
- Phenotype characterisedPresent
27 HPO annotations (e.g. Paresthesia; Diplopia; Choreoathetosis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (SLC2A1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
27
Associated phenotypes · MONDO:0010983
- Paresthesia
- Diplopia
- Choreoathetosis
- Cognitive impairment
- Abnormal pyramidal sign
Showing 5 of 27 — 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 2026-07-27
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)
1 associated chemical · 25 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Phenytoin · marker/mechanism
Pathways: HIF-1 signaling pathway; Insulin secretion; Thyroid hormone signaling pathway; Adipocytokine signaling pathway; Glucagon signaling pathway; Insulin resistance; Bile secretion; HTLV-I infection
Literature
Is anyone studying this?
17,604
17,604 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
17,604 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).
12,185 in the last 10 years · low confidence
Phrase hits: 696 · MeSH hits: 0
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
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 9 September 2026 · last trial check 9 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
1 observational study matches 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
- NCT03428009·RECRUITING·Dystonia Genotype-Phenotype Correlation
Conditions: Dystonia · Dystonia; Idiopathic · Dystonia, Primary · Dystonia, Secondary·Matched via name phrase
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.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 29 · after dedupe 29 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 28 · fetched 2026-07-27
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 (1)
- isrctn·ISRCTN13759640·Stopped·High-frequency deep brain stimulation in the treatment of movement disorders
Uncertain — At least one provider returned uncertain or parent-category.
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 dystonic choreathetosis with episodic ataxia and spasticity — check Associations / patient organisations on that page.
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 on the overview 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") OR (MESH:"Choreoathetosis-Spasticity, Episodic") OR ("SLC2A1" OR "SLC2A1 syndrome" OR "SLC2A1-related")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"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
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 (17604) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T01:35:34.041Z