ORPHA:306734
Primary dystonia, DYT21 type
Also known as: DYT21
Publications
181
59.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,028
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.
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:0013813
- OMIM:614588
- UMLS:C3281236
Additional Mondo synonyms (2)
dystonia 21 · dystonia type 21
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.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
181 matched papers (122 in last 10 years) Source
- Phenotype characterisedPresent
12 HPO annotations (e.g. Dystonia; Paroxysmal dystonia; Focal dystonia) 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
12
Associated phenotypes · MONDO:0013813
- Dystonia
- Paroxysmal dystonia
- Focal dystonia
- Generalized dystonia
- Limb dystonia
Showing 5 of 12 — 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?
181
181 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=3967) is 59.
181 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).
122 in the last 10 years · high confidence · 59.9th percentile (publications denominator)
Phrase hits: 181 · MeSH hits: 0
Who's working on it?
1,028
Distinct author names in 181 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.
- 01LeDoux MS9 papers · 2022
Department of Neurology, University of Tennessee Health Science Center Memphis, Tennessee 38163, USA.
Papers in Europe PMC - 02Jinnah HA7 papers · 2023
Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, Georgia, USA.
Papers in Europe PMC - 03Hallett M6 papers · 2022
Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 04Jankovic J6 papers · 2025
Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic Baylor College of Medicine Houston Texas USA.
Papers in Europe PMC - 05Klein C6 papers · 2025
Institute of Neurogenetics and Department of Neurology University of Luebeck and University Hospital of Schleswig-Holstein Luebeck Germany.
Papers in Europe PMC - 06Defazio G5 papers · 2022
Department of Basic Medical Sciences, Neurosciences and Sensory Organs, "Aldo Moro", University of Bari, Bari, Italy.
Papers in Europe PMC - 07Berman BD4 papers · 2022
From the Division of Clinical Research (C.L.), National Institute of Neurological Disorders and Stroke, National Institutes of Health; Harvard Medical School (L.O., N.S.), Massachusetts General Hospital, Boston, MA; University of Alabama, Birmingham (D.S.), Birmingham, AL; Medical Neurology Branch (M.H.), NINDS, NIH, Bethesda, MD; Division of Neuroscience (B.-A.S., C.S.-F.), NINDS, NIH, Bethesda, MD; Department of Neurology (B.D.B.), University of Colorado Denver, Aurora, CO; Duke University School of Medicine, Durham, NC; RUCDR/Infinite Biologics (J.C.M.), Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ; Washington University School of Medicine (J.S.P.), St Louis, MO; Department of Neurology (S.E.P.R.), University of New Mexico Health Sciences Center, Albuquerque, NM; Department of Neurology (R.S.-P.), Icahn School of Medicine at Mount Sinai, New York, NY; Coriell Institute for Medical Research (L.S.), Camden, NJ; Department of Neuroscience (R.S.), Baylor College of Medicine, Houston, TX; Harvard Medical School (K.S.), Department of Otolaryngology, Head and Neck Surgery, Massachusetts Eye and Ear Institute, Boston, MA; Department of Neurological Surgery (P.A.S.), University of California San Francisco, San Francisco, CA; Division of Extramural Activities (A.T.), NINDS, NIH, Rockville, MD; and Department of Neurology (J.V.), University of Minnesota, Minneapolis, MN.
Papers in Europe PMC - 08Perlmutter JS4 papers · 2022
From the Division of Clinical Research (C.L.), National Institute of Neurological Disorders and Stroke, National Institutes of Health; Harvard Medical School (L.O., N.S.), Massachusetts General Hospital, Boston, MA; University of Alabama, Birmingham (D.S.), Birmingham, AL; Medical Neurology Branch (M.H.), NINDS, NIH, Bethesda, MD; Division of Neuroscience (B.-A.S., C.S.-F.), NINDS, NIH, Bethesda, MD; Department of Neurology (B.D.B.), University of Colorado Denver, Aurora, CO; Duke University School of Medicine, Durham, NC; RUCDR/Infinite Biologics (J.C.M.), Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ; Washington University School of Medicine (J.S.P.), St Louis, MO; Department of Neurology (S.E.P.R.), University of New Mexico Health Sciences Center, Albuquerque, NM; Department of Neurology (R.S.-P.), Icahn School of Medicine at Mount Sinai, New York, NY; Coriell Institute for Medical Research (L.S.), Camden, NJ; Department of Neuroscience (R.S.), Baylor College of Medicine, Houston, TX; Harvard Medical School (K.S.), Department of Otolaryngology, Head and Neck Surgery, Massachusetts Eye and Ear Institute, Boston, MA; Department of Neurological Surgery (P.A.S.), University of California San Francisco, San Francisco, CA; Division of Extramural Activities (A.T.), NINDS, NIH, Rockville, MD; and Department of Neurology (J.V.), University of Minnesota, Minneapolis, MN.
Papers in Europe PMC - 09Sillitoe RV4 papers · 2023
Department of Pathology and Immunology, Department of Neuroscience, Program in Developmental Biology, Baylor College of Medicine, and Jan and Dan Duncan Neurological Research Institute of Texas Children's Hospital, 1250 Moursund Street, Suite 1325, Houston Texas 77030, USA.
Papers in Europe PMC - 10Simonyan K4 papers · 2023
From the Division of Clinical Research (C.L.), National Institute of Neurological Disorders and Stroke, National Institutes of Health; Harvard Medical School (L.O., N.S.), Massachusetts General Hospital, Boston, MA; University of Alabama, Birmingham (D.S.), Birmingham, AL; Medical Neurology Branch (M.H.), NINDS, NIH, Bethesda, MD; Division of Neuroscience (B.-A.S., C.S.-F.), NINDS, NIH, Bethesda, MD; Department of Neurology (B.D.B.), University of Colorado Denver, Aurora, CO; Duke University School of Medicine, Durham, NC; RUCDR/Infinite Biologics (J.C.M.), Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ; Washington University School of Medicine (J.S.P.), St Louis, MO; Department of Neurology (S.E.P.R.), University of New Mexico Health Sciences Center, Albuquerque, NM; Department of Neurology (R.S.-P.), Icahn School of Medicine at Mount Sinai, New York, NY; Coriell Institute for Medical Research (L.S.), Camden, NJ; Department of Neuroscience (R.S.), Baylor College of Medicine, Houston, TX; Harvard Medical School (K.S.), Department of Otolaryngology, Head and Neck Surgery, Massachusetts Eye and Ear Institute, Boston, MA; Department of Neurological Surgery (P.A.S.), University of California San Francisco, San Francisco, CA; Division of Extramural Activities (A.T.), NINDS, NIH, Rockville, MD; and Department of Neurology (J.V.), University of Minnesota, Minneapolis, MN.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
high 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.
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 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · 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 (12)
- isrctn·ISRCTN89285040·Recruiting·A European study of non-progressive ataxia in children
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN10664670·No longer recruiting·Investigating 4’PPT for pantothenate kinase associated neurodegeneration (PKAN)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15571700·No longer recruiting·A trial to test the use of deferiprone in people with neuroferritinopathy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN17008820·No longer recruiting·Deep brain stimulation in Tourette syndrome
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN42991002·No longer recruiting·Using brain signals to control functional electrical stimulation during the intention to move a weak arm after a stroke
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN14984258·No longer recruiting·A study to evaluate the safety, tolerability, processing by the body and mechanism of action of multiple doses of ralmitaront with a single dose of risperidone administered to healthy participants
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN31511176·No longer recruiting·A clinical study to assess the influence of acupuncturing “Wang’s Jiaji” acupoints on limb spasticity of patients in convalescent stage of ischemic stroke
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN69044459·No longer recruiting·Exercise therapy intervention for children and young adults with cerebral palsy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN57997252·No longer recruiting·Does the use of a specific cognitive intervention for children with movement disorders improve functional outcomes following deep brain stimulation?
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN58484608·No longer recruiting·Constraint induced movement therapy: A randomised controlled Trial in Children with Hemiplegic cerebral palsy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN97049967·No longer recruiting·Phase 3 long-term safety, tolerability and effectiveness of lurasidone in subjects with schizophrenia or schizoaffective disorder
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN75413193·No longer recruiting·Double-blind randomised placebo-controlled cross-over study to investigate the safety and effectiveness of intrathecal glycine on pain and dystonia in Complex Regional Pain Syndrome type 1
skipped — LLM skipped (--skip-llm)
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 Primary dystonia, DYT21 type — 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.
"Primary dystonia, DYT21 type" OR "DYT21" OR "dystonia 21" OR "dystonia type 21"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary dystonia, DYT21 type" OR "DYT21" OR "dystonia 21" OR "dystonia type 21"
Study-type breakdown: 0 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 2026-07-27T12:50:23.785Z