ORPHA:98806
Primary dystonia, DYT6 type
Also known as: DYT6 · Generalized cervical and upper-limb-onset dystonia · Idiopathic torsion dystonia of mixed type
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
119
68.5th percentile
Trials
0
Interventional, condition-specific
Researchers
855
Distinct authors in sample
Gene link
THAP1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic movement disorder characterized by dystonia affecting at first an upper limb, less frequently beginning in the head and neck region, before slowly spreading to other locations. The clinical spectrum, like age of onset, is variable with focal, segmental, or generalized distribution, but cranial involvement with speech difficulties and cervical involvement are typical, whereas lower limbs are often spared. With progression of the disease, many patients suffer from generalized dystonia while mostly remaining ambulatory.
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:0011264
- MeSH:C538003
- OMIM:602629
- UMLS:C1414216
- NCIT:C156361
Additional Mondo synonyms (9)
DYT-THAP1 · THAP1 generalised isolated dystonia · THAP1 generalized isolated dystonia · generalised cervical and upper-limb-onset dystonia · generalised isolated dystonia caused by mutation in THAP1 · generalized cervical and upper-limb-onset dystonia · generalized isolated dystonia caused by mutation in THAP1 · idiopathic torsion dystonia of mixed type · torsion dystonia type 6
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
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 — THAP1
- LiteraturePresent
119 matched papers (113 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (THAP1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
119
119 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=5449) is 41.
119 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
113 in the last 10 years · medium confidence · 68.5th percentile (publications denominator)
Phrase hits: 119 · MeSH hits: 0
Who's working on it?
855
Distinct author names in 119 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.
- 01Lohmann K12 papers · 2026
Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Papers in Europe PMC - 02Klein C8 papers · 2026
Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany. christine.klein@neuro.uni-luebeck.de.
Papers in Europe PMC - 03Barbosa ER6 papers · 2025
From the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Papers in Europe PMC - 04Cury RG6 papers · 2025
Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 05Sharma N6 papers · 2023
Dystonia Center and Movement Disorders Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 06Bhatia KP5 papers · 2026
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Papers in Europe PMC - 07Casagrande SCB5 papers · 2025
Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 08Listik C5 papers · 2025
Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 09Münchau A5 papers · 2024
Department of Paediatric and Adult Movement Disorders and Neuropsychiatry Institute of Neurogenetics University of Lübeck Lübeck Germany.
Papers in Europe PMC - 10Stephen CD5 papers · 2024
Dystonia Center and Movement Disorders Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 on the overview but are not added to the query string.
"Primary dystonia, DYT6 type" OR "Generalized cervical and upper-limb-onset dystonia" OR "Idiopathic torsion dystonia of mixed type" OR "Idiopathic torsion dystonia of the mixed type" OR "DYT-THAP1" OR "THAP1 generalised isolated dystonia" OR "THAP1 generalized isolated dystonia" OR "generalised cervical and upper-limb-onset dystonia" OR "generalised isolated dystonia caused by mutation in THAP1" OR "generalized isolated dystonia caused by mutation in THAP1" OR "torsion dystonia type 6"
MeSH descriptor terms unioned into the query: Dystonia 6, torsion
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary dystonia, DYT6 type" OR "Generalized cervical and upper-limb-onset dystonia" OR "Idiopathic torsion dystonia of mixed type" OR "Idiopathic torsion dystonia of the mixed type" OR "DYT-THAP1" OR "THAP1 generalised isolated dystonia" OR "THAP1 generalized isolated dystonia" OR "generalised cervical and upper-limb-onset dystonia" OR "generalised isolated dystonia caused by mutation in THAP1" OR "generalized isolated dystonia caused by mutation in THAP1" OR "torsion dystonia type 6" OR "Dystonia 6, torsion" OR "THAP1"
Recall-expansion terms: THAP1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: DYT6
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
Ingested 2026-07-27T05:24:57.102Z