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ORPHA:98806

Primary dystonia, DYT6 type

low confidenceDisorder

Also known as: DYT6 · Generalized cervical and upper-limb-onset dystonia · Idiopathic torsion dystonia of mixed type

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

995

Trials

0

Interventional, condition-specific

Researchers

855

Distinct authors in sample

Gene link

THAP1

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — THAP1

  2. LiteraturePresent

    995 matched papers (672 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Limb dystonia; Blepharospasm; Laryngeal dystonia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  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 (THAP1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

19

Associated phenotypes · MONDO:0011264

  • Limb dystonia
  • Blepharospasm
  • Laryngeal dystonia
  • Dystonia
  • Generalized dystonia

Showing 5 of 19 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

995

995 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.

995 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).

672 in the last 10 years · low confidence

Phrase hits: 119 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Lohmann K12 papers · 2026

    Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.

    Papers in Europe PMC
  2. 02
    Klein 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
  3. 03
    Barbosa 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
  4. 04
    Cury RG6 papers · 2025

    Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.

    Papers in Europe PMC
  5. 05
    Sharma 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
  6. 06
    Bhatia KP5 papers · 2026

    Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.

    Papers in Europe PMC
  7. 07
    Casagrande SCB5 papers · 2025

    Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.

    Papers in Europe PMC
  8. 08
    Listik C5 papers · 2025

    Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.

    Papers in Europe PMC
  9. 09
    Münchau A5 papers · 2024

    Department of Paediatric and Adult Movement Disorders and Neuropsychiatry Institute of Neurogenetics University of Lübeck Lübeck Germany.

    Papers in Europe PMC
  10. 10
    Stephen 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 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.

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

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, DYT6 type — 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.

("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 (MESH:"Dystonia 6, torsion") OR ("THAP1" OR "THAP1 syndrome" OR "THAP1-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 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: 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
  • Publication count (995) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:24:57.102Z