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ORPHA:329466

Autosomal dominant focal dystonia, DYT25 type

low confidenceDisorder

Also known as: DYT25 · Dystonia 25

Publications

2,800

Trials

0

Interventional, condition-specific

Researchers

1,258

Distinct authors in sample

Gene link

GNAL

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of focal dystonia characterized by cervical, laryngeal and hand-forearm 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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

GNAL dystonic disorder · dystonia 25 · dystonia type 25 · dystonic disorder caused by mutation in GNAL

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.

  1. Gene identifiedPresent

    Definitive — GNAL

  2. LiteraturePresent

    2,800 matched papers (1,787 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Laryngeal dystonia; Craniofacial dystonia; Lingual dystonia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (GNAL).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0014033

  • Laryngeal dystonia
  • Craniofacial dystonia
  • Lingual dystonia
  • Focal 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?

2,800

2,800 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.

2,800 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).

1,787 in the last 10 years · low confidence

Phrase hits: 318 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,258

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.

  1. 01
    Simonyan K20 papers · 2024

    Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    Papers in Europe PMC
  2. 02
    Ozelius LJ12 papers · 2024

    Department of Genetics and Genomic Sciences, Department of Neurology.

    Papers in Europe PMC
  3. 03
    Frucht SJ9 papers · 2019

    Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, USA.

    Papers in Europe PMC
  4. 04
    Pisani A8 papers · 2023

    Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.

    Papers in Europe PMC
  5. 05
    Bonsi P7 papers · 2023

    IRCCS Fondazione Santa Lucia, 00179 Rome, Italy.

    Papers in Europe PMC
  6. 06
    Jinnah HA7 papers · 2024

    From the Cognitive Neuroscience Unit (D.T.C., J.M.-H., G.M., E.Y.), School of Psychology, Deakin University, Geelong, Australia; Center for Brain Circuit Therapeutics (D.T.C., M.D.F., J.J.), Brigham and Women's Hospital, Boston, MA; Deakin University (C.G.), Centre for Social and Early Emotional Development, School of Psychology, Faculty of Health, Geelong, Australia; Murdoch Children's Research Institute (C.G.), Centre for Adolescent Health, Melbourne, Australia; Turku Brain and Mind Center (J.P., J.J.), Clinical Neurosciences, University of Turku, Finland; Departments of Neurology and Human Genetics (H.J.), Emory University, School of Medicine, Atlanta, GA; Department of Neurology (M.D.F.), Harvard Medical School, Boston, MA; and Turku PET Centre (J.J.), Neurocenter, Turku University Hospital, Finland.

    Papers in Europe PMC
  7. 07
    Blitzer A6 papers · 2021

    Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, USA ; Head and Neck Surgical Group, New York, USA.

    Papers in Europe PMC
  8. 08
    Lohmann K6 papers · 2026

    Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

    Papers in Europe PMC
  9. 09
    Martella G6 papers · 2023

    Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.

    Papers in Europe PMC
  10. 10
    Battistella G5 papers · 2023

    Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, 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 13 · after dedupe 13 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 13 · 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 (13)

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 Autosomal dominant focal dystonia, DYT25 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.

("Autosomal dominant focal dystonia, DYT25 type" OR "DYT25" OR "Dystonia 25" OR "GNAL dystonic disorder" OR "dystonia type 25" OR "dystonic disorder caused by mutation in GNAL") OR ("GNAL" OR "GNAL syndrome" OR "GNAL-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal dominant focal dystonia, DYT25 type" OR "DYT25" OR "Dystonia 25" OR "GNAL dystonic disorder" OR "dystonia type 25" OR "dystonic disorder caused by mutation in GNAL"

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
  • Publication count (2800) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:53:31.812Z