ORPHA:329466
Autosomal dominant focal dystonia, DYT25 type
Also known as: DYT25 · Dystonia 25
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
318
80th percentile
Trials
0
Interventional, condition-specific
Researchers
1,258
Distinct authors in sample
Gene link
GNAL
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014033
- OMIM:615073
- UMLS:C4304670
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.”
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
Definitive — GNAL
- LiteraturePresent
318 matched papers (218 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 (GNAL).
GenCC classification: Definitive.
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?
318
318 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.
318 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).
218 in the last 10 years · medium confidence · 80th percentile (publications denominator)
Phrase hits: 318 · MeSH hits: 0
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.
- 01Simonyan K20 papers · 2024
Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Papers in Europe PMC - 02Ozelius LJ12 papers · 2024
Department of Genetics and Genomic Sciences, Department of Neurology.
Papers in Europe PMC - 03Frucht SJ9 papers · 2019
Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, USA.
Papers in Europe PMC - 04Pisani A8 papers · 2023
Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
Papers in Europe PMC - 05
- 06Jinnah 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 - 07Blitzer 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 - 08Lohmann K6 papers · 2026
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 09Martella G6 papers · 2023
Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.
Papers in Europe PMC - 10Battistella 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 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.
"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"
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" OR "GNAL"
Recall-expansion terms: GNAL
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 (318) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T13:53:31.812Z