ORPHA:98805
Primary dystonia, DYT4 type
Also known as: DYT4 · Hereditary whispering dysphonia
Publications
87
52th percentile
Trials
2
Interventional, condition-specific
Researchers
547
Distinct authors in sample
Gene link
TUBB4A
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic dystonia characterized predominantly by laryngeal dystonia/spasmodic dysphonia, mostly followed by cervical and generalized dystonia. Upper and lower limb dystonia, with the latter leading to a "hobby horse" gait (with toe walking, stiff legs, and a skipping gait), craniofacial and/or oro-pharyngeal dystonia have been reported in some patients. Severity and rate of progression vary among affected individuals ; some patients may have laryngeal or cervical dystonia as a life-long isolated feature, however most patients present with dystonia in other body sites.
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:0007493
- OMIM:128101
- UMLS:C1851943
Additional Mondo synonyms (3)
hereditary whispering dysphonia · torsion dystonia type 4 · whispering dysphonia
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — TUBB4A
- LiteraturePresent
87 matched papers (46 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 trialPresent
2 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (TUBB4A).
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?
87
87 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.
87 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).
46 in the last 10 years · medium confidence · 52th percentile (publications denominator)
Phrase hits: 87 · MeSH hits: 0
Who's working on it?
547
Distinct author names in 87 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01van der Knaap MS9 papers · 2025
Department of Pediatrics/Child Neurology, VU University Medical Centre, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Papers in Europe PMC - 02Ozelius LJ8 papers · 2022
Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, One Gustave L Levy Pl, Box 1498 New York, NY 10029, USA. laurie.ozelius@mssm.edu
Papers in Europe PMC - 03Vanderver A8 papers · 2023
2 Centre for Genetic Medicine Research, Children's National Medical Centre, 111 Michigan Avenue, DC 20010 Washington, USA.
Papers in Europe PMC - 04Klein C6 papers · 2025
Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Papers in Europe PMC - 05Wolf NI6 papers · 2025
1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.
Papers in Europe PMC - 06Bertini E5 papers · 2025
From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada.
Papers in Europe PMC - 07Bhatia KP5 papers · 2021
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology University College London London United Kingdom.
Papers in Europe PMC - 08Kumar KR5 papers · 2021
Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney, Sydney, NSW, Australia.
Papers in Europe PMC - 09Simons C5 papers · 2025
9 Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland 4072, Australia.
Papers in Europe PMC - 10LeDoux MS4 papers · 2014
Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06369974·ENROLLING BY INVITATION·Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy
Conditions: Genetic Disease·Matched via recall expansion
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT03047369·RECRUITING·The Myelin Disorders Biorepository Project
Conditions: Leukodystrophy · White Matter Disease · Leukoencephalopathies · 4H Syndrome·Matched via recall expansion
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, DYT4 type" OR "Hereditary whispering dysphonia" OR "torsion dystonia type 4" OR "whispering dysphonia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary dystonia, DYT4 type" OR "Hereditary whispering dysphonia" OR "torsion dystonia type 4" OR "whispering dysphonia" OR "TUBB4A"
Recall-expansion terms: TUBB4A
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: DYT4
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 2026-07-27T05:24:44.661Z