ORPHA:420485
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Also known as: DYT24 · Dystonia 24
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
261
77.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,141
Distinct authors in sample
Gene link
ANO3
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014019
- OMIM:615034
- UMLS:C3554374
Additional Mondo synonyms (5)
ANO3 dystonic disorder · DYT-ANO3 · dystonia 24 · dystonia type 24 · dystonic disorder caused by mutation in ANO3
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 — ANO3
- LiteraturePresent
261 matched papers (182 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 (ANO3).
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?
261
261 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.
261 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).
182 in the last 10 years · high confidence · 77.2th percentile (publications denominator)
Phrase hits: 261 · MeSH hits: 0
Who's working on it?
1,141
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.
- 01Klein C8 papers · 2025
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 02Bhatia KP7 papers · 2025
Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London, London, UK.
Papers in Europe PMC - 03Jinnah HA5 papers · 2025
Departments of Neurology, Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Papers in Europe PMC - 04Ozelius LJ5 papers · 2021
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
Papers in Europe PMC - 05Pandey S5 papers · 2025
Maulana Azad Medical College, and Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, New Delhi, India.
Papers in Europe PMC - 06Albanese A4 papers · 2026
Department of Neurology, IRCCS Neurological Institute C. Mondino, Pavia, Italy.
Papers in Europe PMC - 07Erro R4 papers · 2025
Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Neuroscience Section, University of Salerno, Via Allende 43, 84081, Baronissi, SA, Italy. rerro@unisa.it.
Papers in Europe PMC - 08Hallett M4 papers · 2025
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 09Lang AE4 papers · 2025
Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 10Lohmann K4 papers · 2023
Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.
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.
high 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.
"Cranio-cervical dystonia with laryngeal and upper-limb involvement" OR "DYT24" OR "Dystonia 24" OR "ANO3 dystonic disorder" OR "DYT-ANO3" OR "dystonia type 24" OR "dystonic disorder caused by mutation in ANO3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cranio-cervical dystonia with laryngeal and upper-limb involvement" OR "DYT24" OR "Dystonia 24" OR "ANO3 dystonic disorder" OR "DYT-ANO3" OR "dystonia type 24" OR "dystonic disorder caused by mutation in ANO3" OR "ANO3"
Recall-expansion terms: ANO3
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
Ingested 2026-07-27T15:47:08.531Z