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ORPHA:420492

Adult-onset cervical dystonia, DYT23 type

low confidenceDisorder

Also known as: DYT23 · Dystonia 23

Publications

591

Trials

0

Interventional, condition-specific

Researchers

1,080

Distinct authors in sample

Gene link

CIZ1

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, isolated dystonia characterized by adult-onset, non-, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.

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 (2)

dystonia 23 · dystonia type 23

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

    Moderate — CIZ1

  2. LiteraturePresent

    591 matched papers (388 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Torticollis; Head tremor; Axial 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?

Probably — there is moderate evidence for CIZ1.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0013928

  • Torticollis
  • Head tremor
  • Axial dystonia
  • Craniofacial dystonia
  • Limb tremor

Showing 5 of 28 — 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?

591

591 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.

591 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).

388 in the last 10 years · low confidence

Phrase hits: 184 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,080

Distinct author names in 184 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
    Jinnah HA10 papers · 2025

    From the Departments of Neurology (S.P.R., A.R.W., A.D.) and Family and Community Medicine (B.S.), University of New Mexico Health Sciences Center, Albuquerque; and Departments of Neurology, Human Genetics, and Pediatrics (H.A.J.), Emory University School of Medicine, Atlanta, GA.

    Papers in Europe PMC
  2. 02
    Bhatia KP8 papers · 2014
    Papers in Europe PMC
  3. 03
    Jankovic J6 papers · 2025

    Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  4. 04
    Klein C6 papers · 2024

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

    Papers in Europe PMC
  5. 05
    Albanese A5 papers · 2025

    Department of Neurology, Catholic University, Milan, Italy. alberto.albanese@unicatt.it

    Papers in Europe PMC
  6. 06
    LeDoux MS5 papers · 2024

    Department of Neurology, University of Tennessee Health Science Center Memphis, Tennessee 38163, USA.

    Papers in Europe PMC
  7. 07
    Charlesworth G4 papers · 2014

    Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

    Papers in Europe PMC
  8. 08
    Defazio G4 papers · 2025

    Institute of Neurology, University of Bari, Italy.

    Papers in Europe PMC
  9. 09
    Frucht SJ4 papers · 2018

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

    Papers in Europe PMC
  10. 10
    Hallett M4 papers · 2025

    Human Motor Control Section, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, US.

    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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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 (10)

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 Adult-onset cervical dystonia, DYT23 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.

("Adult-onset cervical dystonia, DYT23 type" OR "DYT23" OR "Dystonia 23" OR "dystonia type 23") OR ("CIZ1" OR "CIZ1 syndrome" OR "CIZ1-related")

Run this search on Europe PMC

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

"Adult-onset cervical dystonia, DYT23 type" OR "DYT23" OR "Dystonia 23" OR "dystonia type 23"

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

Ingested 2026-07-27T15:47:18.811Z