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ORPHA:589618

Dystonia 28

low confidenceDisorder

Also known as: DYT28 · KMT2B-related dystonia

Publications

1,932

Trials

0

Interventional, condition-specific

Researchers

1,766

Distinct authors in sample

Gene link

KMT2B

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare persistent combined dystonia characterized by childhood onset of dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable and , as well as mild microcephaly, short stature, abnormal eye movements, and slightly facial features have been reported in association.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

KMT2B dystonic disorder · dystonia 28, childhood-onset · dystonia 28, childhood-onset; DYT28 · dystonic disorder caused by mutation in KMT2B

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 — KMT2B

  2. LiteraturePresent

    1,932 matched papers (1,761 in last 10 years) Source

  3. Phenotype characterisedPresent

    51 HPO annotations (e.g. Generalized dystonia; Globus pallidus hypointensity on susceptibility-weighted imaging; Microcephaly) 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 (KMT2B).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

51

Associated phenotypes · MONDO:0015004

  • Generalized dystonia
  • Globus pallidus hypointensity on susceptibility-weighted imaging
  • Microcephaly
  • Torticollis
  • Intellectual disability

Showing 5 of 51 — 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?

1,932

1,932 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.

1,932 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).

1,761 in the last 10 years · low confidence

Phrase hits: 252 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,766

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
    Sadikovic B13 papers · 2025

    Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.

    Papers in Europe PMC
  2. 02
    Zech M10 papers · 2026

    Institute of Neurogenomics,Helmholtz Munich, 85764, Neuherberg, Germany.

    Papers in Europe PMC
  3. 03
    McConkey H8 papers · 2025

    Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.

    Papers in Europe PMC
  4. 04
    Tartaglia M7 papers · 2024

    Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.

    Papers in Europe PMC
  5. 05
    Boesch S6 papers · 2026

    Department of Neurology, Medizinische Universität, 6020, Insbruck, Austria.

    Papers in Europe PMC
  6. 06
    Ciolfi A6 papers · 2024

    Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

    Papers in Europe PMC
  7. 07
    Haghshenas S6 papers · 2024

    Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.

    Papers in Europe PMC
  8. 08
    Kerkhof J6 papers · 2024

    Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.

    Papers in Europe PMC
  9. 09
    Kurian MA6 papers · 2023

    Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital, London, UK. Electronic address: manju.kurian@ucl.ac.uk.

    Papers in Europe PMC
  10. 10
    Levy MA6 papers · 2025

    Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.

    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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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 (9)

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 Dystonia 28 — 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.

("Dystonia 28" OR "DYT28" OR "KMT2B-related dystonia" OR "KMT2B dystonic disorder" OR "dystonia 28, childhood-onset" OR "dystonia 28, childhood-onset; DYT28" OR "dystonic disorder caused by mutation in KMT2B") OR ("KMT2B" OR "KMT2B syndrome" OR "KMT2B-related")

Run this search on Europe PMC

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

"Dystonia 28" OR "DYT28" OR "KMT2B-related dystonia" OR "KMT2B dystonic disorder" OR "dystonia 28, childhood-onset" OR "dystonia 28, childhood-onset; DYT28" OR "dystonic disorder caused by mutation in KMT2B"

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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1932) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T18:46:43.809Z