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ORPHA:210571

Dystonia 16

low confidenceDisorder

Also known as: DYT16 · Early-onset dystonia parkinsonism

Publications

11,988

Trials

0

Interventional, condition-specific

Researchers

1,288

Distinct authors in sample

Gene link

PRKRA

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

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 (6)

DYT-PRKRA · PRKRA dystonic disorder · dystonia 16 · dystonia type 16 · dystonic disorder caused by mutation in PRKRA · early-onset dystonia parkinsonism

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

    Strong — PRKRA

  2. LiteraturePresent

    11,988 matched papers (6,195 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Limb dystonia; Torticollis; Parkinsonism) 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 (PRKRA).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

36

Associated phenotypes · MONDO:0012789

  • Limb dystonia
  • Torticollis
  • Parkinsonism
  • Bradykinesia
  • Postural tremor

Showing 5 of 36 — 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?

11,988

11,988 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

11,988 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).

6,195 in the last 10 years · low confidence

Phrase hits: 454 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

1,288

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
    Klein C9 papers · 2021

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

    Papers in Europe PMC
  2. 02
    Lohmann K8 papers · 2022

    Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.

    Papers in Europe PMC
  3. 03
    Patel RC8 papers · 2025

    From the University of South Carolina, Department of Biological Sciences, Columbia, South Carolina 29208, patelr@biol.sc.edu.

    Papers in Europe PMC
  4. 04
    Sharma N7 papers · 2023

    Functional Neurological Disorder Research Program, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States.

    Papers in Europe PMC
  5. 05
    Zech M7 papers · 2026

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

    Papers in Europe PMC
  6. 06
    Barbosa ER6 papers · 2025

    Movement Disorders Center, Department of Neurology, School of Medicine University of São Paulo São Paulo Brazil.

    Papers in Europe PMC
  7. 07
    Cury RG6 papers · 2025

    Movement Disorders Center, Department of Neurology, School of Medicine University of São Paulo São Paulo Brazil.

    Papers in Europe PMC
  8. 08
    Bhatia KP5 papers · 2022

    Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London United Kingdom.

    Papers in Europe PMC
  9. 09
    Burnett SB5 papers · 2024

    Department of Biological Sciences University of South Carolina, University of South Carolina, Columbia, South Carolina.

    Papers in Europe PMC
  10. 10
    Camargos S5 papers · 2022

    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, 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 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 21 · after dedupe 21 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 21 · 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 (21)

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 16 — 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 16" OR "DYT16" OR "Early-onset dystonia parkinsonism" OR "DYT-PRKRA" OR "PRKRA dystonic disorder" OR "dystonia type 16" OR "dystonic disorder caused by mutation in PRKRA") OR (MESH:"Dystonia 16") OR ("PRKRA" OR "PRKRA syndrome" OR "PRKRA-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Dystonia 16

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

"Dystonia 16" OR "DYT16" OR "Early-onset dystonia parkinsonism" OR "DYT-PRKRA" OR "PRKRA dystonic disorder" OR "dystonia type 16" OR "dystonic disorder caused by mutation in PRKRA"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (11988) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T09:31:50.687Z