ORPHA:210571
Dystonia 16
Also known as: DYT16 · Early-onset dystonia parkinsonism
Publications
454
85.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,288
Distinct authors in sample
Gene link
PRKRA
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012789
- MeSH:C567430
- OMIM:612067
- UMLS:C2677567
- NCIT:C168729
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.”
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 — PRKRA
- LiteraturePresent
454 matched papers (304 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 (PRKRA).
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?
454
454 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.
454 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).
304 in the last 10 years · medium confidence · 85.1th percentile (publications denominator)
Phrase hits: 454 · MeSH hits: 4
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.
- 01Klein C9 papers · 2021
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 02Lohmann K8 papers · 2022
Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Papers in Europe PMC - 03Patel 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 - 04Sharma 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 - 05Zech M7 papers · 2026
Helmholtz Centre Munich, Institute of Neurogenomics, Neuherberg, Germany.
Papers in Europe PMC - 06Barbosa ER6 papers · 2025
Movement Disorders Center, Department of Neurology, School of Medicine University of São Paulo São Paulo Brazil.
Papers in Europe PMC - 07Cury RG6 papers · 2025
Movement Disorders Center, Department of Neurology, School of Medicine University of São Paulo São Paulo Brazil.
Papers in Europe PMC - 08Bhatia KP5 papers · 2022
Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London United Kingdom.
Papers in Europe PMC - 09Burnett SB5 papers · 2024
Department of Biological Sciences University of South Carolina, University of South Carolina, Columbia, South Carolina.
Papers in Europe PMC - 10Camargos 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 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.
medium 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.
"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"
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" OR "PRKRA"
Recall-expansion terms: 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, recall-expansion; 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
Ingested 2026-07-27T09:31:50.687Z