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ORPHA:256

Early-onset generalized limb-onset dystonia

medium confidenceDisorder

Also known as: Dystonia musculorum deformans · EOTD · Early-onset generalized torsion dystonia · Early-onset isolated dystonia · Early-onset primary dystonia · Early-onset torsion dystonia · Idiopathic torsion dystonia · Oppenheim dystonia

Publications

2,642

92.5th percentile

Trials

2

Interventional, condition-specific

Researchers

1,300

Distinct authors in sample

Gene link

TOR1A

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by involvement of other limbs and the trunk, typically sparing the cranial and cervical region.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (14)

DYT-TOR1A · DYT1 · Oppenheim's dystonia · dystonia musculorum deformans · dystonia-1, torsion · early onset primary dystonia · early onset torsion dystonia · early-onset generalised torsion dystonia · early-onset generalized limb-onset dystonia · early-onset generalized torsion dystonia · early-onset primary dystonia · early-onset torsion dystonia · idiopathic dystonia · torsion dystonia type 1

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — TOR1A

  2. LiteraturePresent

    2,642 matched papers (809 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (TOR1A).

GenCC classification: Definitive.

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?

2,642

2,642 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=5449) is 41.

2,642 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).

809 in the last 10 years · medium confidence · 92.5th percentile (publications denominator)

Phrase hits: 2,642 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,300

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Pisani A12 papers · 2026

    Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia and Department of Systems Medicine, University Tor Vergata, Rome, Italy.

    Papers in Europe PMC
  2. 02
    Calakos N8 papers · 2025

    Department of Neurology, Duke University Medical Center, Durham, NC 27715, USA. nicole.calakos@duke.edu.

    Papers in Europe PMC
  3. 03
    Albanese A7 papers · 2026

    Department of Neurology, Istituto di Ricovero e Cura a Carattere Scientifico Humanitas Research Hospital, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Zech M7 papers · 2025

    Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

    Papers in Europe PMC
  5. 05
    Caffall ZF6 papers · 2024

    Department of Neurology, Duke University Medical Center, Durham, NC 27715, USA.

    Papers in Europe PMC
  6. 06
    Klein C6 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Li Y6 papers · 2026

    Norman Fixel Institute for Neurological Diseases, Department of Neurology, University of Florida, Gainesville, FL, USA.

    Papers in Europe PMC
  8. 08
    Bonsi P5 papers · 2024

    Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Castagna A5 papers · 2026

    IRCCS Don Gnocchi Foundation, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Cury RG5 papers · 2025

    Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Early-onset generalized limb-onset dystonia" OR "Dystonia musculorum deformans" OR "Early-onset generalized torsion dystonia" OR "Early-onset isolated dystonia" OR "Early-onset primary dystonia" OR "Early-onset torsion dystonia" OR "Idiopathic torsion dystonia" OR "Oppenheim dystonia" OR "DYT-TOR1A" OR "Oppenheim's dystonia" OR "dystonia-1, torsion" OR "early onset primary dystonia" OR "early onset torsion dystonia" OR "early-onset generalised torsion dystonia" OR "idiopathic dystonia" OR "torsion dystonia type 1"

Run this search on Europe PMC

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

"Early-onset generalized limb-onset dystonia" OR "Dystonia musculorum deformans" OR "Early-onset generalized torsion dystonia" OR "Early-onset isolated dystonia" OR "Early-onset primary dystonia" OR "Early-onset torsion dystonia" OR "Idiopathic torsion dystonia" OR "Oppenheim dystonia" OR "DYT-TOR1A" OR "Oppenheim's dystonia" OR "dystonia-1, torsion" OR "early onset primary dystonia" OR "early onset torsion dystonia" OR "early-onset generalised torsion dystonia" OR "idiopathic dystonia" OR "torsion dystonia type 1" OR "TOR1A"

Recall-expansion terms: TOR1A

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EOTD; DYT1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:05:51.286Z