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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

3,437

88.8th percentile

Trials

2

Interventional, condition-specific

Researchers

1,300

Distinct authors in sample

Gene link

TOR1A

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — TOR1A

  2. LiteraturePresent

    3,437 matched papers (1,304 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Torsion dystonia; Facial palsy; Hyperlordosis) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

31

Associated phenotypes · MONDO:0007492

  • Torsion dystonia
  • Facial palsy
  • Hyperlordosis
  • Dysphagia
  • Blepharospasm

Showing 5 of 31 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

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?

3,437

3,437 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.

3,437 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).

1,304 in the last 10 years · medium confidence · 88.8th 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th 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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Early-onset generalized limb-onset dystonia — 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.

("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" OR "TOR1A syndrome" OR "TOR1A-related")

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"

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 · 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

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