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ORPHA:101150

Autosomal recessive dopa-responsive dystonia

high confidenceDisorder

Also known as: Autosomal recessive Segawa syndrome · DYT5b · Tyrosine hydroxylase deficiency · Tyrosine hydroxylase-deficient dopa-responsive dystonia

Publications

791

84th percentile

Trials

0

Interventional, condition-specific

Researchers

1,101

Distinct authors in sample

Gene link

TH

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to .

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

Dopa-responsive dystonia, autosomal recessive · Segawa syndrome, recessive · autosomal recessive Segawa syndrome · autosomal recessive dopa-responsive dystonia · dopa-responsive dystonia, autosomal recessive · tyrosine hydroxylase-deficient dopa-responsive dystonia

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — TH

  2. LiteraturePresent

    791 matched papers (543 in last 10 years) Source

  3. Phenotype characterisedPresent

    48 HPO annotations (e.g. Delayed speech and language development; Parkinsonism; Hypokinesia) Source

  4. Animal modelPresent

    2 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 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 (TH).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

48

Associated phenotypes · MONDO:0011551

  • Delayed speech and language development
  • Parkinsonism
  • Hypokinesia
  • Abnormality of extrapyramidal motor function
  • Ptosis

Showing 5 of 48 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

791

791 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.

791 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).

543 in the last 10 years · high confidence · 84th percentile (publications denominator)

Phrase hits: 243 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,101

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
    Wevers RA15 papers · 2024

    Institute of Neurology, University Hospital Nijmegen, The Netherlands. R.Wevers@ckslkn.azn.nl

    Papers in Europe PMC
  2. 02
    Hoffmann GF13 papers · 2026

    Department of Pediatrics, University of Heidelberg, Heidelberg, Germany. georg_hoffmann@med.uni-heidelberg.de

    Papers in Europe PMC
  3. 03
    Leuzzi V11 papers · 2025

    Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Pons R11 papers · 2025

    First Department of Pediatrics, Pediatric Neurology Unit, Agia Sofia Hospital, National and Kapodistrian University of Athens, Athens, Greece.

    Papers in Europe PMC
  5. 05
    Artuch R9 papers · 2023

    Clinical biochemistry department, Institut de Recerca Sant Joan de Déu, CIBERER and MetabERN Hospital Sant Joan de Déu, Barcelona, Spain.

    Papers in Europe PMC
  6. 06
    Blau N8 papers · 2026

    Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.

    Papers in Europe PMC
  7. 07
    Martinez A8 papers · 2026

    Department of Biomedicine, University of Bergen, Bergen, Norway.

    Papers in Europe PMC
  8. 08
    Opladen T8 papers · 2026

    Division of Child Neurology and Metabolic Diseases, University Children's Hospital Heidelberg, Germany.

    Papers in Europe PMC
  9. 09
    Carducci C7 papers · 2023

    Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy.

    Papers in Europe PMC
  10. 10
    Kurian MA7 papers · 2025

    Developmental Neurosciences, UCL- Institute of Child Health and Department of Neurology, Great Ormond Street Hospital for Children NHS Foundations Trust, London, United Kingdom.

    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.

high 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.

Broader category dopa-responsive dystonia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: dopa-responsive dystonia

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 2026-07-30

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).

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 Autosomal recessive dopa-responsive 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.

("Autosomal recessive dopa-responsive dystonia" OR "Autosomal recessive Segawa syndrome" OR "DYT5b" OR "Tyrosine hydroxylase deficiency" OR "Tyrosine hydroxylase-deficient dopa-responsive dystonia" OR "Dopa-responsive dystonia, autosomal recessive" OR "Segawa syndrome, recessive") OR ("TH syndrome" OR "TH-related")

Run this search on Europe PMC

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

"Autosomal recessive dopa-responsive dystonia" OR "Autosomal recessive Segawa syndrome" OR "DYT5b" OR "Tyrosine hydroxylase deficiency" OR "Tyrosine hydroxylase-deficient dopa-responsive dystonia" OR "Dopa-responsive dystonia, autosomal recessive" OR "Segawa syndrome, recessive"

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

Parent-category trials query:

"dopa-responsive dystonia"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:21:01.036Z