ORPHA:101150
Autosomal recessive dopa-responsive dystonia
Also known as: Autosomal recessive Segawa syndrome · DYT5b · Tyrosine hydroxylase deficiency · Tyrosine hydroxylase-deficient dopa-responsive dystonia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
243
74.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,101
Distinct authors in sample
Gene link
TH
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011551
- OMIM:605407
- UMLS:C2673535
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.”
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
Definitive — TH
- LiteraturePresent
243 matched papers (151 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 (TH).
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?
243
243 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.
243 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).
151 in the last 10 years · high confidence · 74.1th percentile (publications denominator)
Phrase hits: 243 · MeSH hits: 0
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.
- 01Wevers RA15 papers · 2024
Institute of Neurology, University Hospital Nijmegen, The Netherlands. R.Wevers@ckslkn.azn.nl
Papers in Europe PMC - 02Hoffmann GF13 papers · 2026
Department of Pediatrics, University of Heidelberg, Heidelberg, Germany. georg_hoffmann@med.uni-heidelberg.de
Papers in Europe PMC - 03Leuzzi V11 papers · 2025
Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Papers in Europe PMC - 04Pons 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 - 05Artuch 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 - 06Blau N8 papers · 2026
Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
Papers in Europe PMC - 07Martinez A8 papers · 2026
Department of Biomedicine, University of Bergen, Bergen, Norway.
Papers in Europe PMC - 08Opladen T8 papers · 2026
Division of Child Neurology and Metabolic Diseases, University Children's Hospital Heidelberg, Germany.
Papers in Europe PMC - 09Carducci C7 papers · 2023
Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy.
Papers in Europe PMC - 10Kurian 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 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.
high 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.
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.
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.
"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"
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" OR "TH" OR "autosomal genetic disease"
Recall-expansion terms: TH, autosomal genetic disease
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: suspect — strategies attempted: phrase, recall-expansion; 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