ORPHA:508093
MEPAN syndrome
Also known as: Autosomal recessive childhood-onset dystonia, DYT29 type · Childhood-onset generalized dystonia-optic atrophy syndrome · DYT29 · Dystonia 29 · Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
127
64.2th percentile
Trials
0
Interventional, condition-specific
Researchers
763
Distinct authors in sample
Gene link
MECR
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.
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:0015003
- OMIM:617282
- UMLS:C4310634
Additional Mondo synonyms (3)
DYTOABG · dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities · dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG
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 — MECR
- LiteraturePresent
127 matched papers (88 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 (MECR).
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?
127
127 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.
127 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).
88 in the last 10 years · medium confidence · 64.2th percentile (publications denominator)
Phrase hits: 127 · MeSH hits: 0
Who's working on it?
763
Distinct author names in 127 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.
- 01Albanese A4 papers · 2026
Department of Neurology IRCCS Humanitas Research Hospital Rozzano Italy.
Papers in Europe PMC - 02
- 03Jinnah HA4 papers · 2026
Departments of Neurology, Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Papers in Europe PMC - 04Sharma N4 papers · 2023
Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA.
Papers in Europe PMC - 05Hallett M3 papers · 2026
Human Motor Control Section, NINDS, NIH, Building 10, Room 7D37, 10 Center Dr MSC 1428, Bethesda, MD, 20892-1428, USA.
Papers in Europe PMC - 06Kaji R3 papers · 2022
Department of Clinical Neuroscience, Graduate School of Medicine, Tokushima University, Tokushima 770-8503, Japan.
Papers in Europe PMC - 07Nowinski SM3 papers · 2025
Department of Biochemistry, Salt Lake City, United States.
Papers in Europe PMC - 08Stephen CD3 papers · 2023
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
Papers in Europe PMC - 09Wang L3 papers · 2025
Department of Genetics and Biochemistry, College of Science, Clemson University, Clemson, SC 29634, USA.
Papers in Europe PMC - 10Abbruzzese G2 papers · 1999Papers 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.
"MEPAN syndrome" OR "Autosomal recessive childhood-onset dystonia, DYT29 type" OR "Childhood-onset generalized dystonia-optic atrophy syndrome" OR "DYT29" OR "Dystonia 29" OR "Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome" OR "DYTOABG" OR "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" OR "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"MEPAN syndrome" OR "Autosomal recessive childhood-onset dystonia, DYT29 type" OR "Childhood-onset generalized dystonia-optic atrophy syndrome" OR "DYT29" OR "Dystonia 29" OR "Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome" OR "DYTOABG" OR "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" OR "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG" OR "MECR"
Recall-expansion terms: MECR
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
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 2026-07-27T17:56:06.039Z