ORPHA:163684
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
13
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
83
Distinct authors in sample
Gene link
SCP2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Leukoencephalopathy-dystonia-motor syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory .
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:0013391
- OMIM:613724
- UMLS:C3150990
Additional Mondo synonyms (3)
SCP2 deficiency · leukoencephalopathy-dystonia-motor neuropathy syndrome · sterol carrier protein 2 deficiency
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 — SCP2
- LiteraturePresent
13 matched papers (7 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 (SCP2).
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?
13
13 papers have ever been indexed 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.
13 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).
7 in the last 10 years · high confidence · 23.5th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
83
Distinct author names in 13 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.
- 01Ghosh S2 papers · 2018
Department of Internal Medicine, Virginia Commonwealth University Medical Center, Richmond, VA 23298 shobha@vcu.edu.
Papers in Europe PMC - 02Wang J2 papers · 2018
Department of Internal Medicine, Virginia Commonwealth University Medical Center, Richmond, VA 23298.
Papers in Europe PMC - 03Aaseth JO1 paper · 2022
Research Department, Innlandet Hospital Trust, P.O. Box 104, 2381 Brumunddal, Norway.
Papers in Europe PMC - 04
- 05Alexander J1 paper · 2022
Department of Environmental Health, Division of Climate and Health, Norwegian Institute of Public Health, P.O. Box 222, Skøyen, 0213 Oslo, Norway.
Papers in Europe PMC - 06
- 07Baudet H1 paper · 2023
Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
Papers in Europe PMC - 08Bernard G1 paper · 2015
Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
Papers in Europe PMC - 09Bertini E1 paper · 2013Papers in Europe PMC
- 10Bie J1 paper · 2016
Department of Internal Medicine, Virginia Commonwealth University Medical Center, Richmond, VA 23298.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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
- NCT01668186·RECRUITING·Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Conditions: Peroxisome Biogenesis Disorder · Zellweger Spectrum Disorder · RCDP - Rhizomelic Chondrodysplasia Punctata · D-Bifunctional Protein Deficiency·Matched via name phrase
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.
"Leukoencephalopathy-dystonia-motor neuropathy syndrome" OR "SCP2 deficiency" OR "sterol carrier protein 2 deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Leukoencephalopathy-dystonia-motor neuropathy syndrome" OR "SCP2 deficiency" OR "sterol carrier protein 2 deficiency" OR "SCP2"
Recall-expansion terms: SCP2
Study-type breakdown: 0 interventional · 1 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T08:10:42.457Z