ORPHA:500180
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Also known as: CONDBA
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare genetic neurodegenerative disease characterized by childhood onset of slowly motor and cognitive regression, resulting in and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. , dysarthria, and have also been reported. Head circumference percentiles may decline over time. Brain imaging shows cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.
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.
Is anyone studying this?
24
24 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=183) is 38.
24 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
19 in the last 10 years · high confidence · 40.2th percentile (publications denominator)
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).
high confidence · 65.3th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (UBTF).
GenCC classification: Definitive.
Who's working on it?
145
Distinct author names in 24 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.
- 01LeDoux MS2 papers · 2024
Department of Psychology, University of Memphis, Memphis, TN, United States.
Papers in Europe PMC - 02Abdelghani M1 paper · 2021Papers in Europe PMC
- 03Bae H1 paper · 2025
Veterans Health Service Medical Center, Seoul, Korea, Republic of (South)
Papers in Europe PMC - 04Boutin H1 paper · 2021
Wolfson Molecular Imaging Centre, University of Manchester, UK.
Papers in Europe PMC - 05Br G1 paper · 2024
Department of Radio-Diagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.
Papers in Europe PMC - 06Braden AA1 paper · 2024
Department of Neurology, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38104, USA.
Papers in Europe PMC - 07Brault J1 paper · 2022
Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Papers in Europe PMC - 08Brown C1 paper · 2024
Department of Pediatrics, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Papers in Europe PMC - 09Bugg JM1 paper · 2011
Washington University, Department of Psychology, Campus Box 1125, One Brookings Dr., St.Louis, MO 63130, USA. jbugg@artsci.wustl.edu
Papers in Europe PMC - 10
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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 below but are not added to the query string.
"Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" OR "CONDBA" OR "UBTF-related disorder"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" OR "CONDBA" OR "UBTF-related disorder" OR "UBTF"
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:617672 UMLS:C4540086
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