ORPHA:397735
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Also known as: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation · CMT2U
Clinical definition (Orphanet)
A subtype of Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly , axonal, peripheral sensorimotor resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
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?
35
35 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.
35 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).
30 in the last 10 years · high confidence · 45.4th 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. 42 trials are registered for Charcot-Marie-Tooth disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
42
trials for Charcot-Marie-Tooth disease, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
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 (MARS1).
GenCC classification: Strong.
Who's working on it?
186
Distinct author names in 35 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.
- 01Antonellis A4 papers · 2019
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, United States; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, United States. Electronic address: antonell@umich.edu.
Papers in Europe PMC - 02Meyer-Schuman R3 papers · 2019
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Papers in Europe PMC - 03Chung KW2 papers · 2020
Department of Biological Sciences, Kongju National University, Gongju 32588, Korea.
Papers in Europe PMC - 04Adir V1 paper · 2018
The Human Genetics institute, Carmel Medical Center, Haifa, Israel.
Papers in Europe PMC - 05Bai J1 paper · 2023
Department of Neurosurgery, General Hospital of Ningxia Medical University, Yinchuan, Ningxia, People's Republic of China.
Papers in Europe PMC - 06Beg AA1 paper · 2017
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI, United States.
Papers in Europe PMC - 07Bindu PS1 paper · 2022
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
Papers in Europe PMC - 08Bird TD1 paper · 1993
Seattle VA Medical Center, Departments of Neurology and Medicine, University of Washington, Seattle, Washington
Papers in Europe PMC - 09Boczonadi V1 paper · 2018
Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Papers in Europe PMC - 10Boycott KM1 paper · 2019
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Papers in Europe PMC
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.
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
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.
"Autosomal dominant Charcot-Marie-Tooth disease type 2U" OR "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" OR "CMT2U" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS" OR "MARS Charcot-Marie-Tooth disease type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant Charcot-Marie-Tooth disease type 2U" OR "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" OR "CMT2U" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS" OR "MARS Charcot-Marie-Tooth disease type 2" OR "MARS1" OR "Charcot-Marie-Tooth disease type 2"
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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:616280 UMLS:C4084821
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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