ORPHA:90120
Hereditary motor and sensory neuropathy type 6
Also known as: CMT6 · Charcot-Marie-Tooth disease type 6 · HMSN 6 · HMSN VI · Hereditary motor and sensory neuropathy type VI · Peripheral neuropathy and optic atrophy
Publications
117
56.2th percentile
Trials
0
Interventional, condition-specific
Researchers
749
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare axonal motor and sensory disease characterized by , peripheral, axonal sensorimotor (of variable severity), affecting predominantly the distal lower limbs, associated with , variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.
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:0019551
- UMLS:C0393807
Additional Mondo synonyms (2)
hereditary motor and sensory neuropathy type 6 · peripheral neuropathy and optic atrophy
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
117 matched papers (58 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 trialPartial
None under the specific name; 1 for broader category hereditary motor and sensory neuropathy
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
117
117 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.
117 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).
58 in the last 10 years · medium confidence · 56.2th percentile (publications denominator)
Phrase hits: 117 · MeSH hits: 0
Who's working on it?
749
Distinct author names in 117 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.
- 01Horvath R5 papers · 2026
Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, U.K. rita.horvath@ncl.ac.uk.
Papers in Europe PMC - 02Reilly MM5 papers · 2024
Department of Molecular Neurosciences, MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Papers in Europe PMC - 03Yu-Wai-Man P5 papers · 2016
Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Papers in Europe PMC - 04Chinnery PF4 papers · 2012Papers in Europe PMC
- 05Choi BO4 papers · 2016
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135‑710, Republic of Korea.
Papers in Europe PMC - 06Lenaers G4 papers · 2022
Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier I et II, BP 74103, F-34091 Montpellier cedex 05, France. guy.lenaers@inserm.fr
Papers in Europe PMC - 07Santorelli FM4 papers · 2025
Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Papers in Europe PMC - 08Züchner S4 papers · 2026
Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10 Ave., Miami, FL 33136, USA. SZuchner@med.miami.edu.
Papers in Europe PMC - 09Carelli V3 papers · 2016
IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
Papers in Europe PMC - 10Chiaramello A3 papers · 2021
Department of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA. Electronic address: achiaram@gwu.edu.
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. 1 trial are registered for hereditary motor and sensory neuropathy, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched hereditary motor and sensory neuropathy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hereditary motor and sensory neuropathy
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
None of the matched observational studies is currently listed as 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 on the overview but are not added to the query string.
"Hereditary motor and sensory neuropathy type 6" OR "Charcot-Marie-Tooth disease type 6" OR "HMSN 6" OR "HMSN VI" OR "Hereditary motor and sensory neuropathy type VI" OR "Peripheral neuropathy and optic atrophy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary motor and sensory neuropathy type 6" OR "Charcot-Marie-Tooth disease type 6" OR "HMSN 6" OR "HMSN VI" OR "Hereditary motor and sensory neuropathy type VI" OR "Peripheral neuropathy and optic atrophy" OR "hereditary peripheral neuropathy"
Recall-expansion terms: hereditary peripheral neuropathy
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hereditary motor and sensory neuropathy"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CMT6
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T03:40:21.647Z