ORPHA:139518
Distal hereditary motor neuropathy type 1
Also known as: Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1
Publications
42
38.6th percentile
Trials
0
Interventional, condition-specific
Researchers
318
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Distal motor type 1 is a rare neuromuscular disease characterized by slowly- lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008451
- MeSH:C566675
- OMIM:182960
- UMLS:C1866784
- NCIT:C132826
Additional Mondo synonyms (5)
Charcot-Marie-Tooth disease, spinal, I · DHMN1 · autosomal dominant distal juvenile spinal muscular atrophy type 1 · distal hereditary motor neuronopathy type I · neuronopathy, distal hereditary motor, type 1
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
42 matched papers (22 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?
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?
42
42 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.
42 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).
22 in the last 10 years · high confidence · 38.6th percentile (publications denominator)
Phrase hits: 42 · MeSH hits: 0
Who's working on it?
318
Distinct author names in 42 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.
- 01Kennerson ML6 papers · 2024
Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, Sydney, 2139, Australia. marina.kennerson@sydney.edu.au.
Papers in Europe PMC - 02Cutrupi AN5 papers · 2024
Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, Sydney, 2139, Australia.
Papers in Europe PMC - 03Nicholson GA4 papers · 2023
Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, Sydney, 2139, Australia.
Papers in Europe PMC - 04Cortese A3 papers · 2024
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Papers in Europe PMC - 05Houlden H3 papers · 2024
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Papers in Europe PMC - 06Reilly MM3 papers · 2024
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Papers in Europe PMC - 07Boyling A2 papers · 2023
Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.
Papers in Europe PMC - 08Brewer MH2 papers · 2018
Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, Sydney, 2139, Australia.
Papers in Europe PMC - 09Ellis M2 papers · 2023
Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.
Papers in Europe PMC - 10Grosz BR2 papers · 2023
Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.
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. 2 observational studies 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.
Broader category distal hereditary motor neuropathy also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: distal hereditary motor neuropathy
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Observational and natural-history studies
2 observational studies match 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 2026-07-26Likely covered — the policy lists Spinal muscular atrophy as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
"Distal hereditary motor neuropathy type 1" OR "Autosomal dominant distal juvenile spinal muscular atrophy type 1" OR "dHMN1" OR "Charcot-Marie-Tooth disease, spinal, I" OR "distal hereditary motor neuronopathy type I" OR "neuronopathy, distal hereditary motor, type 1"
MeSH descriptor terms unioned into the query: Neuronopathy, Distal Hereditary Motor, Type I
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Distal hereditary motor neuropathy type 1" OR "Autosomal dominant distal juvenile spinal muscular atrophy type 1" OR "dHMN1" OR "Charcot-Marie-Tooth disease, spinal, I" OR "distal hereditary motor neuronopathy type I" OR "neuronopathy, distal hereditary motor, type 1" OR "Neuronopathy, Distal Hereditary Motor, Type I" OR "neuronopathy, distal hereditary motor, autosomal dominant" OR "hereditary peripheral neuropathy"
Recall-expansion terms: neuronopathy, distal hereditary motor, autosomal dominant, hereditary peripheral neuropathy
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"distal hereditary motor neuropathy"
Query health: ok — strategies attempted: phrase, mesh, 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
Ingested 2026-07-27T07:39:40.389Z