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neuronopathy, distal hereditary motor, autosomal dominant 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, autosomal dominant 1

MONDO:0008451

Also known as:Charcot-Marie-Tooth disease, spinal, IDHMN1autosomal dominant distal juvenile spinal muscular atrophy type 1

Overview

An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.

GeneticsAutosomal dominant

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Upper limb muscle weakness. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Babinski sign, Chronic axonal neuropathy
Muscles

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neuronopathy, distal hereditary motor, autosomal dominant 1.

2 publications have been identified in PubMed for neuronopathy, distal hereditary motor, autosomal dominant 1. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Pasutharnchat N (2025). [PMID: 39395070](https://pubmed.ncbi.nlm.nih.gov/39395070/). *Neurol Sci*. [Review / Meta-Analysis]
Davion JB (2024). [PMID: 39553548](https://pubmed.ncbi.nlm.nih.gov/39553548/). *Heliyon*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:182960

Orphanet

European rare disease database

Orphanet:139518

GARD

Genetic and Rare Diseases Info Center

GARD:16953

Questions for Your Care Team

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neuronopathy, distal hereditary motor, autosomal dominant 1

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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