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neuronopathy, distal hereditary motor, autosomal recessive 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, autosomal recessive 3

MONDO:0011771

Also known as:autosomal recessive distal spinal muscular atrophy type 3dHMN3 and dHMN4dSMA3

Overview

A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.

GeneticsAutosomal recessive

ResearchLimited published research (1 article)

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: Interosseus muscle atrophy, EMG: neuropathic changes, Distal lower limb muscle weakness, and Distal amyotrophy and 4 more.

Organ System	Phenotype Count	Example Features
Muscles	4	Interosseus muscle atrophy, Distal lower limb muscle weakness, Diaphragmatic weakness

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 recessive 3.

1 publication has been identified in PubMed for neuronopathy, distal hereditary motor, autosomal recessive 3. Research spans Case Report / Case Series (100%).

Recent Publications

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, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607088

Orphanet

European rare disease database

Orphanet:139547

GARD

Genetic and Rare Diseases Info Center

GARD:16956

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neuronopathy, distal hereditary motor, autosomal recessive 3

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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