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neuronopathy, distal hereditary motor, autosomal recessive 4 (DSMA4) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include: Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, EMG: neuropathic changes, and Talipes equinovarus and 12 more.

Organ System	Phenotype Count	Example Features
Muscles	6	Difficulty climbing stairs, Distal muscle weakness, Joint contracture of the hand
Brain and nerves	3	EMG: neuropathic changes, Difficulty walking (gait disturbance), Waddling gait
Bones and joints	3	Sideways curvature of the spine (scoliosis), Joint contracture of the hand, Excessive inward curvature of the lower spine (hyperlordosis)
Arms and legs	1	Joint contracture of the hand
Lungs and breathing	1	Difficulty breathing due to muscle weakness (respiratory insufficiency due to muscle weakness)

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 4.

19 publications have been identified in PubMed for neuronopathy, distal hereditary motor, autosomal recessive 4. Research spans Case Report / Case Series (42%), Diagnostic / Biomarker (21%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Patient case studies	8	42%
Testing and diagnosis research	4	21%
Disease patterns and progression	4	21%
Laboratory research	2	11%
New treatment approaches	1	5%

Recent Publications

Koyutourk B (2026). [PMID: 42065819](https://pubmed.ncbi.nlm.nih.gov/42065819/). *J Community Genet*. [Epidemiology / Natural History]
Nawaz RN (2026). [PMID: 42071833](https://pubmed.ncbi.nlm.nih.gov/42071833/). *Medicine (Baltimore)*. [Case Report / Case Series]
Saini L (2026). [PMID: 42175818](https://pubmed.ncbi.nlm.nih.gov/42175818/). *J Child Neurol*. [Case Report / Case Series]
He J (2025). [PMID: 39984716](https://pubmed.ncbi.nlm.nih.gov/39984716/). *Sci Rep*. [Diagnostic / Biomarker]
Abbasigharaei S (2025). [PMID: 41031555](https://pubmed.ncbi.nlm.nih.gov/41031555/). *Ideggyogy Sz*. [Epidemiology / Natural History]
de Albuquerque ALA (2025). [PMID: 39426797](https://pubmed.ncbi.nlm.nih.gov/39426797/). *J Pediatr (Rio J)*. [Epidemiology / Natural History]
Krivošík M (2025). [PMID: 40282862](https://pubmed.ncbi.nlm.nih.gov/40282862/). *Medicina (Kaunas)*. [Case Report / Case Series]
Chen Z (2025). [PMID: 40217509](https://pubmed.ncbi.nlm.nih.gov/40217509/). *BMC Anesthesiol*. [Case Report / Case Series]
Senghor HVF (2025). [PMID: 41322345](https://pubmed.ncbi.nlm.nih.gov/41322345/). *Neurol Genet*. [Case Report / Case Series]
Idárraga GDO (2025). [PMID: 40080775](https://pubmed.ncbi.nlm.nih.gov/40080775/). *JBRA Assist Reprod*. [Epidemiology / Natural History]

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neuronopathy, distal hereditary motor, autosomal recessive 4

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

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Research Landscape

Recent Publications

neuronopathy, distal hereditary motor, autosomal recessive 4

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications