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polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive

MONDO:0011463

Overview

A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.

ResearchLimited published research (2 articles)

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 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive.

2 publications have been identified in PubMed for polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Armirola-Ricaurte C (2026). [PMID: 40830826](https://pubmed.ncbi.nlm.nih.gov/40830826/). *Brain*. [Basic Science / Preclinical]
Fogel BL (2025). [PMID: 40464291](https://pubmed.ncbi.nlm.nih.gov/40464291/). *Ann Neurol*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604431

Orphanet

European rare disease database

Orphanet:538096

GARD

Genetic and Rare Diseases Info Center

GARD:17976

Questions for Your Care Team

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polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team