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severe early-onset axonal neuropathy due to MFN2 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe early-onset axonal neuropathy due to MFN2 deficiency

MONDO:0019549

Also known as:AR-CMT2, Ouvrier typeSEOAN due to MFN2 deficiencyautosomal recessive Charcot-Marie-Tooth disease, Ouvrier type

Overview

A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.

ResearchLimited published research (3 articles)

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 severe early-onset axonal neuropathy due to MFN2 deficiency.

3 publications have been identified in PubMed for severe early-onset axonal neuropathy due to MFN2 deficiency. Research spans Review / Meta-Analysis (100%).

Recent Publications

Aynaashe A (2026). [PMID: 41621017](https://pubmed.ncbi.nlm.nih.gov/41621017/). *Amino acids*. [Review / Meta-Analysis]
Messina M (2025). [PMID: 38872485](https://pubmed.ncbi.nlm.nih.gov/38872485/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]
Abati E (2024). [PMID: 38722298](https://pubmed.ncbi.nlm.nih.gov/38722298/). *Journal of cellular and molecular medicine*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:90118

GARD

Genetic and Rare Diseases Info Center

GARD:19123

Questions for Your Care Team

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severe early-onset axonal neuropathy due to MFN2 deficiency

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team