severe early-onset axonal neuropathy due to MFN2 deficiency
Findings
No curated finding names severe early-onset axonal neuropathy due to MFN2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0019549), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MFN2HGNC:16877
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: severe early-onset axonal neuropathy due to MFN2 deficiency
- Also called
- AR-CMT2, Ouvrier typeautosomal recessive Charcot-Marie-Tooth disease, Ouvrier typeSEOAN due to MFN2 deficiency