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Severe early-onset axonal neuropathy due to MFN2 deficiency

Disease definition

Severe early-onset axonal neuropathy due to MFN2 deficiency is 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.

ORPHA:90118

  • Synonym(s):
    • AR-CMT2, Ouvrier type
    • Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
    • SEOAN due to MFN2 deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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