Orphanet: MME related autosomal dominant Charcot Marie Tooth disease type 2

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MME-related autosomal dominant Charcot Marie Tooth disease type 2

Disease definition

A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.


Classification level: Disorder
  • Synonym(s):
    • MME-related autosomal dominant CMT2
    • MME-related autosomal dominant hereditary motor and sensory neuropathy type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: -
  • OMIM: 617017
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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