Orphanet: Autosomal dominant Charcot Marie Tooth disease type 2F

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Autosomal dominant Charcot-Marie-Tooth disease type 2F

Disease definition

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.


Classification level: Disorder
  • Synonym(s):
    • CMT2F
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult, Elderly
  • ICD-10: G60.0
  • OMIM: 606595
  • UMLS: C1847823
  • MeSH: -
  • GARD: 9194
  • MedDRA: -

Detailed information

Article for general public


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