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Charcot-Marie-Tooth disease type 1F

ORPHA101085
Synonym(s) CMT1F
Prevalence -
Inheritance Autosomal dominant
Age of onset Infancy
Childhood
ICD-10
  • G60.0
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1 (see this term), with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E (see this term) and is caused by mutations in the NEFL gene (8p21.2).

Expert reviewer(s)

  • Dr Davide PAREYSON
  • Dr Chiara PISCIOTTA

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