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Charcot-Marie-Tooth disease type 1F

Disease definition

Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, 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 the 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 and is caused by mutations in the NEFL gene (8p21.2).

ORPHA:101085

Classification level: Disorder
  • Synonym(s):
    • CMT1F
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood
  • ICD-10: G60.0
  • ICD-11: 8C20.0
  • OMIM: 607734
  • UMLS: C1843164
  • MeSH: -
  • GARD: 9191
  • MedDRA: -

  A summary on this disease is available in Deutsch (2016) Español (2016) Italiano (2016) Nederlands (2016) Polski (2016, pdf) Polski (2016)

Detailed information

General public

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.