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Charcot-Marie-Tooth disease type 4F

Synonym(s) CMT4F
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
  • G60.0
MeSH -
MedDRA -


Disease definition

Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy.


It is a rare form of CMT4 but the few reported families are from diverse ethnic groups: Lebanese Shiite Muslims, Hispanic North Americans, Northern Europeans and a Vietnamese family.

Clinical description

Onset generally occurs in childhood but severity varies. Early onset with delayed motor milestones, and proximal and distal muscle weakness has been reported but a family in which the clinical picture was marked initially by sensory neuropathy has also been described.


Pathological studies reveal focally folded myelin, onion bulbs and demyelinization. CMT4 is caused by mutations in the PRX gene (19q13.2). Mutations in the same gene are also responsible for Dejerine-Sottas neuropathy (see this term).

Genetic counseling

CMT4F is transmitted in an autosomal recessive manner.

Expert reviewer(s)

  • Dr Carmen ESPINÓS
  • Pr Francesc PALAU

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