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Charcot-Marie-Tooth disease type 4C

Synonym(s) CMT4C
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
  • G60.0
  • C1866636
  • C535423
MedDRA -


Disease definition

Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis.


CMT4C is a relatively frequent form of CMT4: it was first described in Algeria but families have since been reported from Morocco, Mediterranean countries (Italy, Turkey and Greece) and from Germany, the Netherlands and France.

Clinical description

Scoliosis may be the inaugural feature of the disease, with onset usually occurring in childhood. However, delayed walking has been observed as an early sign in some cases. Neuropathy usually manifests during childhood or adolescence and is slowing progressive leading to severe motor retardation in some cases. Foot deformities are frequent and additional features may include respiratory insufficiency, hypoacousis and deafness.


CMT4C is caused by mutations in the SH3TC2 gene (5q32). In the Gypsy population, the disease has been suggested to arise as a result of a founder mutation (p.R1109X), but at least one other mutation (p.C737_P738delinsX), has been found to underlie CMT4C in this population.

Genetic counseling

CMT4C is transmitted in an autosomal recessive manner.

Expert reviewer(s)

  • Dr Carmen ESPINÓS
  • Pr Francesc PALAU

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