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Dejerine-Sottas syndrome

Synonym(s) Charcot-Marie-Tooth disease type 3
Hereditary motor and sensory neuropathy type 3
Hereditary motor and sensory neuropathy type III
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
or Not applicable
Age of onset Infancy
  • G60.0
  • C0011195
  • C538392
MedDRA -


Disease definition

Dejerine-Sottas syndrome is a clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease (see this term) characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.

Expert reviewer(s)

  • Dr Davide PAREYSON
  • Dr Chiara PISCIOTTA

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Guidance for genetic testing
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