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Dejerine-Sottas syndrome

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.

ORPHA:64748

  • Synonym(s):
    • Charcot-Marie-Tooth disease type 3
    • HMSN 3
    • HMSN III
    • 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
  • ICD-10: G60.0
  • OMIM: 145900
  • UMLS: C0011195
  • MeSH: C538392
  • GARD: 9204
  • MedDRA: -

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