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Charcot-Marie-Tooth disease type 4E

Disease definition

Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.

ORPHA:99951

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive congenital hypomyelinating neuropathy
    • CMT4E
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G60.0
  • OMIM: 605253
  • UMLS: -
  • MeSH: C535301
  • GARD: 9203
  • MedDRA: -

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