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Charcot-Marie-Tooth disease type 4B3

Disease definition

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

ORPHA:363981

  • Synonym(s):
    • CMT4B3
    • Charcot-Marie-Tooth disease with focally folded myelin
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • OMIM: 615284
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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