Pediatric Charcot-Marie-Tooth disease

Pediatr Clin North Am. 2015 Jun;62(3):767-86. doi: 10.1016/j.pcl.2015.03.012. Epub 2015 Apr 15.


Heritable diseases of the peripheral nerves (Charcot-Marie-Tooth disease [CMT]) affect the motor units and sensory nerves, and they are among the most prevalent genetic conditions in the pediatric patient population. The typical clinical presentation includes distal muscle weakness and atrophy, but the severity and progression are largely variable. Improvements in supportive treatment have led to better preservation of patients' motor functions. More than 80 genes have been associated with CMT. These genetic discoveries, along with the developments of cellular and transgenic disease models, have allowed clinicians to better understand the disease mechanisms, which should lead to more specific treatments.

Keywords: Charcot-Marie-Tooth disease; Electrophysiology; Gait; Pediatric.

Publication types

  • Review

MeSH terms

  • Age of Onset
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Charcot-Marie-Tooth Disease / therapy
  • Child
  • Genotype
  • Humans
  • Mutation / genetics
  • Phenotype