Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet

J Pediatr Orthop. 2006 Jul-Aug;26(4):438-43. doi: 10.1097/01.bpo.0000226278.16449.c4.

Abstract

It is not uncommon to see a patient with bilateral cavovarus feet in the outpatient setting. A large percentage of these patients are subsequently diagnosed with an associated condition, such as Charcot-Marie-Tooth disease. The purpose of the present report was to determine the prevalence of Charcot-Marie-Tooth disease in children who have bilateral cavovarus feet. A chart review of children with bilateral cavovarus feet was done. Patients were excluded if they had an existing medical problem known to be associated with bilateral cavovarus feet. Charcot-Marie-Tooth disease was diagnosed after a clinical assessment by an orthopaedic surgeon and a neurologist. The diagnosis was confirmed by either standard nerve conduction velocity studies and/or the CMT DNA Duplication Detection Test (Athena Diagnostics Inc, Worchester, MA). A positive family history was noted only if the diagnosis had been confirmed by a nerve conduction velocity study and/or CMT DNA Duplication Detection Test. One hundred forty-eight patients met the study criteria. The probability of a patient with bilateral cavovarus feet being diagnosed with Charcot-Marie-Tooth disease, regardless of family history, was 78% (116 patients). A family history of Charcot-Marie-Tooth disease increased the probability to 91%. It is recommended that all patients with bilateral cavovarus feet, especially with a known family history, be investigated for Charcot-Marie-Tooth disease.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / epidemiology*
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Electromyography
  • Female
  • Follow-Up Studies
  • Foot Deformities / diagnostic imaging
  • Foot Deformities / etiology*
  • Humans
  • Male
  • Prevalence
  • Radiography
  • Retrospective Studies