Outcome measures for Charcot-Marie-Tooth disease: Clinical and neurofunctional assessment in children

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Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, presenting with symptoms often occurring since childhood, and showing a progressive course. At present, there are no valid and reliable measures for evaluation of impairment and disability in the pediatric population. The aim of this study was to determine the usefulness of outcome measures, commonly used in adult patients, in CMT children. We report the results of a comprehensive evaluation of 21 children affected with CMT type 1A, including clinical examinations, measure of hand and foot muscle strength with a hand-held dynamometer, and the following scales: CMT Neuropathy Score or its clinical component CMT Examination Score, Overall Neuropathy Limitations Scale (ONLS), Walk-12 questionnaire, and nine-hole peg test (9-HPT). Hand grip, three-point pinch, and foot dorsiflexion strength were significantly lower than age/sex equivalent in almost all cases. 9-HPT was significantly abnormal in 62% of patients and CMT Examination Score was

Original languageEnglish
Pages (from-to)237-242
Number of pages6
JournalJournal of the Peripheral Nervous System
Issue number3
Publication statusPublished - Sep 2011


  • Charcot-Marie-Tooth disease
  • childhood
  • disability
  • impairment
  • outcome measures

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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