Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study

Am J Phys Med Rehabil. 2011 Aug;90(8):628-37. doi: 10.1097/PHM.0b013e31821f6e32.


Objective: : We evaluated the sensitivity of various rehabilitation and lung function scales to detect differences between people with Charcot-Marie-Tooth (CMT) disease and healthy controls. We also studied whether these measurements are sensitive to disclose changes in patients with CMT disease after rehabilitative treatment.

Design: : Eight patients with different types of CMT participated in the study. Data were gathered at baseline; at the end of the treadmill training, stretching, respiratory, and proprioceptive exercise (TreSPE) treatment period; and after a washout period of 6 mos. The following instruments were used for data collection: Medical Research Council scale for lower limb strength; Tinetti Balance Scale; Physical Performance Battery; ankle angle, oxygen consumption, and lung function tests; peak treadmill velocity and slope; time to walk 6 m; and CMT Neuropathy Score. The participants underwent TreSPE treatment twice every week for 8 wks.

Results: : All rehabilitative measures were significantly worse in subjects with CMT disease than in healthy controls. Lung function was always normal except for the maximum expiratory pressure and maximum inspiratory pressure. No dropouts or worsening in any of the different outcome measures were observed after TreSPE. The ankle angle and the time to walk 6 m were the only measures that significantly improved after treatment.

Conclusions: : The rehabilitative outcome measures used in this protocol are useful in detecting clinical impairment in people with CMT disease. Lung function tests were confirmed to be minimally abnormal in patients with CMT disease. The TreSPE treatment, besides being safe and well tolerated, induced some training effects in CMT neuropathy, in the absence of lung function amelioration and effort tolerance. Follow-up showed that CMT patients should be treated at least twice every year because a regression of all outcome measures to the baseline state was found after a 6-mo washout period.

Publication types

  • Controlled Clinical Trial

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease / physiopathology
  • Charcot-Marie-Tooth Disease / rehabilitation*
  • Exercise Therapy*
  • Female
  • Gait Disorders, Neurologic / physiopathology
  • Gait Disorders, Neurologic / rehabilitation*
  • Humans
  • Male
  • Middle Aged
  • Muscle Strength / physiology
  • Neurologic Examination
  • Outcome Assessment, Health Care*
  • Oxygen Consumption / physiology
  • Pilot Projects
  • Proprioception / physiology
  • Range of Motion, Articular / physiology
  • Respiratory Function Tests
  • Respiratory Therapy*
  • Walking / physiology
  • Young Adult