Charcot-Marie-Tooth (CMT) disease is caused by a genetic abnormality involving the PMP22 gene, resulting in demyelination of the peripheral nerves. Demyelination leads to sensorimotor impairment and causes progressive muscle weakness and tendon contractures, initially affecting the lower limbs. Consequently, individuals with CMT experience balance impairments and gait disturbances, including ankle instability, foot drop, and postural instability, which lead to frequent falls and reduced quality of life. Currently, there is no disease-modifying treatment for CMT.
Several rehabilitation approaches have been proposed, including endurance training and muscle strengthening programs, to improve independence in activities of daily living. However, rehabilitation practices for individuals with CMT remain poorly standardized, and there is still a lack of clearly defined rehabilitation protocols, despite broad agreement among healthcare professionals regarding their potential benefits.
More recently, noninvasive focal tendon vibration has been investigated in several neurological disorders to improve sensory function, balance, and motor performance. Previous studies suggest that mechanical vibratory stimulation applied to the quadriceps tendon may induce sustained improvements in postural control and lower-limb muscle strength.
The present study aims to evaluate a rehabilitation program combined with tendon vibratory stimulation. The objective is to compare the effectiveness of a short-term (2-week), intensive multidisciplinary rehabilitation program focused on balance with different types of focal tendon vibration, in order to better address balance impairments and their associated complications in individuals with Charcot-Marie-Tooth disease.
Individuals with genetically confirmed Charcot-Marie-Tooth disease type 1A (CMT1A), characterized by PMP22 gene duplication on chromosome 17 (17p11.2).
Age between 18 and 65 years.
Overall Neuropathy Limitations Scale (ONLS) score between 2 and 3/7 for the lower limbs.
Affiliation with a social security/health insurance system.
Comorbidities causing peripheral neuropathy (e.g., diabetes, renal failure, medication-induced neuropathy).
Balance or gait disorders due to another cause.
Individuals without a permanent residence.
Individuals deprived of liberty by judicial or administrative decision or under legal guardianship.
Parallel
Multidisciplinary rehabilitation program
Other intervention2-week intensive multidisciplinary rehabilitation program including physical therapy, occupational therapy, and adapted physical activity sessions, followed by balance assessments and evaluation of neuropathy status.
Berg Balance Scale
The primary outcome measure of this study will be the assessment of balance using the Berg Balance Scale (BBS). The BBS is a 14-item scale in which each item is scored from 0 to 4 points and evaluates static and dynamic balance as well as fall risk. This scale has been validated in individuals with neurological disorders and has been used to assess balance impairments in individuals with Charcot-Marie-Tooth disease. The BBS has demonstrated good reliability and responsiveness to change. A change of 4 to 7 points, depending on the baseline score, has been identified as a clinically meaningful indicator of improvement in balance.
CMT Neuropathy Score
This validated score provides a reliable measure of overall neuropathy severity.
Posturography
Assessment of balance and proprioception by recording center of pressure sway on a force platform.
Timed Up and Go (TUG) test
This test is used to identify individuals at risk of falls and to assess functional mobility. Participants are timed while standing up from a chair without armrests, walking 3 meters, turning around, walking back to the chair, and sitting down.
Knee joint position sense assessment using electronic goniometers
Participants will be seated with their knees flexed at 90°. The examiner will passively move the knee to a target angle. After returning to the starting position, participants, with their eyes closed, will be asked to actively reproduce the target knee position.
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