Charcot-Marie-Tooth disease type 1A is the most common form of inherited neuropathy that causes peripheral nerve damage in all four limbs. In addition to the well-known distal motor and sensory symptoms, fatigue is one of the most common symptoms reported by patients. However, there is very little scientific data on this topic. Fatigue is associated with changes in mobility and quality of life. This study investigates the magnitude and impact of fatigue on patients' sensory-motor function and mobility (standing and walking). Fatigue is a complex phenomenon. It is therefore essential to assess all the factors that may be at the origin of this symptom (perceived fatigue and fatigability) using innovative and robust assessment methods. These methods are based on quantitative non-invasive neurophysiologic measures (electromyography and transcranial magnetic stimulation). The patients can quantify and identify more precisely the origin of fatigability (peripheral and central). This objective approach needs to be combined with the usual methods of measuring fatigue using valid and reliable patient-reported outcome measures. A quantitative measure of movement during walking must also be included to assess changes in fatigue during functional movement. To quantify the proportion of fatigue associated with CMT1A, the investigators chose to compare data from patients with those of healthy subjects matched for age, height and lean body mass. A better understanding of the role of fatigue in limiting walking and balance capacities in these patients will allow the investigators to refine the inpatient and outpatient management.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
PREVENTION
Masking
NONE
Enrollment
44
Tip: Ensure that this name matches the name used in the associated Arm Description. CLINICAL ASSESSMENT OF BODY FUNCTION (PROM AND PHYSICAL EXAMINATION): * Perceived fatigue * Mental functions * Sensory functions and pain * Neuromusculoskeletal and movement-related functions * Functions of the cardiovascular and respiratory systems o Exercise stress test * Fatigability (neuromuscular fatigue) * Lower limbs * Maximum voluntary strength and power * Study of the central and peripheral components of fatigue ACTIVITIES AND PARTICIPATION * Mobility * Clinical standard tests for balance and walking * Quantified motion analysis * Activity level Quality of life The same evaluation tests will be performed on patients and healthy volunteer controls
Pôle de médecine physique et de réadaptation, Hôpital de Hautepierre, Strasbourg Centre de référence des maladies neuromusculaires, Institut Universitaire de Réadaptation Clémenceau, Strasbourg
Strasbourg, France
Fatigability profile
Difference in isometric force developed by the knee extensors (assessment of overall neuromuscular fatigue) before and after a tiring exercise (stress test), during a maximum voluntary contraction, expressed in N.m-1, assessed on an isokinetic dynamometer (CONTREX®), compared between patients with mCMT1A and healthy volunteers.
Time frame: 7 days
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