Pilot Study to Evaluate Fatigue and Fatigability Profiles and Their Impact on Walking and Balance in Patients With Charcot-Marie-Tooth Type 1A Disease Using a Global Approach in Comparison to Healthy Volunteers

Inclusion criteria

for patients:

• Age ≥ 18 years and < 75 years
• Patient with mCMT1A confirmed by genetic analysis (based on data recorded in the patient file)
• Patient able to walk a minimum of 200 metres without a break, with or without equipment and/or technical aids (collected during questioning)
• Patient able to get on and off a cycloergometer safely without assistance or with minimal assistance
• Patient who has had a cardiological check-up before the stress test (ECG and cardiac ultrasound less than 6 months old) or for whom a check-up is scheduled before the inclusion
• Patient affiliated to a health insurance scheme or beneficiary of such a scheme

Inclusion criteria

for Healthy volunteers:

• Age ≥ 18 years and < 75 years
• Subject affiliated to or benefiting from a health insurance scheme
• Subject who has had a cardiological work-up prior to stress testing (ECG and cardiac ultrasound less than 6 months old) or for whom a work-up is scheduled prior to the procedure.

Exclusion criteria

for patients:

• Patients with all other forms of neuropathy (HNPP, other types of CMT, secondary neuropathies)
• Patients with any of the following

• An associated neurological disease other than mCMT1A
• Severe joint disease of the lower limbs
• Contraindication to isokinetic testing
• Contraindication to an exercise stress test and exercise reconditioning program
• A contraindication to Transcranial Magnetic Stimulation (TMS) : epilepsy, intracranial metallic foreign body, hearing aid or cochlear implant, unstable skull bone fracture, deafness, etc.
• Patients who have undergone lower limb surgery in the 12 months prior to inclusion or for whom lower limb surgery is scheduled during the participation period.
• Pregnant or breastfeeding or planning to become pregnant within the next 4 months
• BMI > 35 kg/m2
• Patient unable to give informed consent, unable to understand informed information
• Subject under court protection
• Subject under guardianship or curatorship
• Subject in a period of exclusion (determined by a previous or current study)

Exclusion criteria

for healthy volunteers:

• History of neurological disease
• Severe joint damage in the lower limbs
• Any of the following

• Contraindication to isokinetic testing
• A contraindication to an exercise stress test and an exercise reconditioning program
• A contraindication to TMS: epilepsy, intracranial metallic foreign body, hearing aid or cochlear implant, unstable skull bone fracture, deafness, etc.
• Any person who has undergone surgery on the lower limbs in the 12 months prior to inclusion, or for whom surgery on the lower limbs is scheduled during the participation period.
• Pregnant or breastfeeding, or planning to become pregnant within the next 4 months
• Person unable to give informed consent, unable to understand informed information
• BMI > 35 kg/m2
• Person under legal protection
• Person under guardianship or curatorship
• Person in a period of exclusion (determined by a previous or current study)