Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A (CCA1)

University Hospital, Clermont-Ferrand

Status: Completed

Conditions: Charcot-Marie-Tooth Type 1A Neuropathy

Study type: Observational

Funder types: Other

Identifiers

NCT01750710

CHU-0128

Details and patient eligibility

About

This exploratory cross-sectional study proposes, firstly, to objectify in a population of Charcot-Marie-Tooth disease type 1A (CMT 1A)if there is a correlation between the recording of electrical parameters and upper limb muscle strength of the thigh and in a second step, to seek a relationship between the measured parameters.

Full description

Patients suffering from CMT 1A neuropathy will be invited to go through a series of tests such as:

• Electromyography
• Isokinetic test
• Podiatric assessment
• Functional evaluations: Hand dexterity, limbs muscles strength
• Quality of life assessment with questionnaires

Enrollment: 37 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients older than 18 years
• Diagnosis of Charcot Marie Tooth disease, type 1A confirmed by molecular biology (duplication 17.p11.2)
• Listening and written French
• Agreement after written information, clear and honest about the purpose of the study, the nature of the tests and their possible side effects or bothersome.
• Strength of the quadriceps superior to 2/5 MMT MRC

Exclusion criteria

• Presence of other neurological comorbidity
• Presence of coronary artery disease unstabilized
• Peripheral neuropathy of other causes: diabetes, monoclonal gammopathy, malignancy, solid cancer, systemic autoimmune disease (lupus, Sjögren's disease, Wegener sarcoidosis ...), infectious disease (viral hepatitis, HIV ...), drugs known to be responsible for iatrogenic neuropathy.
• Gait trouble of other origin
• Patients unable to give their consent.
• Intellectual deficit that does not allow to comply with tests