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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

37 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-12-31

Study Completion Date

2016-04-28

Brief Summary

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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.

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Detailed Description

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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

Conditions

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Charcot-Marie-Tooth Type 1A Neuropathy

Study Design

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Observational Model Type

OTHER

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No