A Registered Cohort Study on Charcot-Marie-Tooth Disease
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The aim of the study is to analyze the natural history data data from Charcot-Marie-Tooth disease and related disorders in China, to assess the clinical, genetic, epigenetic features of patients with Charcot-Marie-Tooth disease, and to optimize clinical management.
The change of Charcot-Marie-Tooth Neuropathy Score (CMTNS) during 6 month [ Time Frame: Up to 6 months ]
Charcot-Marie-Tooth Neuropathy Score (CMTNS) was first proposed and validated by Shy et al (Neurology, 2005). to provide a reliable measure of impairment in Charcot-Marie-Tooth (CMT). The CMTNS is composed of 9 items evaluating different functions related to the disease: 5 of impairment ('Sensory Symptoms', 'Pin Sensibility', 'Vibration', 'Strength Arms' and 'Strength Legs'), 2 of activity limitations ('Motor Symptoms Arms' and 'Motor Symptoms Legs') and 2 electrophysiological measures. Each item is scored from 0 to 4 and the total sum of the item scores provides a global measure of disease severity, with higher scores indicating worsening function.
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Layout table for eligibility information
Ages Eligible for Study:
Child, Adult, Older Adult
Sexes Eligible for Study:
Accepts Healthy Volunteers:
CMT patients who are diagnosed in the First Affiliated Hospital of Fujian Medical University.
Patients with the clinical diagnosis of Charcot-Marie-Tooth disease
Genetic diagnosis of patients with Charcot-Marie-Tooth disease
Unrelated healthy controls
Decline to participate.
Other peripheral neuropathy caused by trauma, immunity and toxicosis.