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.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
Inclusion Criteria:
* Patients with the clinical diagnosis of Charcot-Marie-Tooth disease
* Genetic diagnosis of patients with Charcot-Marie-Tooth disease
* Unrelated healthy controls
Exclusion Criteria:
* Decline to participate.
* Other peripheral neuropathy caused by trauma, immunity and toxicosis.
Primary outcome measure(s)
The change of Charcot-Marie-Tooth Neuropathy Score (CMTNS) during 6 month — 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.
Trial sites (1)
Facility
City
Region
Status
First Affiliated Hospital of Fujian Medical University
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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