Charcot-Marie-Tooth Disease
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Ning Wang, MD., PhD.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
China
Contacts
Primary ContactNing Wang, MD, PhD
Outcome results
None listed