Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan

Abstract

Background: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common type of hereditary neuropathy. The demyelinating pathology of CMT1A results in significant nerve conduction slowing such that a nerve conduction study (NCS) is important in the clinical assessment of CMT1A. In this study, we analyzed and reported the electrophysiological features of a large Taiwanese cohort with CMT1A. Methods: We retrospectively analyzed the NCS data of 106 Taiwanese patients with CMT1A. We also compared the electrophysiological parameters of the CMT1A patients with those of 20 patients with early-onset Charcot-Marie-Tooth disease type 1B (CMT1B). Results: The patients with CMT1A had a significant but variable degree of slowed nerve conduction. The median motor nerve conduction velocities (MNCVs) varied from 10.0 to 37.3. m/s in the entire CMT1A cohort but were more concordant in patients within a family (. p