Longitudinal 16-year study of dominant intermediate CMT type C neuropathy
Muscle & Nerve Oct 11, 2019
Pan Y, et al. - Given that dominant-intermediate Charcot-Marie-Tooth neuropathy subtype C (DI-CMTC) was correlated with mutations in the YARS gene, researchers examined the long-term natural history of the disease. Data were compared from 2016 to that of 2000 in 13 of 21 original candidates in a 5–generation DI-CMTC family. Five women and 8 men have been examined. Only gait progression was statistically significant while most symptoms and signs progressed. Data reported that the median CMT Neuropathy Score was 6.08 in 2000 and 11 in 2016. Mobility, pain/discomfort, and anxiety/depression have declined in quality of life (QOL). Potential amplitudes of median and ulnar compound muscle activity decreased from 9.35 ± 2.90mV to 6.0 ± 2.9mV, and from 9.24 ± 2.10mV to 6.06 ± 1.81mV, respectively, while velocities of motor nerve conduction remained the same. In this family, DI-CMTC is a slowly progressive disease with axonal degeneration, deteriorating mobility and QOL.
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