Affordable Access

deepdyve-link
Publisher Website

Longitudinal 16-year study of dominant intermediate CMT type C neuropathy.

Authors
  • Pan, Yi1
  • Kafaie, Jafar1
  • Thomas, Florian P1, 2
  • 1 Hereditary Neuropathy Foundation Center of Excellence, Department of Neurology, Saint Louis University, St. Louis, Missouri.
  • 2 Hereditary Neuropathy Foundation Center of Excellence, Neuroscience Institute, Department of Neurology, Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, New Jersey. , (Jersey)
Type
Published Article
Journal
Muscle & Nerve
Publisher
Wiley (John Wiley & Sons)
Publication Date
Jan 01, 2020
Volume
61
Issue
1
Pages
111–115
Identifiers
DOI: 10.1002/mus.26724
PMID: 31587308
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Dominant-intermediate Charcot-Marie-Tooth neuropathy subtype C (DI-CMTC) is associated with mutations in the YARS gene. The aim of this study is to investigate the long-term natural history of the disease. In a 5-generation DI-CMTC family, we compared data from 2016 to that of 2000 in 13 of 21 original participants. Five women and 8 men were examined. While most symptoms and signs progressed, only gait progression was statistically significant (P = .016). The median CMT Neuropathy Score was 6.08 in 2000 and 11 in 2016 (P = .001). Quality of life (QOL) deteriorated in mobility (P = .008), pain/discomfort (P = .011), and anxiety/depression (P = .014). Median and ulnar compound muscle action potential amplitudes decreased from 9.35 ± 2.90 mV to 6.0 ± 2.9 mV (P = .002), and from 9.24 ± 2.10 mV to 6.06 ± 1.81 mV (P = .004), respectively, whereas motor nerve conduction velocities remained unchanged. DI-CMTC in this family is a slowly progressive disease with axonal degeneration, deteriorating mobility and QOL. © 2019 Wiley Periodicals, Inc.

Report this publication

Statistics

Seen <100 times