• Profile
Close

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.
Go to Original
Only Doctors with an M3 India account can read this article. Sign up for free or login with your existing account.
4 reasons why Doctors love M3 India
  • Exclusive Write-ups & Webinars by KOLs

  • Nonloggedininfinity icon
    Daily Quiz by specialty
  • Nonloggedinlock icon
    Paid Market Research Surveys
  • Case discussions, News & Journals' summaries
Sign-up / Log In
x
M3 app logo
Choose easy access to M3 India from your mobile!


M3 instruc arrow
Add M3 India to your Home screen
Tap  Chrome menu  and select "Add to Home screen" to pin the M3 India App to your Home screen
Okay