I wrote this brief article on the way the SORD gene works (or fails to work) for the Hereditary Neuropathy Foundation. SORD mutations cause "the most common autosomal recessive form of CMT2 (CMT2A1), autosomal recessive intermediate CMT (CMTRIA), and the overlapping category of distal hereditary motor neuropathy (dHMN)."
I've been increasingly irritated lately by US-based CMT-related non-profit organizations that seem to compete with each other for donations — supposedly they drive research for "treatments and cures." How well they actually do this relative to the padding of their own budgets is a good question I might take up down the line, but you would think they might at least put some effort into writing plain-English summaries of technical material (medical and scientific research) in ways that educate and inform regular people. But no.
Published in Nature Genetics last month, the INC group's findings are a big deal, and there is a really cool story from the University of Miami's Miller School of Medicine about how the research team came together.
Science is starting to confirm very wide ranging effects to the nerve damage CMT does, often slowly and over time so it may not be very noticeable for many years.
Previously I mentioned and linked to several of the self-tests that can be done to check the likelihood of having sleep apnea. One of these self-evaluation tests is called STOP-BANG, and you can get it at the Harvard Medical School website.
Some recent studies on obstructive sleep apnea got attention for concluding something fairly obvious — losing weight and reducing fat in the tongue might be the best treatment for OSA.
Earlier in life, relatively healthy people with CMT can overlook signs of compromised respiratory function which will start to cause more and more problems for them later.
Studies show CMT tends to come with Disturbed Sleep, Depression, and Reduced Quality of Life. 😞
This post summarizes the scientific research I've absorbed on the subject of CMT and sleep apnea. It's definitely accurate relative to my own experience in the past year or so.