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)."
All types of CMT are “Axonal”
Canadian CMT Resources
The Problem with Writing about CMT
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.
Maybe it will work on CMT..?
CMT Blogs of Note
CMT’s Impact on Respiration
New Study of Genetic Causes of CMT Needs Participants
New discovery of a genetic cause (and likely cure) for a previously unknown subtype of CMT2
CMT in Canada
CMT and COVID-19
CMT, COVID-19, and Respiratory Health
A few weekends ago, I listened to the HNF webinar on COVID-19 and CMT with Dr. John Bach of Rutgers University Medical School, a leader in the field of pulmonary rehabilitation, particularly for people with neuromuscular diseases. You can watch it and get a bunch of other materials now — for free — thanks to the HNF.