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)."
CMT1 types have commonly been referred to as "demyelinating" and CMT2 as "axonal," which gives the impression the nature of the nerve damage between the two is fundamentally different.
At some point I'd like to create a page of CMT resources in Canada just to present that all in one place. If you have anything or anyone you think should be on the list, please let me know! 📣
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.
It seems the new hope for VM202 as a CMT1a treatment is perhaps Hellxmith's latest attempt to find a market for an experimental product that has not panned out as hoped.
Two blogs about CMT I found recently: the MFN2 Project and Help Chronic Pain in Alberta.
Many people with CMT report having problems with breathing.
The Rare Diseases Network is looking for participants in a new study looking for unknown causes of the most common types of CMT.
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.
There are not a lot of Canadian groups and resources organized for people with CMT. How can we build this community?
The Inherited Neuropathy Consortium (INC) is asking for CMTers with a COVID diagnosis to take an anonymous questionnaire.
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.
