Category: Research
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CMT, Depression, and Anxiety
It’s not surprising to learn from another (and more detailed) study (summarized here) than I’ve seen before that people with CMT are very often dealing with depression and/or anxiety, especially with more severe versions of the disease, and many go “untreated.” “Untreated” in this case means “unmedicated,” and there is a lot more that can […]
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Conference Videos Worth Watching
The 2022 CMT Patient and Research Summit has all its session recordings online now. These are mostly research-oriented, but not all. It’s good to see a few sessions on therapy and things you can do for yourself, in addition to the research focused on specific CMT subtypes. Of note: CMT is a Multi-System Disease by […]
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The first treatable form of CMT?
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).”
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All types of CMT are “Axonal”
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.
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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.
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Maybe it will work on CMT..?
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.
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CMT Blogs of Note
Two blogs about CMT I found recently: the MFN2 Project and Help Chronic Pain in Alberta.
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New discovery of a genetic cause (and likely cure) for a previously unknown subtype of CMT2
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.
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New Study of Genetic Causes of CMT Needs Participants
The Rare Diseases Network is looking for participants in a new study looking for unknown causes of the most common types of CMT.
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CMT and COVID-19
The Inherited Neuropathy Consortium (INC) is asking for CMTers with a COVID diagnosis to take an anonymous questionnaire.
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CMT’s Impact on Quality of Life Can Be Slight
Even though the measurable electrophysiological impact of CMT1A is high, the subjective level of experienced disability is pretty low, given the ways you can learn to compensate.
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Genetic Cause of CMT2 Discovered?
A recent study published in the Journal of Clinical Investigation looked at two unrelated families with CMT2 and identified “autosomal dominant mutations of the canonical Notch ligand Jagged1 (or JAG1)” in them — a likely cause for their CMT that was also backed up by experiments in mice. The CMT News site covers this in […]
CMT Blog 