Category: Research
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Diagnostic Pathways for Idiopathic Neuropathy
“You have a serious illness of an undisclosed nature.”
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CIDP and CMT
I’ve been interested in the diseases and disorders that can be mis-diagnosed as CMT (or vice versa) for a while. One that has come up a lot is Chronic Inflammatory…
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Physical and Emotional Pain Need Equal Attention in CMT and Polyneuropathy Communities
Alongside research for treatments and cures, the CMT community needs to take a hard look at some elephants in the room — the most common and most remnediable pains and…
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Differential Diagnosis with Dr. ChatGPT-4 in the House
In a matter of seconds, ChatGPT reviewed and confirmed the findings of three neurologists and a genetic counselor that took me six years to gather. It also suggested a new…
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The “First Treatable CMT Disease” is Neither CMT Nor a Disease
CMT-related research may truly do away with CMT disease first by eliminating or updating how naming and classification works in neurological pathology.
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New Gene (PSAT1) Linked to Treatable CMT-like Outcomes
Two new and treatable cases of peripheral neuropathy reported in children raise more questions about the definition and diagnosis of CMT types.
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Physical Assessments for CMT
There are several validated assessment instruments for CMT to take stock of its current and later states of progression.
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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…
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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…
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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…
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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…
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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…
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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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A 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…
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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)”…
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ACE-083 Trials Show No Benefit
Acceleron Pharma Inc’s ACE-083 drug trials “did not achieve statistically significant improvements in functional endpoints relative to placebo” with CMT patients, so it will no longer be developed.
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CMT and Respiratory Dysfunction
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.
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New Genetic Diagnostics for CMT
Here’s an informative article from the Hereditary Neuropathy Foundation (HNF) about current best practices in genetic diagnosis of CMT. A lot of examples are given of people with less common…
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Second Phase 3 Clinical Trial for CMT1A “Pleodrug”
After the setback of having to do a second Phase 3 clinical trial, Pharnext’s ongoing drug trials for PXT3003 show positive results in people with CMT1A.
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Should I play the didgeridoo (or harmonica) to fight sleep apnea‽
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.
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Respiratory Problems and CMT
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.
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Sleep Apnea and CMT
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…
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The State of Research for Cures (2019)
The US-based CMTA (Charcot Marie Tooth Association) has a 12-year-old program called the Strategy to Accelerate Research (STAR) that is actively pursuing the causes and possible cures for CMT. STAR…
