☔ “It is raining over the mountains, let us work together today so that the flood may not overwhelm us tomorrow.” 🌊
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Alice Wong: Our Stories Belong to Us
Alice Wong, who had SMA, built the Disability Visibility Project and #CripTheVote so disabled people could tell their own stories. Why it matters for CMT.
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Shark Tooth: The CMTA’s Stake in a Board Member’s Biotech
In 2025 the CMTA held a $248,763 stake in a for-profit CMT1A company controlled by one of its own directors, built from donations earmarked for it. The audit says that director recused himself. Nothing explains the rest.
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Who Is Behind the CMTA?
The people deciding who gets the CMTA’s research money are largely the people getting it. A look at the charity’s staff, boards, tax returns and grants, from its own pages and IRS filings.
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The Sloth’s Taxonomy: A Review of “Experts in CMT”
Experts in CMT stretches a contested CMT taxonomy wider, brands its uncredentialled author an expert, and cites his employer, the CMTA, without disclosing it as such.
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Barbies and Warriors: How the CMTA Sells CMT
“CMT Barbie,” “CMT warriors,” a CBD sponsor, an Amazon store with a commission, and an unproven oxygen therapy that can cost thousands. An exposé of how the US-based CMTA markets CMT, in its own words.
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Three “Treatable CMT” Stories, and What the Market Taught Us
Three heavily publicized CMT treatments of 2019–2023 (govorestat, PXT3003 and Engensis) all ended without a CMT approval, and the way they ended says a lot about how drug development treats rare neuropathies.
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How the CMTA Mishandles Moderation and Its Facebook Community
A CMTA Facebook moderator I’d blocked got me removed from the group, with no appeal. Years later, the CMTA still emails me after promising in writing to delete my records. Here’s the story, and what Canadian and US anti-spam and privacy laws say about it.
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Kahtulas
I’ve had these broken Kahtoola links on my desk since the last winter I did a lot of walking.
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The Hope Mission
I just have a new poem to share today.
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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
CIDP and CMT can be mistaken for each other, especially demyelinating CMT1. How often misdiagnosis happens, and why it matters since CIDP is treatable.
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There is no such thing as standing, there is only being held up.
A passage from Franz Rosenzweig’s letter to his sister on why no one can save themselves, and how each of us is held up by the hands of our neighbours.
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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 remediable pains and struggles impacting our quality of daily life.
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Cal Newport has something surprisingly sane to say about AI — and medicine, and many other topics
David Epstein and Cal Newport discuss the possible impact of AI on medicine and medical diagnostics.
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Differential Diagnosis with Dr. ChatGPT 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 diagnostic path that was only vaguely hinted at by the human diagnosticians.
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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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Anxious Dogs and People: Using AI to Make It Awkward
Throwing curveballs at ChatGPT gets the most interesting results. You start to see the “artificial” part of AI that often reflects an uncomfortable problem or ugly contradiction in the ways humans think and use language — especially to classify others, which always indicates status and value.
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Fuck Pain! And People Who Don’t Get It
Some medical facts and advice about pain — and then some straight talk about the question pain makes more acute: why live at all?
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If Pain Makes You Avoid Exercise, You’ll Gain More of It
A recent study of people with CMT who engaged in athletic activities at least once a week (mostly gym workouts) for at least six months showed their pain levels were noticeably lower than another group that didn’t exercise. Depression levels and overall Quality of Life scores on surveys were better for the folks who hit…
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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
An Italian registry study found people with CMT screen positive for depression more often than controls, and many go untreated. What else can help.
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What does it mean to consider yourself disabled?
Many of us can say both yes and no, feeling both as true and false.
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The Healthy Creative Balance: Between Unreason and Overthinking
“It seems that the key to creative cognition is opening up the floodgates and letting in as much information as possible.”
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Crip Time
What would a calendar look like that prioritized and protected caregiving? What about one that understood … different types of relationships and the soft but consistent focus they demand? That understood creativity, and children, or grief? What would a family calendar look like that made its primary steward and their needs as visible as others?
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Conference Videos Worth Watching
Session recordings from the CMTA’s 2022 CMT Patient and Research Summit, mostly on research, with a few on therapy and self-care. The events have passed.
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Walk4CMT is coming up on September 18!
I will be walking as far as I comfortably can in Muscular Dystrophy Canada’s Virtual Walk4CMT on Saturday, September 18 — which is somewhere north of 20km at which point the numbness setting it around 10km usually gets into a little more active pain, thanks of course to the effects of a relatively mild case…
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BILLYs
Thick sole, wide toe box, big ankle support, and the upper unzips to fold open for easy access and orthotic insertion. What’s not to like about BILLYs?
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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
A refreshed directory of independent CMT, neuromuscular, chronic-pain and disability-justice blogs and newsletters, checked October 2026.
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CMT’s Impact on Respiration
Many people with CMT report having problems with breathing.
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A New Genetic Cause of 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 Research and Support Organizations in Canada that are Actually Canadian
The CMT group most Canadians find online is the US-based CMTA. Here are CMT research and support organizations and resources that are actually Canadian.
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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, 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…
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SIIT and CMT
By far the best thing to do to build mitochondria from an exercise perspective is something called Sub-maximal Intensity Interval Training (SIIT).
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Never Get Sick!
Here’s my list of immune boosters and ear-nose-throat (ENT) soothers and cleansers — good in every flu and cold season for prevention and healing.
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Nerve Tests Don’t Predict Quality of Life in CMT1A
In a study of adults with CMT1A, severe nerve-test results didn’t match up with quality of life, independence, or hand function. Nerve conduction tests say little about how you’re actually living with CMT.
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Genetic Cause of CMT2 Discovered?
A 2020 study linked JAG1 mutations to axonal CMT2 in two families. Updated in 2026: JAG1-related CMT now has its own OMIM entry, CMT2HH.
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Late Diagnoses
In the past the norm was we didn’t get a diagnosis, so family and friends just shrugged it off and called us “clumsy” or pretended nothing was wrong. I hope this is an outlier experience, but I was pushed into sports, like track and cross country, in high school when my feet and ankles became…
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Dining in the Dark
Blind dining means you enter a restaurant that is completely pitch dark from beginning to end, and you are served by a waitstaff who are literally blind.
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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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Book Review: Shades of Loneliness
Shades of Loneliness offers some insight into why we medicalize people and disorders we can’t integrate into society by normal means.
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Video short on CMT – Rare Film Festival
This is a great, short video that explains the basics of CMT — made by students at the University of Greenwich for the first “Rare Film Festival,” put on by Rare Disease UK.
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Do I Have Sleep Apnea?
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.
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New Genetic Diagnostics for CMT
Current best practice in genetic diagnosis of CMT starts with PMP22 testing. How genetic testing, nerve conduction studies and EMG lead to a diagnosis.
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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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Reading (and Writing) about Disability
Over at Electric Literature, Robert Kingett recently reviewed a bunch of literary anthologies written by, for, and about disabled people. These are essays and fictional works from the young adult genre to dystopian science fiction.
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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 sleep apnea. It’s definitely accurate relative to my own experience in the past year or so.
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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 will cover nearly all CMT Type 1s and 2s, including types with as yet unidentified genetic causes.