CMT Blog

Dan Knauss
Dan Knauss
@danknauss@cmt.blog

☔ “It is raining over the mountains, let us work together today so that the flood may not overwhelm us tomorrow.” 🌊

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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.

  • The Hope Mission

    I just have a new poem to share today.

  • Diagnostic Pathways for Idiopathic Neuropathy

    “You have a serious illness of an undisclosed nature.”

  • 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 Demyelinating Polyradiculoneuropathy (CIDP). CIDP can look like CMT cases where demyelination is prominent, usually Type 1/1A. In one international study of more than 1,100 people…

  • There is no such thing as standing, there is only being held up.

    Friends reminded me of this great passage from a letter of Franz Rosenzweig to his sister: You know, you needn’t feel bad because you lack the power to ‘tell yourself the whole truth’, for once, for your own good. Believe me, no-one has this power; no-one can help themselves. Though the world is full of…

  • 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 struggles impacting our quality of daily life.

  • 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.

  • 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 diagnostic path that was only vaguely hinted at by the human diagnosticians.

  • 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.

  • 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.

  • 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?

  • 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…

  • 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.

  • Physical Assessments for CMT

    There are several validated assessment instruments for CMT to take stock of its current and later states of progression.

  • 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…

  • What does it mean to consider yourself disabled?

    Many of us can say both yes and no, feeling both as true and false.

  • 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.”

  • 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?

  • 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…

  • 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…

  • 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?

  • 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.

  • CMT Blogs of Note

    Two blogs about CMT I found recently: the MFN2 Project and Help Chronic Pain in Alberta.

  • CMT’s Impact on Respiration

    Many people with CMT report having problems with breathing.

  • 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 about how the research team came together.

  • 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.

  • CMT Research and Support Organizations in Canada

    There are not a lot of Canadian groups and resources organized for people with CMT. How can we build this community?

  • CMT and COVID-19

    The Inherited Neuropathy Consortium (INC) is asking for CMTers with a COVID diagnosis to take an anonymous questionnaire.

  • 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…

  • 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).

  • 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.

  • 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.

  • 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…

  • 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…

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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 subtypes who waited a long time to get properly diagnosed — sometimes after many years of wrong diagnoses or none at all. Today the best…

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.