Charcot-Marie-Tooth (CMT) disease is the most common family of inherited peripheral neuropathies, affecting from 18 to 31 people per 100,000 globally, depending on the age group, gender, and region.¹ Despite its prevalence, CMT is not well-known (compared to other types of neuropathy) outside of a few research hubs in the United States and Europe.

Today, with genetic-based diagnosis and disease classification, CMT’s nineteenth-century name and types are due for a rethink. It’s a matter of time before “CMT” is eclipsed by descriptive, medically meaningful terms like Hereditary Motor/Sensory Neuropathy (HMSN) and genetically-identified types. As of 2016, most participants in the International Charcot-Marie-Tooth and Related Neuropathy Consortium believe the old CMT classifications need to be changed.

Magy et al.

CMT covers a broad range of neuromuscular diseases (NMDs) — and in the outlier case of SORD disorder, an enzyme deficiency leading to a disorder with CMT-like effects and symptoms that are reversible.²

Today, with genetic-based diagnosis and disease classification, CMT’s nineteenth-century name and types are due for a rethink. It’s a matter of time before “CMT” is eclipsed by descriptive, medically meaningful terms like Hereditary Motor/Sensory Neuropathy (HMSN) and genetically-identified types. As of 2016, most participants in the International Charcot-Marie-Tooth and Related Neuropathy Consortium believe the old CMT classifications need to be changed.³

What it’s like to have CMT/HMSN

What a disease is to scientists and doctors is very different from what it is like to have that disease yourself and the disabilities it may bring. CMT Blog exists to do something unique: address both the medical science and the lived reality of the disease.

The same disease may express itself very differently from person to person, even within the same family. However, a simple, layman’s description of CMT/HMSN that fits the most common cases is that it’s the progressive degradation and loss of motor nerve function in the upper and/or lower extremities.

What most people diagnosed with CMT experience acutely are the musculoskeletal effects of their long nerves failing in their arms and/or legs — specifically the withering of the muscles connected to those nerves. Nerve signals are delayed and partially (or entirely) lost on their way to the ankles, feet, and toes, and/or the wrists, hands, and fingers. Muscle tissue weakens and dies as a result. The damage is progressive and may vary from mild to moderate or severe. A common deformity is “CMT foot” or pes cavus, which tends to bring all kinds of progressively more crippling and painful outcomes.

Most expressions of the disease are not immediately debilitating and do not shorten life expectancy. But some do.

Bones may develop improperly and weaken as well. Stiffness and joint pain are chronic. Over time, stress shifts to other parts of the body that are compensating. Knees, hips, and backs will commonly develop additional pains and problems thanks to the foot-ankle-calf failures. Tripping and falling may become a common danger. Hands and fingers may lose dexterity and the ability to perform basic tasks. The ability to walk is gradually diminished and sometimes lost. The ability to walk without pain disappears quickly.

The nerve damage actually happens throughout the body, but it’s the longest nerves that are most noticeably affected first. New research indicates respiration, pulmonary, and even cognitive functions can also be impaired to varying degrees with some forms of CMT.⁴ Several recent studies show CMT can involve and impact the brain in many ways. CMTers often report brain fog, and studies have shown that the conscious mental effort needed to recruit muscle and maintain balance may be connected to fatigue.⁵ From the patient’s standpoint, most will say of course CMT causes fatigue — it’s a basic part of their experience.

There are a number of broader system comorbidities associated with CMT like sleep apnea and depression. And of course there are knock-on social effects, like the stigma of not only having a disease but having one that is commonly invisible to others, especially in the mild and moderate cases during the first half of one’s life. Other people may perceive something is “off” in a CMTer and blame them for being clumsy, distracted, slow, or irritable — as if it’s a chosen personal defect.

It’s not possible, necessary, or even helpful to constantly explain yourself – especially to willfully insensitive people. You might be accused of being lazy, slow, or unworthy of special accommodations. You might be questioned or abused for having a handicapped parking privilege but not being wheelchair-bound. I’ve thought of keeping images of my feet and legs with me to show people who need to be shamed out of their inability to imagine non-stereotypical forms of disability that diminish but do not destroy mobility.

Since the pandemic, I’ve become fascinated with these real but hidden struggles people have with a disability that can be hidden — because there are costs and benefits to playing the “passing as normal” game. You gaslight yourself to protect yourself from the prejudices of others and the downsides of being the “identified patient.” Who wants to be a “victim” competing in toxic “Disability Olympics” for the title of most disadvantaged or most deserving of pity? There’s a lot to be said for putting your disease aside as much as possible and getting on with life. At the same time, one out of four people experiences chronic pain. How can we become more sympathetic as a society and less quick to launch blame and “shoulds” without raising awareness?

Why CMT goes undiagnosed and may be intentionally hidden as a disease and disability

While genetic research since the 1990s has revolutionized the diagnosis of CMT, CMT still goes undiagnosed in many individuals and families. Finding the best ways to deal with its physical, emotional, and social/relationship effects can be a daunting and lonely process, especially when resources and supports are lacking.

“Being able to walk pain-free is a blessing. Being able to walk without showing the pain is a skill.”

— Kylie McPherson (@kylieeemac)

I never knew “what was wrong with me” until I was in my early 40s. I tried to ignore it from my teens onward, but I always felt as if the lower half of my body was 10-15 years older than the rest. Thanks to people with CMT sharing photos of their legs and feet online, I started down the path of partial diagnosis and more informed coping. When my partner encountered foot photos shared by people with CMT on Facebook, we finally matched the symptoms to their cause. I didn’t even understand it was a neurological issue until then.

The most read posts on CMT Blog:

Crip Time, or “cripping”/thinking about time from a disability perspective.

What happened when I gave ChatGPT all my medical test results and asked for diagnosis.

SIIT and CMT — how sub-maximal intensity interval training can help people with neuromuscular disseases.

All types of CMT are “Axonal”

The “First Treatable CMT Disease” is Neither CMT Nor a Disease

Sleep Apnea and CMT

CMT and Respiratory Dysfunction

Disease, Depression, and Family Denial

Since that time I’ve learned that non-diagnosis is common, probably due to social stigmas more than anything else in cultures where the medical science is available. Of course lack of access to medical care may be part of the story too. When I lived in the United States, my family and I rarely had medical insurance and never very good coverage. I didn’t get a full diagnosis and support until I moved to Canada. That was partly because of the lack of public health care in the US, and partly because of the cultures my partner and I grew up and lived in for most of our lives. Our parents and extended families encouraged denial of pain, need, and certainly disability. As a young man, I was told by the dominant women of my family that I didn’t have a problem, and significant deformities that make doctors recommend surgery were merely a case of “hammer toes.”

My parents and grandparents who might have expressed milder symptoms are no longer living and never would have opened up to genetic testing or probing questions. They were also people, and people lie, even to themselves. It would not surprise me at all if others in my family had CMT-like symptoms and hid them. Family denial was strong enough about my own symptoms that even I could not believe in them, even though I could feel them. We called what I had “high arches.” (It is more than “high arches.”)

As a teenager, I was pushed to compete in track and cross-country — and even to pursue a military career — despite the pain, stiffness, visible muscle loss, and deformities to my feet and ankles. An army doctor broke through the denial in my early 20s by pointing out my toes don’t touch the ground. At least I could quit running then! I was still pushed into running later by my ex-spouse and found fitness groups generally challenging because they could not see and understand what was going on as my balance got worse, my knees started buckling on slopes and stairs, and my hips and back started to object to the extra work they were doing carrying my lower legs.

The reality of disease versus competitive victim identity politics and fundraisers who want “Barbies” and “Warriors”

Life is especially complicated when your disease and disability can be hidden. Young men and women with CMT are encouraged to compensate with athleticism that can be injurious. Young women with CMT may be encouraged to hide affected limbs and compete in beauty pageants. I’ve heard many personal stories like this.

If CMT is new to you, this video from Muscular Dystrophy UK makes a good introduction. Holly Waters describes what it was like to grow up in the United States with a moderately severe case of CMT in the 1970s and 1980s. In Canada, the Russell family describes their multi-generational experience with CMT. 📺

Sadly, organizations like the American CMTA market themselves with images and stories of “CMT Barbies” and “CMT Warriors.” After decades of outstanding work supporting medical research from the 1980s to the 2000s, the CMTA began pimping disease and disability in the Ugly American style.

Since the pandemic, I’ve become fascinated with the real struggles people have with a disability that can be hidden — because there are costs and benefits to playing this game. You gaslight yourself to protect yourself from the prejudices of others and the downsides of being the “identified patient.” Who wants to be a “victim” competing in toxic “Disability Olympics” for the title of most disadvantaged or most deserving of pity? There’s a lot to be said for putting your disease aside as much as possible and getting on with life.

This is really the last thing people need to be concerned with — body image and how they compare to others — when they are dealing with disability, disease, and aging. If you attend a typical gathering of CMT-diagnosed people, the average age will tend toward the 60s. That is when the symptoms, diagnoses, and support needs tick up significantly. A person who is mature in age and character doesn’t need any “CMT Barbie” or “Warrior” nonsense. They probably laugh it off and move on. Younger people are more prone to being hurt, misled, and let down. Both are poorly served by advocates who cater to denial of the reality of the disease and the delusion it’s a dragon we can kill or overcome with cosmetics.

The CMTA and other disability communities have intensely online components thanks to the rise of Facebook and the COVID-19 pandemic. The internet can be a tool for communication and connection, but the toxic effects of social media and platforms like Facebook are well documented now, especially in connection with young, disabled, and other potentially vulnerable people.⁶

Depression commonly accompanies CMT and any disease or disability without healthy supports. It also constellates with young people and high social media use. Where there is more depression there are also more deaths of despair from addiction, overdose, and suicide. From the people I’ve met and corresponded with about CMT, they and their families have often suffered in these ways and know the risks are real.

These are some of the realities of our bodies and lives that charities and fundraisers for CMT and neuromuscular disease research do not want to face. Philanthropy can be great, but it can also reflect the blindness of the affluent and their comfortable lives. In the CMT advocacy community it’s common to de-emphasize the primary importance of what any CMTer can do to help themselves — and what they can do together — to cope with their disease and disability now. Pragmatic needs are eclipsed by the drive to sell the distant and likely chimerical dream of a magical, silver bullet type of cure.

I can say more, and I will in a future series about the CMTA’s toxic qualities, amateur experts, and medical misinformation. This is not a blog that exists solely to criticize the CMTA’s mistakes, however. I started writing about CMT back in 2019 partly because CMT advocacy organizations were new to me and publishing a lot of information I wanted to process and verify. I was encouraged to share what I was learning and dig deeper.

As time passed and I learned more, several things alarmed me about non-profits like the CMTA that claim to speak for a diverse community with their Barbie and Warrior poster children while competing with other organizations for attention and funding. In their rush to secure attention and funding, superficial images and empty promises have become more important than substance in support and science. After years of letting it go and tuning out, I see nothing has improved, and maybe nothing will until pointed criticism is aired and the facts stick. As of 2025, the small amount of time I have to give to this blog will start to include more exposés of activity that’s a disservice to CMTers all over the world.

My CMT/NMD/HMSN journey

If you’re curious about the technical details, I was clinically diagnosed with an axonal or a “mixed” type of “Charcot-Marie Tooth” disease by the old classifications without a clear subtype. Later, genetic genetic analysis and my own studies led me to follow contemporary medical research trends and prefer the terms “Distal Hereditary Motor Neuropathy (dHMN),” or “Hereditary Motor/Sensory Neuropathy (HMSN).” That happened well after the time I started and named this blog. Today I’ll usually refer to “NMD” or “CMT/NMD,” following the contemporary practice of Muscular Dystrophy Canada.

Not all neuropathies are hereditary. Spontaneous de novo mutations can emerge in individuals out of nowhere. If they pass them on, then it becomes inherited.

Without a broader family genetic analysis, whatever I have seems not to be inherited. The term for this is “idiopathic.” But as I mentioned before, it would not shock me if a parent or grandparent lived and died hiding a stigmatized medical issue. Several of them were hiding significant psychological issues. Between economic depressions, wars, and tough immigration experiences, injuries and hidden pain were par for the course in my American family.

I still don’t really know “what is wrong with me” because the more I have learned and progressed with diagnosis, the more I have realized how much isn’t known about CMT/NMDs. It’s unhelpful and confusing, non-descriptive name is a throwback to almost two centuries ago when diseases were named for the physicians credited with their “discovery.” (Thanks to Dr. Tooth, now a lot of people think its a dental disease.)

All of this is why I’m interested in promoting awareness and connecting with people in Canada who may have similar stories. 🇨🇦 (I live in Edmonton, Alberta.) Outside of the Greater Toronto Area, I’ve found little support and knowledge about CMT in Canada, even among doctors, physiotherapists, and orthotists — but this is changing. The Calgary Neuropathy Association has some really great people you should look up if you’re in that area, including many folks who have and are familiar with CMT and other NMDs. I keep an updated list of Canadian CMT Resources and will be happy to learn of new organizations to add if you know of any.

If you found my blog because you or a family member are dealing with CMT, you are welcome to leave me any questions, comments, or feedback you may have. 💬

Notes and Citations

1. Many organizations and online sources understate the incidence of the disease based on obsolete and incomplete data. See Ma M, Li Y, Dai S, Chu M, Sun L, Liu L, Zhou JC. A meta-analysis on the prevalence of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. J Neurol. 2023 May;270(5):2468-2482. doi: 10.1007/s00415-023-11559-8. Epub 2023 Jan 11. PMID: 36631678. ↩︎
2. The first treatable “CMT disease” CMT-SORD is actually misclasssified for marketing purposes by the CMTA. It’s not CMT or a disease. How this deliberate misclassification came about illustrates why the old CMT Type classifications are obsolete, unhelpful, and obstructive for patients, clinicians, and medical researchers. ↩︎
3. Magy L, Mathis S, Le Masson G, Goizet C, Tazir M, Vallat JM. Updating the classification of inherited neuropathies: Results of an international survey. Neurology. 2018 Mar 6; 90(10):e870-e876. doi: 10.1212/WNL.0000000000005074. Epub 2018 Feb 2. PMID: 29429969. ↩︎
4. Garcez C, A, Neves E, L, A, Melo S, M, A, Nunes P, S, Barreto L, C, L, Costa I, M, P, Souza C, C, Rezende R, L, Araújo A, A, S: Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2. Eur Neurol 2015;74:310-314. doi: 10.1159/000442282 and Kasselimis D, Karadima G, Angelopoulou G, et al. Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease. Journal of the International Neuropsychological Society. 2020;26(3):294-302. doi:10.1017/S1355617719001188 ↩︎
5. Menotti F, Berchicci M, Di Russo F, Damiani A, Vitelli S, Macaluso A. The role of the prefrontal cortex in the development of muscle fatigue in Charcot-Marie-Tooth 1A patients. Neuromuscul Disord. 2014 Jun;24(6):516-23. doi: 10.1016/j.nmd.2014.03.010. Epub 2014 Mar 28. PMID: 24792521. ↩︎
6. Stangl FJ, Riedl R, Kiemeswenger R, Montag C. Negative psychological and physiological effects of social networking site use: The example of Facebook. Front Psychol. 2023 Aug 3;14:1141663. doi: 10.3389/fpsyg.2023.1141663. PMID: 37599719; PMCID: PMC10435997. ↩︎

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