Unraveling the Gordian knot of sleep issues and CMT health
A poor night of rest carries many avenues of implications with this disease
Note: This column was corrected Aug. 7, 2025, to correct that Kenny Raymond is head of communications at Charcot-Marie-Tooth Association.
You might’ve noticed that it’s difficult to perform or feel your best without a restful night’s sleep. In fact, it’s fairly well-documented that poor sleep is bad for your health and comes with some pretty serious risk factors. Folks who don’t sleep well may be at higher risk of Alzheimer’s disease, strokes, heart disease, and pulmonary hypertension. These are certainly serious concerns, but until recently, I hadn’t paid any attention to them.
As someone with Charcot-Marie-Tooth disease (CMT), I’ve understood for most of my life the importance of monitoring the progression of my CMT symptoms. Yet as I’ve grown and learned more about my disease and its effects, I view my health more broadly and holistically. Recently, that’s included taking a second glance at my breathing and sleep.
My newfound focus on these two things began after researchers found increasing evidence that CMT can sometimes result in neuromuscular weaknesses, which can manifest in shallow breathing, obstructive sleep apnea (OSA, typically caused by throat tissue in a relaxed airway), and central sleep apnea (CSA, when the brain doesn’t tell the lungs to breathe). While that’s all concerning in and of itself, a secondary thought wormed its way into my head: If CMT can increase the chances that I may experience breathing problems, including OSA and CSA, do I and other CMTers need to worry about those conditions as well?
Calling in an expert
To prevent myself from catastrophizing from this thought, I reached out to Kenneth Raymond, who’s the founder of Experts in CMT, head of communications for the Charcot-Marie-Tooth Association, and a published expert in CMT-related respiratory problems.
During our phone conversation, Raymond told me my concerns weren’t unfounded, but also sympathized with my desire to not always assume the worst; not everything that can go wrong will go wrong, he said. Not all the potential negative results of chronic poor sleep and breathing are the direct effects of CMT; at most, they’re potentially tertiary effects.
“It’s not necessarily the case that CMT causes pulmonary hypertension, for example,” Raymond said. “CMT, by itself, is not going to cause pulmonary hypertension; we know this. But we are at a higher potential risk of OSA than the general public, so then stuff like pulmonary hypertension becomes something to consider.”
Problems with sleep and CMT are a bit like a Gordian knot, Raymond said.
“Sleep itself is so critically important to overall health,” he noted. “And maintaining overall health is so critical to maintaining overall neuromuscular disease health. They are inextricably linked together. And one absolutely impacts the other. If you’re getting poor sleep, your overall health is going to suffer, your rare disease is going to worsen, which is going to impact your overall health, which is going to impact your sleep.”
So it’s true that the link between poor sleep and some CMT symptoms can form a cycle, with each health problem spurring on the other. That can spiral into toppling our equilibrium, the balance between all of our body’s various interdependent systems.
But what can we CMTers each do with this information? I don’t believe despair or fatalism are appropriate responses.
Raymond, who experiences problems with sleep, OSA, and CSA, tries to channel his energy into being proactive. When it comes to breathing and sleep, Raymond tries to maintain good sleep hygiene. And after consulting with his healthcare team, he began using an iVAPS (intelligent volume-assured pressure support) machine to help with his breathing and sleep apnea.
Raymond has also found some benefit in the Wim Hof breathing method, an intentional breathing practice Raymond appreciates for its capacity to exercise his respiratory muscles in their full range of motion.
Raymond’s biggest piece of advice, however, is to consider each of our own experiences with CMT, sleep, and breathing; to listen to our body and seek help when we notice something amiss.
“For anyone who doesn’t wake up feeling refreshed, talk to your doctor about it and don’t take ‘no’ for an answer,” Raymond said.
Note: Charcot-Marie-Tooth News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Charcot-Marie-Tooth News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Charcot-Marie-Tooth.
About the Author
cliff Love
Hello, Issues with snoring caused me to consult with the sleep specialist. Following the definite diagnosis of SleepApnea, I was introduced to the CPAP MACHINE. After adjusting to the comfortable nostril mask , my sleep has improved significantly. I call the CPAP my DREAM MACHINE! Great restful nights with incredible dreams! Hope you can benefit from this… c
Kenalea Johnson
I have had breathing problems for many years. I am now 83 years old and a genetic test diagnosed CMT for me about 10 years ago. I have SPG11 and DST genes involved in my system. I had already been on a CPAP for about 3 years and then on Bipap for 8 years before I was diagnosed with CMT.
I have a question that is connected to respiratory difficulty and wonder if anyone else with similar CMT gene involvement has experienced any healing and blood problems after Chemotherapy. I also experienced severe breathing problems and am wondering what is known about the changes that Chemotherapy, Docetaxel + Carboplatin, to breathing and blood problems may have been observed.
My history is that I had the first dose of chemo in December 2020 and in 4 days was hospitalized with severe breathing problems, neutropenia, severe diverticulitis infection and blood infection. I was in the hospital for 2 weeks and sent home with portable vent. I had surgery, in February, 2021, in one breast for Cancer and then Radiation in March 2021.
Prior to the cancer appearance in December 2020, I had had a complete knee replacement and in July 2020 had been determined to be completely healed and could return to work.
However, in mid-April 2021, my complete incision in the knee, which had been completely healed since July 2020, burst open and bled profusely. The site had to be repaired. This happened two more times by end of May, 2021, when the surgeon repaired again and put me in full leg cast for a month.
Knee has not given me any problems since that.
However now I am again experiencing cancer. I had double mastectomy and tubes were left in. Expected time to have the tubes in was expected to be 2 weeks and the sign for being able to have the tubes removed because the drainage would be less than 20ml a day for 2 days in a row. I am now pushing 4 weeks and drainage is looking like the fluid that the knee wound exuded after the first bleeding had happened. It is red orange clearish fluid and I am finally down to 50ml drainage each day.
Having read the great information above, I just hope that there is some way of understanding the problem. I do not find that there are many specialists who have any idea of CMT. Even looking for scholarly articles is bringing only a few snippets of how CMT effects breathing and bleeding, etc..
Thank for your patience if you have read all this. I do apologize but think that trying to tell just a bit of the story was not giving the real picture. I am tolerating the problems but seeking problems.
Thank you
Kenalea Johnson
Greg
I went to the doctor for an annoying rattle in my breathing when I was laying in bed. That led an eventual sleep study that showed I have OSA and some CSA., which was weird because I had zero symptoms and always felt great. Got a CPAP machine and my life has turned south ever since. It was miserable. Moved to a BiPAP machine and it is a little better but it is no picnic. Breathing test results were not great. And now I am sometimes short of breath doing basic things like bending down to pull a few errant weeds. I guess this is CMT1A’s gift to me. I will look into the iVAPS as a potential solution.