HNF wants to help our Inspire members get answers to questions related to Charcot-Marie-Tooth.
One topic that has been addressed is lung function and breathing issues with Charcot-Marie-Tooth. Some CMT patients have reported phrenic nerve impairment. The phrenic nerve innervates the diaphragm: the primary muscle used during the process of inhalation.
An improperly functioning phrenic nerve could lead to symptoms such as generalized weakness, exercise intolerance, sleep apnea, and postural discomfort.
Discussing these lung function issues with your medical provider is critical to getting the help you need today.
Please help other CMT’ers with your experiences.
When HNF partnered with the Inspire Community, our mission was to encourage conversations just like this one.
Visit the Inspire Community and join this conversation and many more!
Question : my only sister recently do with CMT. I have had peripheral neuropathy for 15 years as my neurologist then stated was due to my fibromyalgia. Recently I was informed my pelvic muscles were suddenly weak for no apparent reason causing pelvic instability. My oldest son has suffered from allergies and takes auto immune injections to decrease problems with asthma and COPD. Could he be having problems with phrenic nerve too and have CMT. How would his pulmonologist determine? He also snores at night, should he be evaluated for bi PAP?
Did you inherit this from your mother. And,how were you diagnosed? Thanks
I wonder if this could be my problem? I keep thinking it’s Allergies but they never seem to go away and breathing it’s hard to always worse at night. I also get panicky at night because I can’t swallow. Sometimes I have to set up and lean my head back to swallow. I’ve had CMT since I was in my early teens But didn’t get diagnosed till 2013. I’ll be 60 in October.
I am 71 years old with CMT2a. I have always had trouble sleeping. I see a lung specialist who is familiar with CMT. I have had this chronic cough for a few years now. At first they thought it was asthma because it would come and go, but only for a short time. Now it is with me 24/7 and I believe it is due to CMT. Sometimes I wake with a headache. I cough through the night. I see the pulmonologist in another month and will inquire about a bi-pap machine. What do we do during the day? Cannot travel by plane as I cough and scare my seatmates. I exercise daily. Does any one have an idea?
Hello I’m only 39 and wondering if I might be suffering from this phrenic nerve problem. Was just diagnosed with cmt this year, long family history…:( but I wake up immobilized with severe pain in the morning and cannot breathe. I’m so tired everyday. Normal weight, normal job, I exercise moderately, eat well…what’s up?? I’m so worried:(
Hi, im a 51yr old male. I have CMT1A and i have never smoked. I dont really have a breathing problem i just run out of breath quickly when doing somethings. Not smoking and staying away from smoke is vital. God Bless
I’m 70 with CMT1A. For years I would wake up with the mother of all headaches but by the end of the day it was much more tolerable. These headaches would go on day after day and if I had a few days a month with little or no pain I would celebrate. The data I read indicated that during the day we have gravity assisting the muscle that pumps our lungs but at night, laying down, when the lungs aren’t pumped efficiently a buildup of carbon dioxide can cause a headache. I did a lot of reading about phrenic nerve deterioration and had my specialist refer me for lung testing. Unfortunately the lung specialist dismissed the whole idea and told me it was in my head and refused to consider anything from the research I’d looked at. In desperation I elevated the head of my bed, added three pillows under my head and one under my chest (I have to sleep on my side) in hopes that I’d gain a little gravity assistancew and miracle of miracles I no longer have headaches. My sister who also has CMT1A has benefited as well.
I was diagnosed last year with cut. I have had problems since childhood and have more now. I will look into all the above comments. Thank you. People who know what it’s like. The trials of “it’s all in your head”. Loss of mobility, etc. I’m new to all this, although I’ve suffered the side effects for many years. All help is appreciated.
I am a 64 yr old female with a variation of CMT type II. I developed breathing problems in my late 40s and was finally put on a BIPAP in my end early 50s. This made all the difference to my life but I’m now finding in my 60s that i’m needing to use the BIPAP during the day as well as the night. Sitting in my wheelchair for any length of time causes breathlessness trying to hold myself up.
Thanks for your comments. I have been on a CPAP machine for several years . I was told that my daytime breathing issues are all in my head! (54 year old female)
I will check out these tests!
I started having severe dyspnea last April and it is now March, I am so done with doctors, I have been to the hospital twice because I was in distress and have been to 7 other Doctors and had 9 different diagnosis and was told several times it was all in my head because I don’t know how to cope with the stress of CMT, one doctor even suggested i just try to take a deep breath. So have been trying to cope with this on my own for about 6 months. I had to stop going to doctors because if just one more tells me it’s in my head I will end up behind bars. I feel for you. I have noticed how in Canada here that our healthcare has gone out the window.
Have A SNIFF Test! It will show if your phrenic nerve is affected and your diaphragm has failed on the right or left side.
I have cmt and am on a vent. Wondering if my weakness in breathing is due to cmt. I also have asthma and copd
Yes, I am a 72 year old female and have CMT1A with impairment of the phrenic nerve. During sleep my oxygen levels dropped into the high 70s. I was put on oxygen and a bipap machine to use when I sleep. I developed central apnea and required more nocturnal ventilation support. I now use a Trilogy 100 ventilator during sleep, but no longer require supplemental oxygen. During awake hours I use a second Trilogy 100 vent set to a sip and puff mode in order to completely fill my lungs with air and allow longer exhalations . This process keeps the C02 levels from becoming toxic. You may want to be evaluated by a neuropulmonologist . Best of luck to you.
I recently had a spirometry test because I am having issues with shortness of breath. I am in a pool tai-chi class wher I have to inhale slowly and then exhale slowly while doing different movements. This is extremely hard for me! Anyway, my test came up not so good. I am below normal for my age and gender. My Doctor said it is probably due to CMT1A and it is what it is. I am on oxygen at night because my oxygen goes down to 80 or lower when I’m asleep. Are there others who have any of my issues? Is there anything I can do about this?
Hi Linda, you probably should be on a Bipap machine, it pushes air into your lungs and at a higher pressure then backs of to a low pressure so you can breathe out, it’s supposed to be better than oxygen as it helps you breathe, I am on a Bipap because my Phrenic nerves are affected, you will need a sleep study to get one, but it has made a huge difference to me…
I have had numerous tests but not a CT with dye since I had one a year ago, had a d dimer that was negative but I have burning sensation in my left chest front and back
and left gland, docyclopene didn’t help is it my CMT1A has anyone else had this?
I agree. I use a bipap with oxygen. Plz talk to ur doctor ASAP. This condition can be life-threatening.
And oxygen could be making it worse. Typically it’s more about exhaling muscles for us CMTers which causes CO2 buildup. See a neuromuscular pulmonologist. Ask for a sleep study.
I also have CMT related phrenic nerve damage. I must use a TRILOGY 100 VENT. Consult a NEUROPULMONOLOGIST ASAP. IT COULD MEAN YOUR LIFE IS IN JEOPARDY!