CMT and Respiratory Dysfunction

I ran across an interesting 2015 pulmonary (lung) study of a large family with CMT2 in their gene pool. Its results showed that:

…patients with CMT, in spite of not showing clinical signs of advanced respiratory impairment, may present subclinical respiratory changes. The respiratory comprise in the CMT disease can be silent and insidious without presenting characteristic clinical signals.

— Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2

Eighteen of the people in this extended family network from ages 11 to 79 had been diagnosed with CMT2, but 20 others were also included in a battery of standard lung and breathing tests to measure how much air they could inhale and exhale.

The researchers were also taking note of the degree of disability of the people with CMT by using the CMT neuropathy score (CMTNS). CMTNS produces a score between 0 and 36 to indicate the level of physical impairment. This group had scores ranging from 6 to 26. (I’m not sure why CMTNS was used for a CMT2 family since it’s designed for CMT1A and best suited for moderate to severe cases, but it does work as a basic assessment.)

In the overall results, there were significant correlations between the CMTNS severity and a person’s inhale and exhale capacity. More advanced CMT = more impaired breathing.

This study is quite interesting and important! Science is starting to confirm very wide ranging effects for the nerve damage CMT does, often slowly and over time so it may not be very noticeable for many years.

A brand new study found the cranial nerves are damaged in about a fifth of people who have hereditary neuropathies. Who knows what they will find next? Many people with CMT have long complained of respiratory issues. Several different nerve branches are involved with breathing, speaking, and swallowing.

CMT’s Impact on Breathing

Do you think CMT might be impairing your breathing?

If you think you may have problems with your lungs or breathing, here are some things other CMTers have suggested to help!

The following list is adapted from one supplied on the CMT and US Facebook group by its ever-helpful leader, Angela Graham. ❤️🙏🏻

Diagnostic Testing:

  • Ask your doctor for Pulmonary Function Tests and request that your maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) be tested twice — once while you are sitting and once while you are lying down. (Nerve damage impacting the diaphragm can make it harder to breather from a prone position.)
  • Get a Sleep Study, and if you find you have sleep apnea, use a C-Pap, Bi-Pap, AVAP, or Ventilator device, whichever is appropriate for you.
  • If you have symptoms of hypercapnia/hypercarbia, ask your doctor for an Arterial Blood Gas test to see how much carbon dioxide is in your arteries as they leave the lungs.
  • A chest x-ray can reveal a diaphragms raised due to weakness or paralysis.

Simple Life Changes:

  • Sleep on an incline by using a wedge pillow or with the head of your bed elevated slightly.
  • Eat smaller meals and stop eating well before sleeping.
  • Learn techniques for better breathing and coughing.
  • Breathing exercises (e.g. Bubble PEP therapy, Incentive Spirometer therapy, or playing a musical instrument like a harmonica, etc.)
  • Do core strengthening exercises.
  • Take CoQ10 supplements.
  • Be cautious with pain medications that can affect breathing, like dopaminergic agents.
  • Maintain a healthy weight.
  • Stay as active as possible.

Please note that this is NOT a prescription or medical advice. This is just a list of ideas you may want to discuss with your doctor if you feel it’s appropriate for your situation. You or your healthcare providers may have other (better) ideas for your specific situation. If so, please share them with us. Please follow the advice of your physician.

Dan Knauss

Dan Knauss

Hi, this is my CMT blog, and I wrote this article. You can read about me and my CMT story. Get in touch if you’d like; I’m always happy to answer questions about CMT and the medical system.

2 responses to “CMT and Respiratory Dysfunction”

  1. It’s great that you mentioned the CMTNS in the article. In all of my years of being scored with this set of metrics, there has yet to be any metric related to respiratory impairment, or the possibility of such. The scoring system has been revised several times over the years. My first one was scored in 2003. My last was 2019. The 2019 set of metrics is significantly different than the 2003 version. However, nothing about respiratory impairment.

    With researchers being able to now correlate respiratory impairment with CMTNS scores, I’m hoping that the metrics can be updated soon to reflect the growing, albeit slowly, recognition of respiratory involvement in CMT.

  2. I have a draft in the bin about CMTNS (now in version 2.0 I think) and other physical diagnostic inventories. They each have limitations and should be more publicly accessible.

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