Today I updated my last post with some new research I found, including this 2015 study of an extended family with CMT2.
The authors concluded:
The results of this study show 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.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
Basically, it seems that 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. Better to recognize the symptoms and treat them early.
I also connected on Facebook with some really smart, informed, helpful people people in the CMT US group whose lead administrator, Angela Graham, has a great spreadsheet of medical journal articles on CMT and respiratory issues in their file-sharing area.
Angela also shared this helpful CMTA presentation — “CMT and Breathing” — by Kristina Zekos-Ortiz of the Stanford University hospital multidisciplinary clinic’s neuromuscular program:
It sounds like researchers are slowly realizing CMT has progressive respiratory impacts on several fronts: the diaphragm, larynx, muscle-bone irregularities in the rib cage and chest cavity.
Several people farther down the road with advanced symptoms say the risk of excessive carbon-dioxide accumulation is real.
I am still trying to get a better grasp of how sleep apnea might interact with CMT-related respiratory dysfunction — and the whole confusing situation with assistive breathing devices and their various features — but the FB folks were helpful with that today too. Definitely a subject for a future post.
How has CMT affected your breathing? Have you found a benefit in assistive nighttime technologies?
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