I'm All Choked Up...
Updated: Jan 18
The Mystery Behind Charcot Marie Tooth Disease Related Swallowing and Choking Issues Revealed
It’s no secret that swallowing problems can occur with CMT. Swallowing issues aren’t guaranteed to develop from CMT, but when they do, there are typically several factors and variables contributing to the problem.
The medical term for swallowing issues is, “dysphagia.” It’s a blanket term used to describe all swallowing difficulties. The term is descript insofar as it describes a medical presentation, but the term does not describe the many possible processes involved in causing the dysphagia.
When dysphagia is present, it’s critically important to find out what’s causing it. Even though CMT can cause dysphagia, a CMTer can also develop everything else that can cause dysphagia. If a physician uses the CMT as a go-to because of the known diagnosis, the physician is doing a disservice. There could be underlying conditions causing the dysphagia that are treatable and manageable.
A very common ailment/condition that can cause dysphagia is GERD, or chronic acid reflux. It can also be easily managed with meds and/or diet changes. If acid is chronically backing up, the throat tissues become irritated and inflamed. This can cause a restriction that, in turn, causes dysphagia. If the reflux is bad enough, it can cause voice issues, and even breathing issues. If the reflux gets brought under control, these things clear up. Now, what if I told you that chronic acid reflux can be a component of CMT?
CMT can affect the diaphragm. CMT can affect the diaphragm by affecting the phrenic nerve. The phrenic nerve is what controls the diaphragm. When the phrenic nerve is affected, the diaphragm weakens. The diaphragm can become paralyzed as well.
The diaphragm is the primary muscle for breathing. A secondary function of the diaphragm is to help keep closed the valve at the top of the stomach. When the left hemisphere of the diaphragm is weakened or paralyzed, that valve doesn’t get the adequate assist that it needs to stay fully closed. This allows for chronic acid reflux. When CMT has caused diaphragm weakness or paralysis, chronic acid reflux can then be caused as a tertiary condition.
I have a weakened diaphragm that is caused by my CMT. As a result, a bunch of respiratory accessory muscles undergo what’s referred to as compensatory activation. They do this to try to compensate for the weakened diaphragm. My throat muscles are part of this activation. They experience fatiguability and fatiguable weakness from trying to function as respiratory muscles. When this happens, they get too tired to also do their normal function of actuating and effectuating a swallow. I also have chronic acid reflux, because of CMT, adding to my dysphagia. Another CMT caused issue that can cause or contribute to dysphagia is atrophy of the tongue.
The tongue is instrumental in swallowing. When the tongue atrophies, its function can be impaired. When the tongue is atrophied, throat muscles can also atrophy and weaken. This can lead to dysphagia, or it can contribute to the worsening of dysphagia.
How CMT can cause dysphagia is diverse. The exact mechanisms are many. There are several variables at play. It is critically important for your physician to perform intrinsic root cause analysis to properly diagnose what is causing the dysphagia. Sometimes, if not the intrinsic root cause, contributing factors can be easily treated and well managed, thereby leading to an overall improvement in dysphagia.
A word of caution from my own experience. I had a swallow test done. The swallow test was done in the morning. The results were that all was well and that all was working fine. My issues persisted though. Three months later, I landed at a neuromuscular ENT who was well versed in CMT. She identified the fatiguability and fatiguable weakness in my throat muscles, and it’s her opinion that that is the primary cause of my dysphagia. She explained that swallow tests in CMT almost always come back normal. She explained that they come back normal because of the controlled environment that they are performed in, and they don’t account or allow for real-world muscle use.
My advice, if you’re dealing with dysphagia, is to push your physician to get to the root cause. The bottom-line cause may not be the CMT. However, the CMT can be the cause, but not in a straightforward, easy to capture manner. If part of the dysphagia diagnostic journey includes a swallow test, and the dysphagia is ultimately caused by your CMT, be prepared for it to come back normal, and proactively have the conversation about that with your physician. CMT takes a team approach. The most important member of the team is you, the CMTer.