Charcot-Marie-Tooth (CMT) disease is the name given to a group of neurological disorders that affect the peripheral nervous system. The peripheral nerves are those that carry electrical signals from the brain to the muscles to control movement and sensory information from the rest of the body to the brain. The damage caused by the disease to these nerves leads to muscle weakness and decreased sensation.

Symptoms vary in severity from person to person, and some patients may experience respiratory muscle weakness as a result of the disease, which can affect their ability to breathe. This can be especially dangerous because not all physicians know that CMT can cause breathing problems.

How CMT affects breathing

The phrenic nerve, which controls the diaphragm muscle, can be affected by CMT. This is a rare complication, but it can be life-threatening when it occurs. Essentially, only half of the diaphragm moves when CMT patients breathe, meaning they are not getting a complete lungful of air. Patients may feel short of breath or have headaches, especially first thing in the morning.

Sleep apnea

CMT patients may also develop sleep apnea — long pauses in breathing during sleep. This can be caused by obstructions in the upper airway, which is sometimes associated with the disease, though the exact cause is not known. Patients with sleep apnea may feel groggy and tired, even after a full night’s sleep.

Vocal cord paralysis

Some patients, particularly those with CMT type 2A or CMT type 4A, can have paralysis in their vocal cords. This can make it difficult for them to speak loudly, and can also cause shortness of breath.

Diagnosing lung problems in CMT

Patients who suspect they may have CMT-related breathing problems should talk to their physician about referring them to a cardiopulmonary specialist for a sleep study.

Physicians can also perform a pulmonary function test, which measures the maximum inspiratory and expiratory pressures. This test should be performed both while the patient is sitting and lying down, since lying down can make breathing problems more apparent in CMT patients.

An ear, nose, and throat specialist may be able to diagnose vocal cord paralysis.

Treatment

There are treatments and devices that can help patients who are having difficulty breathing. Some patients may need extra oxygen at night, while others may be able to use a sleep aid, such as a continuous positive airway pressure (CPAP) machine, which uses air pressure to keep the airway from closing during sleep.

Patients with vocal cord paralysis can sometimes be treated with a surgical procedure called a tracheostomy.

It is important for CMT patients to get their flu shots and treat respiratory infections aggressively.

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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.