Pompe Disease and Sleep
Pompe disease is a rare, progressive, neuromuscular genetic disorder characterized by muscle damage and weakness. Fatigue, excessive daytime sleepiness, and sleep disturbances are common, especially in the late-onset form of the disease.
How Pompe disease may affect sleep
As Pompe disease progresses, the abnormal buildup of glycogen — sugar molecules inside cells — leads to damage and weakness in organs, muscles and tissue. When this happens in the muscles that play a role in breathing, patients begin to lose respiratory function.
The first sign of this weakness often is sleep-disordered breathing, either as shallow breathing due to weakness in the diaphragm or obstructive sleep apnea (OSA). OSA can occur in Pompe disease patients with larger tongues (macroglossia) or with potential upper airway collapse due to low muscle tone.
Patients with sleep-disordered breathing often experience excessive daytime sleepiness and fatigue due to sleep disruptions.
Patients with Pompe disease and possible sleep-disordered breathing will often undergo polysomnography, a test in which physicians monitor a patient’s breathing, brain waves, oxygen level, heart rate, and movements during sleep.
As with patients in the general population, doctors treat many sleep disorders with positive airway pressure therapy, a type of non-invasive ventilation. During the treatment, patients wear a mask, which provides increased air pressure to help keep the airways open and prevent OSA. The mask also helps increase the volume of air in the lungs and the amount of oxygen in the blood.
For sleep disturbances due to stress or depression, physicians might recommend consultation with a therapist. The therapist may be able to teach the patient strategies to deal with these feelings and promote self-care.
Last updated: Dec. 1, 2020
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