Department of Neurology, Duke University Medical Center, DUMC 3824, Durham 27710, NC, United States.
Department of Neurology, Duke University Medical Center, DUMC 3824, Durham 27710, NC, United States.
Neuromuscul Disord. 2020 Apr;30(4):329-330. doi: 10.1016/j.nmd.2020.02.004. Epub 2020 Feb 12.
Obstructive sleep apnea is a common complication of Pompe disease. Treatment for obstructive sleep apnea in patients with Pompe disease is similar to treatment in the general population, typically involving positive airway pressure therapy. We present a case in which a patient with late-onset Pompe disease was able to discontinue positive airway pressure therapy after treatment with enzyme replacement therapy for his Pompe disease. It is likely that an improvement in muscle tone from the enzyme replacement therapy was sufficient to eliminate his obstructive sleep apnea. Pharmacological therapies for obstructive sleep apnea are lacking but could apply to certain populations, such as Pompe disease.
阻塞性睡眠呼吸暂停是庞贝病的常见并发症。庞贝病患者阻塞性睡眠呼吸暂停的治疗与普通人群相似，通常包括气道正压治疗。我们报告了一例迟发性庞贝病患者，在接受酶替代疗法治疗后，能够停止气道正压治疗。酶替代疗法改善肌肉张力可能足以消除他的阻塞性睡眠呼吸暂停。阻塞性睡眠呼吸暂停的药物治疗方法尚缺乏，但可能适用于某些人群，如庞贝病。
