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杜氏肌营养不良症的终生照护。

Lifetime Care of Duchenne Muscular Dystrophy.

机构信息

Department of Pediatrics, University of Washington, Box 359300, Seattle, WA 98195, USA; Division of Pulmonary and Sleep Medicine, Seattle Children's Hospital, 4800 Sand Point Way Northeast, M/S OC.7.720, Seattle, WA 98115, USA.

Department of Pediatrics, University of Washington, Box 359300, Seattle, WA 98195, USA; Division of Pulmonary and Sleep Medicine, Seattle Children's Hospital, 4800 Sand Point Way Northeast, M/S OC.7.720, Seattle, WA 98115, USA.

出版信息

Sleep Med Clin. 2020 Dec;15(4):485-495. doi: 10.1016/j.jsmc.2020.08.011. Epub 2020 Oct 5.

Abstract

Individuals with Duchenne muscular dystrophy (DMD) have evolving sleep and respiratory pathophysiology over their lifetimes. Across the lifespan of DMD, various sleep-related breathing disorders (SRBD) have been described, including obstructive sleep apnea, central sleep apnea, and nocturnal hypoventilation. In addition to SRBD, individuals with DMD can be affected by insomnia, chronic pain and other factors interfering with sleep quality, and daytime somnolence. The natural progression of DMD pathophysiology has changed with the introduction of therapies for downstream pathologic pathways and will continue to evolve with the development of therapies that target function and expression of dystrophin.

摘要

患有杜氏肌营养不良症(DMD)的个体在其一生中的睡眠和呼吸生理病理学都会不断演变。在 DMD 的整个生命周期中,已经描述了各种与睡眠相关的呼吸障碍(SRBD),包括阻塞性睡眠呼吸暂停、中枢性睡眠呼吸暂停和夜间通气不足。除了 SRBD,DMD 患者还可能受到失眠、慢性疼痛和其他影响睡眠质量的因素以及白天嗜睡的影响。随着下游病理途径治疗方法的引入,DMD 病理生理学的自然进程已经发生了变化,随着针对肌营养不良蛋白功能和表达的治疗方法的发展,这种进程将继续演变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fb/7534837/4cd21f525cdc/gr1_lrg.jpg

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