患有神经肌肉疾病的患者在进展为日间高碳酸血症之前,常常出现睡眠障碍性呼吸(包括肺泡通气不足),并且睡眠障碍性呼吸与疾病的进展相关。[39]Suresh S, Wales P, Dakin C, et al. Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population. J Paediatr Child Health. 2005;41:500-503.http://www.ncbi.nlm.nih.gov/pubmed/16150067?tool=bestpractice.com因此,建议筛查这些患者是否患有睡眠障碍性呼吸,从而确定哪些患者可能通过治疗干预受益。[41]Ward S, Chatwin M, Heather S, et al. Randomized controlled trial on non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax. 2005;60:1019-1024.http://www.ncbi.nlm.nih.gov/pubmed/16299118?tool=bestpractice.com所做试验包括肺功能测试、呼吸肌力测量和中枢呼吸驱动评估,这些试验已被证明对预测原发性肌病患者是否存在睡眠障碍性呼吸有用。[16]Ragette R, Mellies U, Schwake C, et al. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax. 2002;57:724-728.http://www.ncbi.nlm.nih.gov/pubmed/12149535?tool=bestpractice.com[42]Weinberg J, Klefbeck B, Borg J, et al. Polysomnography in chronic neuromuscular disease. Respiration. 2003;70:349-354.http://www.ncbi.nlm.nih.gov/pubmed/14512668?tool=bestpractice.com 额外的筛查可包括血清碳酸氢盐的测量、红细胞压积和动脉血气分析。建议尽早对患有肌病[36]Bourke SC, Gibson GJ. Sleep and breathing in neuromuscular disease. Eur Respir J. 2002;19:1194-1201.http://erj.ersjournals.com/content/19/6/1194.fullhttp://www.ncbi.nlm.nih.gov/pubmed/12108875?tool=bestpractice.com 和其他限制性疾病(例如肌萎缩性侧索硬化)的患者进行多导睡眠监测,因为治疗对生活质量和总生存率的影响即使在日间高碳酸血症发展之前就会有所体现。[41]Ward S, Chatwin M, Heather S, et al. Randomized controlled trial on non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax. 2005;60:1019-1024.http://www.ncbi.nlm.nih.gov/pubmed/16299118?tool=bestpractice.com[43]Lechtzin N, Scott Y, Busse AM, et al. Early use of non-invasive ventilation prolongs survival in subjects with ALS. Amyotroph Lateral Scler. 2007;8:185-188.http://www.ncbi.nlm.nih.gov/pubmed/17538782?tool=bestpractice.com[44]Sancho J, Servera E, Bañuls P, et al. Prolonging survival in amyotrophic lateral sclerosis: efficacy of noninvasive ventilation and uncuffed tracheostomy tubes. Am J Phys Med Rehabil. 2010;89:407-411.http://www.ncbi.nlm.nih.gov/pubmed/20407306?tool=bestpractice.com