Iannaccone Susan T
University of Texas Southwestern Medical Center, Dallas, Texas 75207, USA.
J Child Neurol. 2007 Aug;22(8):974-8. doi: 10.1177/0883073807305670.
Spinal muscular atrophy is an incurable disease with a frequency of 8 per 100,000 live births. The disease gene, survival motor neuron 1 (SMN1), was identified with a disease modifying gene, SMN2. There is a high mortality rate in infancy and severe morbidity in childhood. Management depends on treating or preventing complications of weakness and maintaining quality of life. Weakness may affect several organ systems: respiratory, due to restrictive lung disease; gastrointestinal, in terms of dysphagia and constipation; and orthopedic, with progressive deformities. This review focuses on management of restrictive lung disease, the most common and most serious complication. Three areas of recent development are noninvasive ventilation using new technology, new awareness of the importance of identifying sleep-disordered breathing, and a new multidisciplinary approach to standard of care. Noninvasive ventilation and improved airway clearance are helpful for preoperative and postoperative management. Standard of care requires a multidisciplinary approach.
脊髓性肌萎缩症是一种无法治愈的疾病，发病率为每10万例活产中有8例。致病基因存活运动神经元1（SMN1）已被确定，同时还有一个疾病修饰基因SMN2。婴儿期死亡率高，儿童期发病率严重。治疗方法包括治疗或预防肌无力并发症以及维持生活质量。肌无力可能会影响多个器官系统：呼吸系统方面，由于限制性肺病；胃肠道方面，表现为吞咽困难和便秘；骨科方面，则会出现进行性畸形。本综述重点关注限制性肺病的管理，这是最常见且最严重的并发症。近期发展的三个领域包括使用新技术的无创通气、对识别睡眠呼吸障碍重要性的新认识以及一种新的多学科护理标准方法。无创通气和改善气道清除对术前和术后管理有帮助。护理标准需要多学科方法。
