Paediatric Neurology Unit, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy.
Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, FL, USA.
Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23.
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management. Pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new treatments for SMA are discussed in part 2.
脊髓性肌萎缩症（SMA）是一种严重的神经肌肉疾病，由生存运动神经元 1 （SMN1）基因缺陷引起。其发病率约为每 11000 例活产儿中有 1 例。2007 年，国际 SMA 护理标准会议发表了 SMA 护理标准的共识声明，该声明已在全球范围内广泛使用。在这里，我们报告了对上一次推荐主题的两部分更新。在第 1 部分中，我们介绍了实现这些建议的方法，并更新了诊断、康复、矫形和脊柱管理；以及营养、吞咽和胃肠道管理。第 2 部分讨论了肺部管理、急性护理、其他器官受累、伦理问题、药物治疗以及 SMA 新疗法的影响。
