%0 English Abstract
%T [Expert consensus on newborn screening for spinal muscular atrophy (2023 edition)].
%A  
%A  
%J Zhonghua Yi Xue Za Zhi
%V 103
%N 27
%D 2023 Jul 18
%M 37455125
暂无%R 10.3760/cma.j.cn112137-20230310-00372
%X Spinal muscular atrophy (SMA) is a common degenerative neurological disease characterized by progressive muscle weakness and atrophy. In recent years, disease-modifying therapies have emerged and changed the natural course of SMA, with pre-symptomatic diagnosis and treatment being superior to post symptom treatment. Therefore, in order to standardize and guide the current newborn screening work of SMA, we organized national experts from related fields across the country to reach the following consensus: the SMA newborn screening process and related issues, the SMA post-screening diagnosis process and related issues, and the disease management of screened and confirmed SMA newborns, etc.<BR>脊髓性肌萎缩症（SMA）是一种常见的退行性神经肌肉疾病，表现为进行性肌肉无力和萎缩。近年来，相继出现的疾病修正治疗药物改变了SMA的自然病程，症状前诊断并给予疾病修正治疗优于症状后治疗。为此，本共识组织全国相关领域专家，围绕以下主题达成共识：SMA新生儿筛查流程与相关问题、SMA筛查后确诊流程与相关问题、筛查确诊SMA新生儿的疾病管理等，以期规范和指导当前SMA的新生儿筛查工作。.