Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy
Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy
复制标题
DOI：
10.1002/mus.23810
复制
发表时间：
2013-07-01
期刊：
影响因子：
3.4
通讯作者：
Lloyd-Puryear, Michele
中科院分区：
文献类型：
--
作者：
Mendell, Jerry R.;Lloyd-Puryear, Michele
本文综述了新生儿杜氏肌营养不良症（DMD）筛查的进展。2012年9月11日至12日在马里兰州贝塞斯达举行的研讨会上，来自多个学科的一组专家对这一主题进行了全面讨论。这次会议是由新生儿DMD筛查方法的改进和更大的治疗潜力同时结合而引发的。在筛查方面，引入了新生儿筛查的两层系统，使肌酸激酶水平和DMD基因分析能够在出生时获得的相同干血点上进行。治疗方面的改进包括外显子跳跃的有希望的结果，以及多项研究显示糖皮质激素的长期益处，数据表明两种治疗形式的早期干预是最有益的。本次研讨会的结论和支持性数据可能对推动批准新生儿DMD筛查的努力产生重大影响。肌肉神经，2013
This report summarizes the progress made in newborn screening for Duchenne muscular dystrophy (DMD). This subject was discussed fully at a symposium held on September 11-12, 2012, in Bethesda, Maryland, by a group of experts from multiple disciplines. The meeting was triggered by the simultaneous combination of improvements in methods for newborn screening for DMD and greater potential for treatment. On the screening side, a two-tier system of newborn screening was introduced that enabled creatine kinase levels and DMD gene analysis to be done on the same dried blood spots obtained at birth. Treatment improvements included promising results from exon skipping as well as multiple studies showing long-term benefits of glucocorticoids and data indicating that early intervention of both forms of therapy was the most beneficial. Conclusions from this symposium with supportive data could have a significant impact on propelling efforts for approval of newborn screening for DMD. Muscle Nerve, 2013