Abstract：
Dystrophinopathies caused by variants of DMD gene are a group of muscular diseases including Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy. With the advancement of genetic testing techniques and wider implementation of genetic screening, especially the expanded carrier screening, more and more individuals carrying DMD gene variants have been identified, whereas the genetic counseling capacity is relatively insufficient. Currently there is still a lack of professional norms for genetic counseling on dystrophinopathies. In this consensus, the main points to be covered in the pre- and post-test consultation have been discussed, with an aim to provide genetic counseling guidance for the disease diagnosis, treatment, and family reproduction.
摘要：
由DMD基因变异引起的肌营养不良蛋白病是一组肌肉疾病，包括Duchenne型肌营养不良症，Becker肌营养不良症,和DMD相关的扩张型心肌病。随着基因检测技术的进步和基因筛查的广泛实施，特别是扩大的载体筛选，越来越多的携带DMD基因变异的个体被鉴定出来,而遗传咨询能力相对不足。目前，对于肌萎缩蛋白病的遗传咨询仍然缺乏专业规范。在这个共识中,已经讨论了测试前和测试后咨询中应涵盖的要点，旨在为疾病诊断提供遗传咨询指导，治疗,和家庭繁殖。
