摘要：

近年研发的一些针对某些神经肌肉病的特异性基因治疗和酶替代治疗方法，使越来越多的咨询者将咨询重点由再生育风险转变为治疗，这就要求临床遗传咨询师对所咨询的疾病有相当的知识储备，方能与咨询者进行交流，并推动临床遗传咨询的发展。因此，有必要强调临床遗传咨询师熟练掌握确诊和遗传咨询的详细步骤，并提出对临床遗传咨询师的基本要求。

关键词: 神经肌肉疾病, 遗传咨询, 综述

Abstract:

Due to recent invention of specific gene therapies and enzyme replacement therapy (ERT) for some neuromuscular diseases, genetic counsel not only focus on the risk of a second reproduction, but also their treatment, such as the principle, method, efficacy and adverse reactions of ERT for Pompe disease, as well as nutritional support, rehabilitation training, application of noninvasive ventilator and daily life considerations. In order to perform effective genetic counseling, clinical consultants are required to master considerable knowledge for relevant diseases. Here, this paper emphasized that clinical genetic counselors are obliged to confirm diagnosis and be familiar with clinical genetic counseling procedures, and put forward the basic requirements for counselors.

Key words: Neuromuscular diseases, Genetic counseling, Review