Pay attention to clinical genetic counseling of neuromuscular diseases

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.

DOI: 10.3969/j.issn.1672-6731.2019.06.002