基因检测在肌肉病诊断中的合理应用  

Rational application of gene testing in the diagnosis of myopathy

作　　者：郭军红[1] Guo Junhong(Department of Neurology,First Hospital of Shanxi Medical University,Taiyuan 030001,China)

机构地区：[1]山西医科大学第一医院神经内科,太原030001

出　　处：《中华神经科杂志》2022年第6期561-564,共4页Chinese Journal of Neurology

摘　　要：伴随基因检测的普及,由于遗传性肌肉病均为罕见病,部分诊治医生中出现了"唯基因论",在遗传性肌肉病的诊断中造成更多的误诊误治,给社会和家庭带来巨大经济负担。因此,应该认识到基因检测存在的不足,重视临床特征对疾病的提示作用,选择正确临床路径,进而选择正确的基因检测方法,让基因检测在遗传性肌肉病诊断中发挥正确的作用。With the development and popularity of genetic testing,more and more clinicians are over-relying on genetic testing for the diagnosis of hereditary myopathy,a rare disease,leading to misdiagnosis for patients and causing a huge economic burden to the society and family.It is essential for clinicians to further understand the limitations of gene testing and attach more attention to the clinical characteristics,which might be suggestive for the clinical diagnosis of hereditary myopathy.During the process of accurate diagnosis,gene testing should be selected based on the clinical manifestations,promoting its rational application in the diagnosis of hereditary myopathy.

关 键 词：神经肌肉疾病 遗传性疾病 先天性 遗传学技术 基因检测 

分 类 号：R440[医药卫生—诊断学] R685[医药卫生—临床医学]