Rational application of gene testing in the diagnosis of myopathy / 中华神经科杂志

ABSTRACT

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.