Duchenne muscular dystrophy (Duchenne muscular dystrophy) is caused by a gene defect on the X chromosome encoding dystrophin. Most of these mutations are deletions, and the rest patients are point mutations of coding sequences or splicing sites. In addition, not all children with Duchenne muscular dystrophy have DMD gene problems, and other gene mutations can also lead to the disease, so it is necessary to conduct comprehensive detection and analysis. When a boy has muscle weakness, myopathy and suspicious family history, muscular dystrophy is usually suspected. How to diagnose muscular dystrophy? Among them, the identification and gene decoding of pathogenic genes are the most direct and accurate methods of all diagnostic methods. By identifying and decoding the pathogenic genes, children with Duchenne muscular dystrophy can be diagnosed early, the disease types can be determined, and female carriers can be diagnosed. Although the vast majority of female carriers of Duchenne muscular dystrophy are asymptomatic, 20% of female carriers will have mild to moderate muscle weakness, and 50%-60% will have symptoms of elevated serum muscle enzymes. Therefore, the identification of pathogenic genes is the gold standard for the diagnosis of Duchenne muscular dystrophy.