Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Clinical practice guidelines for Duchenne muscular dystrophy].
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Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Tan Hu, Liang Desheng, Wu Lingqian
Аннотация
Duchenne muscular dystrophy (DMD) is the most common X-linked recessive disorder of the neuromuscular system. The incidence of DMD in male newborns is approximately 1 in 3500. It is caused by mutations of dystrophin (DMD) gene in Xp21.2 region. The main clinical manifestations of DMD include progressive and symmetrical myasthenia. Due to the involvement of respiratory muscles and myocardium, DMD patients usually die before the age of 30. Genetic testing can uncover the mutations in 93.1% of the patients and lay a foundation for early treatment, improving the quality of life of patients, and preventing the families from having further affected children. This guideline has combined relevant research, guideline and consensus issued at home and abroad, and summarized genetic knowledge and clinical treatment for DMD, with the aim to standardize the diagnosis, treatment and prevention for patients and their families.