Chinese guidelines on the multidisciplinary management of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is an X-linked recessive myopathy caused by mutations in the dystrophin gene, which is divided into presymptomatic, early ambulatory, late ambulatory, early non-ambulatory, and late non-ambulatory stages according to its disease progression. Some patients experience non-progressive cognitive developmental delays in the presymptomatic stage. DMD patients gradually develop osteoporosis, cardiomyopathy, decreased respiratory function, delayed puberty, and gastrointestinal symptoms as the disease progresses. The required multidisciplinary management strategies vary across different disease stages. To standardize the multidisciplinary management of DMD, we established the DMD Guideline Writing Committee under the authorization of Chinese Medical Association Rare Disease Branch. Combined with the questions raised by patients in multiple consultations, neuromuscular experts drafted the DMD guidelines based on published clinical evidence, current practices, and expert recommendations. A consensus was reached on the best-practice recommendations for DMD management after extensive consultations with specialists from multiple relevant disciplines. The resulting recommendations have been endorsed by Chinese Medical Association Rare Disease Branch. This guideline provides practical and reasonable recommendations for all healthcare professionals and caregivers involved in DMD management, ensuring that patients can receive high-standard medical treatment and care across our country, which also serves as a reference for government staff involved in DMD management.

Duchenne型肌营养不良（DMD）是由抗肌萎缩蛋白基因突变所致的一种X-连锁隐性遗传性肌病。依据患者的病情发展分为症状前期、早期独走期、晚期独走期、早期不能独走期以及晚期不能独走期。部分患者在症状前期出现非进展性认知发育迟滞，随着病情进展，逐渐出现骨质疏松、心肌病、呼吸功能下降、青春期发育延迟以及消化道症状，疾病的不同阶段需要的多学科管理策略也有所差异。为规范DMD的多学科管理，我们在中华医学会罕见病分会的许可下成立了DMD指南编写委员会，结合多次患者咨询会提出的问题，由神经肌肉病专家根据已发表的临床证据、当前实践和专家建议制定了DMD指南草案。在与多个相关学科的专家进行更广泛的磋商后，就DMD管理的最佳实践建议达成共识，由此产生的推荐建议已获得中华医学会罕见病分会的认可。本指南为所有参与DMD患者管理的医护和照料人员提供了实用且合理的建议，使患者在全国各地获得高标准的医疗和照护，并为政府相关部门对该病的管理提供参考。.