Manzur A Y, Kinali M, Muntoni F
Dubowitz Neuromuscular Centre, Department of Paediatric Neurology, Great Ormond Street Hospital for Children, Institute of Child Health, London, UK.
Arch Dis Child. 2008 Nov;93(11):986-90. doi: 10.1136/adc.2007.118141. Epub 2008 Jul 30.
Duchenne muscular dystrophy (DMD) is familiar to paediatricians as the most common childhood muscular dystrophy and leads to severe disability and early death in the late teenage years if untreated. Improvements in general care, glucocorticoid corticosteroid treatment, non-invasive ventilatory support, and cardiomyopathy and scoliosis management have significantly changed the course of DMD in treated individuals, so that survival into adulthood is now a realistic possibility for most patients. This has important implications for the medical and social sectors involved in the transition to adult medical services and the provision of suitable employment and social care. Multidisciplinary team working for optimal management of DMD-specific multisystem complications is essential, and collaboration in disease specific national clinical networks is recommended. Several curative therapeutic strategies including cell and gene therapy are being pursued but are still at an experimental stage.
杜氏肌营养不良症（DMD）为儿科医生所熟知，是最常见的儿童期肌营养不良症，若不治疗，会导致严重残疾并在青少年后期过早死亡。在一般护理、糖皮质激素治疗、无创通气支持以及心肌病和脊柱侧弯管理方面的改善，显著改变了接受治疗的DMD患者的病程，因此现在大多数患者存活至成年已成为现实可能。这对参与向成人医疗服务过渡以及提供合适就业和社会护理的医疗和社会部门具有重要意义。多学科团队协作以优化管理DMD特定的多系统并发症至关重要，建议在特定疾病的国家临床网络中开展合作。包括细胞和基因治疗在内的几种治愈性治疗策略正在探索中，但仍处于实验阶段。
