Developmental Neurosciences, UCL Great Ormond Street Hospital, Zayed Centre for Research into Rare Disease in Children, London, UK.
Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK.
Dev Med Child Neurol. 2021 Aug;63(8):925-933. doi: 10.1111/dmcn.14869. Epub 2021 Mar 24.
Increasingly effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders. Patient-centred, personalized approaches include the repurposing of existing treatments for specific conditions and the development of novel therapies that target the underlying genetic defect or disease mechanism. In tandem with these scientific advances, close collaboration between clinicians, researchers, affected families, and stakeholders in the wider community will be key to successfully delivering such precision therapies to children with movement disorders. What this paper adds Precision medicine for genetic childhood movement disorders is developing rapidly. Accurate diagnosis, disease-specific outcome measures, and collaborative multidisciplinary work will accelerate the progress of such strategies.
越来越有效的靶向精准医学已经在为许多遗传性儿童运动障碍提供治疗方案，或者正在研发中。以患者为中心的个性化方法包括重新利用现有治疗方法治疗特定疾病和开发针对潜在遗传缺陷或疾病机制的新型疗法。随着这些科学进步，临床医生、研究人员、受影响的家庭以及更广泛社区的利益相关者之间的密切合作，对于成功为患有运动障碍的儿童提供精准治疗至关重要。本文的贡献遗传性儿童运动障碍的精准医学正在迅速发展。准确的诊断、针对特定疾病的结果衡量标准以及协作式多学科工作将加速这些策略的进展。
