Recent advances in the management of Duchenne muscular dystrophy
Recent advances in the management of Duchenne muscular dystrophy
复制标题
杜氏肌营养不良症治疗的最新进展
DOI：
10.1136/archdischild-2014-307962
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发表时间：
2015
影响因子：
5.2
通讯作者：
V. Straub
中科院分区：
文献类型：
--
作者：
E. Strehle;V. Straub
杜氏肌营养不良症 (DMD) 是儿童时期最常见的遗传性神经肌肉疾病，主要影响男性。在上个世纪中，这些患者的平均预期寿命翻了一番，目前达到约 25 岁。这一进展是通过 DMD 患者诊断、治疗和长期护理方面的进步而实现的。基础和临床研究、国家和国际科学网络以及家长和患者支持团体都为实现这一目标做出了贡献。分子遗传疗法和个性化医疗的出现开辟了新的途径，并带来了希望有一天能够找到治愈这种令人衰弱的孤儿疾病的方法。这篇简短综述的主要目的是让儿科医生能够与患有 DMD 的男孩的父母就影响孩子临床护理的最新科学进展进行知情讨论。
Duchenne muscular dystrophy (DMD) is the commonest inherited neuromuscular disorder of childhood and mainly affects males. Over the course of the last century, the average life expectancy of these patients has doubled and now stands at ∼25 years. This progress has been made possible through advances in the diagnosis, treatment and long-term care of patients with DMD. Basic and clinical research, national and international scientific networks, and parent and patient support groups have all contributed to achieving this goal. The advent of molecular genetic therapies and personalised medicine has opened up new avenues and raised hopes that one day a cure for this debilitating orphan disease will be found. The main purpose of this short review is to enable paediatricians to have informed discussions with parents of boys with DMD about recent scientific advances affecting their child's clinical care.
DOI：
10.4155/cli.11.113
发表时间：
2011-09
期刊：
Clinical investigation
影响因子：
--
作者：
Bushby K;Connor E
通讯作者：
Connor E
ataluren作为治疗性废话抑制剂的代理。
影响因子：
10.5
作者：
Peltz SW;Morsy M;Welch EM;Jacobson A
通讯作者：
Jacobson A