Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.
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DOI：
10.1016/s1474-4422(18)30024-3
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发表时间：
2018-03
期刊：
影响因子：
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通讯作者：
DMD Care Considerations Working Group
中科院分区：
文献类型：
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作者：
Birnkrant DJ;Bushby K;Bann CM;Apkon SD;Blackwell A;Brumbaugh D;Case LE;Clemens PR;Hadjiyannakis S;Pandya S;Street N;Tomezsko J;Wagner KR;Ward LM;Weber DR;DMD Care Considerations Working Group
自2010年发表杜氏肌营养不良症（DMD）护理注意事项以来，这种严重的进行性神经肌肉疾病的多学科护理已经发展。随着患者生存率的提高，人们开始转向更具预见性的诊断和治疗策略，并重新关注患者的生活质量。2014年，成立了一个由来自多个学科的专家组成的指导委员会，以更新2010年DMD护理考虑因素，目标是改善患者护理。新的护理考虑旨在满足延长生存期患者的需求，为评估和干预的进展提供指导，并考虑新兴的DMD遗传和分子疗法的影响。委员会确定了更新中包含的11个主题，其中8个在最初的护理考虑因素中得到了解决。三个新的主题是初级保健和紧急管理，内分泌管理和整个生命周期的护理过渡。在这三部分更新的第1部分中，我们提出了DMD诊断和神经肌肉，康复，内分泌（生长，青春期和肾上腺功能不全）和胃肠道（包括营养和吞咽困难）管理的护理注意事项。
Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care. The new care considerations aim to address the needs of patients with prolonged survival, to provide guidance on advances in assessments and interventions, and to consider the implications of emerging genetic and molecular therapies for DMD. The committee identified 11 topics to be included in the update, eight of which were addressed in the original care considerations. The three new topics are primary care and emergency management, endocrine management, and transitions of care across the lifespan. In part 1 of this three-part update, we present care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management.