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首页> 外文期刊>Journal of neurology >Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
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Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

机译：测绘5,000名脊髓肌萎缩患者的护理差异，这是一项关于北美，澳大利亚和欧洲24个国家注册商的调查

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摘要

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity,with SMA type I patients often dying before 2 years of age, whereas type HI patients experience less severe clinical manifestations and can have a normal life span. Here, we describe the design, setup and utilisation of the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. We analyse a selection of clinical items from the SMA registries in order to provide a snapshot of the clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care. Our study included 5,068 SMA patients in 25 countries. A total of 615 patients were ventilated, either invasively (178) or non-inva-sively (437), 439 received tube feeding and 455 had had sco-liosis surgery. Some of these interventions were not available to patients in all countries, but differences were also noted among high-income countries with comparable wealth and health care systems. This study provides the basis for further research, such as quality of life in ventilated SMA patients, and will inform clinical trial planning.
机译：脊髓肌肉萎缩（SMA）是一种常染色体隐性遗传疾病，其特征，其特征在于运动神经元和渐进式肌肉无力的变性。它是由纯合子缺失在染色体上的存活电动机神经元基因引起的5. SMA显示出广泛的临床严重程度，SMA型患者经常在2岁之前死亡，而患者患者患者较小的临床表现，可以有一个正常的寿命。在这里，我们描述了对待核武器NMD国家SMA患者注册管理机构的设计，设置和利用，其特征在于一个小但完全标准化的注册表项以及所有患者的遗传确认。我们分析了来自SMA注册表的一系列临床项目，以便提供SMA亚型分层的临床数据的快照，并将这些结果与公布的护理标准建议进行比较。我们的研究包括25个国家的5,068名SMA患者。共有615名患者通风，侵入性（178）或非侵入性（437），439个接受的管喂养和455次患有Sco-Lioss手术。所有国家的患者没有一些干预措施，但高收入国家也有不同的财富和医疗保健系统。本研究为进一步研究提供了进一步研究的基础，例如通风的SMA患者的生活质量，并提供临床试验规划。

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