The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy.
The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy.
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脊髓性肌萎缩症的两种创新疗法的困境。
DOI：
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发表时间：
2017
影响因子：
158.5
通讯作者：
A. T. van der Ploeg
中科院分区：
文献类型：
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作者：
A. T. van der Ploeg
如果你已经诊断出一个孩子患有脊髓性肌萎缩症（SMA）1型（也称为Werdnig-Hoffman病），那么你就会清楚地记得，你告诉绝望的父母，你对他们的孩子无能为力。SMA的两种创新疗法现在可能带来一些希望-但它们对患者及其家人意味着什么？SMA是最常见的遗传性神经肌肉疾病之一，是一种退行性运动神经元疾病，可导致肌肉萎缩和呼吸衰竭。患有最严重形式的患者很少存活超过2岁。的. . .
If you have made a diagnosis of spinal muscular atrophy (SMA) type 1 (also known as Werdnig–Hoffman disease) in a child, then you have vivid memories of informing desperate parents that there is nothing you can do for their child. Two innovative therapies for SMA may now bring some hope — but what do they mean for patients and their families? SMA, which is one of the most common inheritable neuromuscular diseases, is a degenerative motor neuron disorder that leads to muscle atrophy and respiratory failure. Patients with the most severe form rarely survive beyond 2 years of age. The . . .