A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated for ...

Learn about the promising advance in prenatal treatment of spinal muscular atrophy, introducing a potential approach to suppress symptoms of the disorder in infants.

在医学史上，最近的突破无疑是革命性的。2025年2月19日，国际杂志《新英格兰医学杂志》（NEJM）发布了一项引人瞩目的研究，报道了全球首例在子宫内成功治疗严重脊髓性肌萎缩症（SMA-1）的案例。这一突破性时刻为无数慢性疾病与遗传病患者带来了新的希望，同时也彰显了现代医学的创新与可能。

Among participants with 2 SMN2 copies: All participants had elevated baseline NfL levels relative to healthy children of similar age. In infants (n=11) who were nine months or younger at the first ...

The 5 mg risdiplam tablet provides the same efficacy and safety for spinal muscular atrophy as the currently available oral ...