Columbia University Irving Medical Center, New York, New York.
Clin Obstet Gynecol. 2021 Dec 1;64(4):917-925. doi: 10.1097/GRF.0000000000000654.
Spinal muscular atrophy (SMA) is a life-threatening autosomal recessive disease that leads to progressive muscle weakness and atrophy, respiratory insufficiency and scoliosis. SMA is currently the most common monogenic cause of infant mortality. Amazing advancements have been made in the therapeutic options available for these children since 2016. What has also become clear is that the earlier the treatment is administered, the better the clinical outcome. For several reasons, which we will review in this chapter, SMA may be an excellent disease candidate for in utero therapy.
脊髓性肌萎缩症（SMA）是一种危及生命的常染色体隐性疾病，导致进行性肌肉无力和萎缩、呼吸功能不全和脊柱侧凸。SMA 目前是婴儿死亡的最常见的单基因病因。自 2016 年以来，针对这些儿童的治疗选择已经取得了惊人的进展。同样清楚的是，治疗越早，临床效果越好。由于我们将在本章中讨论的几个原因，SMA 可能是宫内治疗的极好疾病候选者。
