脊髓性肌萎缩
医学
儿科
萎缩
胎龄
人口
新生儿筛查
怀孕
内科学
疾病
环境卫生
生物
遗传学
作者
Jacob Bistritzer,Dekel Avital,Inbal Golan‐Tripto,Ramy Abramsky,Iris Noyman
标识
DOI:10.1177/08830738251322224
摘要
Early treatment in spinal muscular atrophy is widely recognized as critical for improving neurologic and respiratory outcomes, especially in presymptomatic infants. With the expansion of newborn screening, more infants are now diagnosed presymptomatically. Currently, there are no established treatment guidelines for preterm infants with spinal muscular atrophy, with only anecdotal reports available. Additionally, there is limited knowledge regarding the safety and efficacy of the different treatments in preterm infants. In Israel, although a newborn screening program for spinal muscular atrophy is not yet implemented, a significant portion of the population participates in genetic carrier screening. Here, we present a case of presymptomatic preterm twins, born at gestational age of 32 + 2 weeks, birth weights of 1855 and 1740 g, respectively. They were treated with risdiplam followed by onasemnogene abeparvovec at a gestational age of 35 and 43 weeks, respectively. This case adds to the limited data on treatment options for preterm infants.
科研通智能强力驱动
Strongly Powered by AbleSci AI