Boesen Magnus Spangsberg, Albrechtsen Simon, Born Alfred Peter
Ugeskr Laeger. 2019 Jan 7;181(2).
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, which causes degeneration of peripheral nerves and muscles. It usually presents in childhood due to an insufficient level of survival motor neuron protein. This is a case series of three children, who had SMA type 1 or 2 and were treated with nusinersen from the age of five months, 16 months, and five years, respectively. At one-year follow-up, all children had improved motor function, but the child, who was treated from the age of five months, had more pronounced motor improvements than the other children. In conclusion, nusinersen seems to improve motor development in SMA, and an early treatment start is crucial.
脊髓性肌萎缩症（SMA）是一种常染色体隐性疾病，可导致周围神经和肌肉退化。由于存活运动神经元蛋白水平不足，该病通常在儿童期出现。这是一个包含三名儿童的病例系列，他们分别患有1型或2型SMA，分别在五个月、十六个月和五岁开始接受诺西那生治疗。在一年的随访中，所有儿童的运动功能均有改善，但五个月开始治疗的儿童比其他儿童的运动改善更为明显。总之，诺西那生似乎可改善SMA患者的运动发育，尽早开始治疗至关重要。
