Center for Sleep Medicine, Mayo Clinic, Rochester, MN.
Department of Pediatric Adolescent Medicine, Mayo Clinic, Rochester, MN.
J Clin Neuromuscul Dis. 2020 Dec;22(2):105-108. doi: 10.1097/CND.0000000000000304.
Spinal muscular atrophy (SMA) type 3 is an autosomal recessive neurological disorder associated with a deletion/mutation in the survival motor neuron gene, with gradually progressive degeneration of the motor neurons of the spinal cord and brainstem, which causes muscle weakness responsible for impairment of swallowing, breathing, and mobility.
We report an 11-year-old girl with SMA type 3 with moderate to severe obstructive sleep apnea (OSA) syndrome refractory to adenotonsillectomy and noninvasive ventilatory support. She was started on nusinersen, which is a novel disease modifying therapy for SMA. This new treatment led to improvement of the OSA in a short period, likely from better respiratory muscle function.
The improvement in OSA supports the role of nusinersen in sleep-related upper respiratory muscle function in SMA type 3.
脊髓性肌萎缩症（SMA）3 型是一种常染色体隐性神经疾病，与生存运动神经元基因的缺失/突变相关，脊髓和脑干的运动神经元逐渐退化，导致负责吞咽、呼吸和运动功能障碍的肌肉无力。
我们报告了一例 11 岁 SMA 3 型女孩，患有中重度阻塞性睡眠呼吸暂停（OSA）综合征，对腺样体扁桃体切除术和无创通气支持无反应。她开始使用 nusinersen，这是一种新型 SMA 疾病修正治疗药物。这种新的治疗方法在短时间内改善了 OSA，可能是由于呼吸肌功能更好。
OSA 的改善支持 nusinersen 在 SMA 3 型中与睡眠相关的上呼吸道肌肉功能的作用。
