Berzal-Serrano Alba, García-Bohórquez Belén, Aller Elena, Jaijo Teresa, Pitarch-Castellano Inmaculada, Rausell Dolores, García-García Gema, Millán José M
Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.
Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, 46026 Valencia, Spain.
Int J Neonatal Screen. 2025 Jan 14;11(1):7. doi: 10.3390/ijns11010007.
Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 () gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon seven of using dried blood spot (DBS) samples. From October 2021 to August 2024, a total of 31,560 samples were tested in the Valencian Community (Spain) and 4 of them were positive for SMA, indicating an incidence of 1/7890. Genetic confirmation was performed using multiplex ligation-dependent probe amplification (MLPA) and AmplideX PCR/CE Plus kit, in parallel obtaining concordant results in survival motor neuron 2 () gene copy number. Within the first few weeks of their lives, two of the four patients detected by NBS showed signs of severe hypotonia, becoming ineligible for treatment. The other two patients were the first presymptomatic patients with two copies of to receive treatment with Risdiplam in Spain. In order to treat positive cases in their early stages, we conclude that the official deployment of SMA newborn screening is necessary.
脊髓性肌萎缩症（SMA）是一种退行性神经肌肉疾病，95%的患者是由于生存运动神经元1（）基因的纯合缺失所致。通过新生儿筛查（NBS）及时诊断并在症状出现前开始治疗对于改善受影响个体的健康结局至关重要。我们通过定量聚合酶链反应（qPCR）进行了一项筛查试验，以扩增使用干血斑（DBS）样本的外显子七。从2021年10月到2024年8月，在西班牙巴伦西亚自治区共检测了31560份样本，其中4份SMA呈阳性，发病率为1/7890。使用多重连接依赖探针扩增（MLPA）和AmplideX PCR/CE Plus试剂盒进行基因确认，同时在生存运动神经元2（）基因拷贝数方面获得一致结果。在生命的最初几周内，通过NBS检测出的四名患者中有两名出现严重肌张力减退的迹象，不再适合接受治疗。另外两名患者是西班牙首批携带两个拷贝的无症状患者，接受了利司扑兰治疗。为了在早期治疗阳性病例，我们得出结论，官方开展SMA新生儿筛查是必要的。
