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International Journal of Neonatal Screening, Volume 11, Issue 1
2025 March - 22 articles
Cover Story: Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a homozygous deletion or gene conversion of the SMN1 gene in 95% of cases. Early diagnosis through newborn screening (NBS) and prompt treatment are vital for better outcomes. From October 2021 to August 2024 in a study in the Valencian Community, 31,560 dried blood spot samples were tested using quantitative PCR to detect SMN1 exon 7 deletions. Four samples were positive, indicating an incidence of 1 in 7,890. Genetic confirmation via MLPA and the use of an AmplideX PCR/CE SMN1/2 Plus kit showed consistent SMN2 copy numbers. Two patients showed severe hypotonia, making them ineligible for treatment, while the other two received Risdiplam, with these individuals being the first presymptomatic patients with two copies of SMN2 to receive this treatment in Spain. The study findings support official NBS implementation for SMA. View this paper
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Int. J. Neonatal Screen. - ISSN 2409-515X