% 0期刊文章% Giorgia Coratti %一个安娜卡帕索玛蒂娜·里奇% %阿黛尔D中保%也好桑松%一个索尼娅·梅西纳克劳迪奥·布鲁诺% %一个Federica里奇% iziana Mongini % Michela Coccia %一个Elena Pegoraro Gabriele西西里岛舞蹈% %一个马拉Turri % Massimiliano Filosto %马森一Riccardo Giacomo Comi % %一个洛伦佐·美极%艾琳布鲁诺%玛丽亚葛拉齐亚德安杰洛%安东尼奥Trabacca % Veria Vacchiano %玛丽亚Donati %伊莎贝拉西蒙尼·露西亚鲁杰罗% %一个洛伦佐Verriello安东尼奥·瓦伦% %Angela Berardinelli %A Caterina Agosto %A Antonella Pini %A Maria Antonietta Maioli %A Luigia Passamano %A Filippo Brighina %A Nicola Carboni %A Matteo Garibaldi %A Riccardo Zuccarino %A Delio Gagliardi %A Sabrina Siliquini %A Stefano Previtali %A Domenica Taruscio %A Stefania Boccia %A Maria Carmela Pera %A Marika Pane %A Eugenio Mercuri %A代表ITASMAC工作组%T疾病修饰疗法时代脊髓性肌萎缩的患病率%B意大利全国调查%D2023 % r 10.1212/ wnl。目的脊髓性肌萎缩(SMA)是一种由SMN半岛投注体育官网1基因突变引起的神经退行性疾病。本研究的目的是评估意大利SMA的患病率和治疗处方。方法在意大利政府确定的36个SMA转诊中心进行在线调查。收集了根据年龄、类型、SMN2拷贝数和治疗方法细分的SMA患者数量的数据。结果:目前在意大利各中心随访了12555例SMA患者，估计患病率为2.12/10万。在1255例患者中，I型284例，II型470例，III型467例，IV型15例，患病率分别为0.48 /10万，0.79 /10万，0.79 /10万和0.02/10万。SMA 0患者3例，症状前患者16例。 Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%).Discussion The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario. %U //www.ebmtp.com/content/neurology/100/11/522.full.pdf