From the Pediatric Neurology (Giorgia Coratti, M.R., A.C., M.C.P., M.D.P., E.M.), Università Cattolica del Sacro Cuore, Rome; Centro Clinico Nemo (Giorgia Coratti, M.R., A.C., M.C.P., M.D.P., E.M.), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome; Department of Neurosciences (A.D.), Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome; The NEMO Center in Milan (V.S.), Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Italy; Center of Translational and Experimental Myology (C.B.), and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini; Department of Clinical and Experimental Medicine (S.M.), University of Messina; AOU Città della Salute e della Scienza di Torino (F.R., T.M.), presidio Molinette e OIRM (SS Malattie Neuromuscolari e SC Neuropsichiatria Infantile), Turin; Department of Neurological Sciences (M.C.), AOU Ospedali Riuniti di Ancona; AOU Pisana (Department of Clinical and Experimental Medicine) (G.S.), Neurology Unit, Pisa; Neurology Unit (E.P.), Azienda Ospedale Padova, Padua; Department of Neurology/Stroke Unit (M.T.), Bolzano Hospital, Trentino-Alto Adige; Department of Clinical and Experimental Sciences (M.F.), University of Brescia; NeMO-Brescia Clinical Center for Neuromuscular Diseases (M.F.), Brescia; Neurology Unit (Giacomo Comi), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan; Dino Ferrari Center (Giacomo Comi), Department of Pathophysiology and Transplantation, University of Milan; Fondazione IRCCS Istituto Neurologico Carlo Besta Developmental Neurology Unit (R.M.), Milan; Neuroimmunology and Neuromuscular Disorders Unit (L.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Institute for Maternal and Child Health (I.B.), IRCCS, Burlo Garofolo, Trieste; NeuroMuscular Unit (M.G.D.A.), Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco; Scientific Institute IRCCS "E. Medea" (A.T.), Unit for Severe disabilities in developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Brindisi; UOC Clinica Neurologica (V.V.), IRCCS Institute of Neurological Sciences of Bologna, Emilia-Romagna; Metabolic Unit (M.D.), A. Meyer Children's Hospital, Florence; Neurology Unit (I.S.), Azienda Ospedaliero-Universitaria, Policlinico Bari "Amaducci", Bari; Department of Neurosciences (L.R.), Reproductive Sciences and Odontostomatology, University of Naples Federico II; Department of Neurosciences (A.V.), Pediatric Neurology, Santobono-Pausilipon Children's Hospital, Naples; Neurology Unit (L.V.), Department of Neurosciences, University Hospital Santa Maria della Misericordia, Udine, Friuli-Venezia Giulia; Department of Child Neuropsychiatry (A.B.), Fondazione Istituto Neurologico Nazionale C Mondino Istituto di Ricovero e Cura a Carattere Scientifico, Pavia; Dipartimento di Salute della Donna e del Bambino (C.A.), Università di Padova, Padua; IRCCS Istituto delleScienze Neurologiche di Bologna-UOC Neuropsichiatria Infantile (A.P.); Centro Sclerosi Multipla (M.A.M.), P.O. Binaghi, ASSL Cagliari; Cardiomyology and Medical Genetics Unit (L.P.), Università degli Studi della Campania Luigi Vanvitelli Scuola di Medicina e Chirurgia, Napoli; Section of Neurology (F.B.), Department of Biomedicine, Neuroscience, and Advanced Diagnostics (BiND), University of Palermo; Neurology Department (N.C.), Hospital San Francesco of Nuoro; Department of Neuroscience (M.G.), Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant'Andrea Hospital; Neuromuscular Omnicentre (NeMO) Trento-Fondazione Serena Onlus (R.Z.), Pergine Valsugana; Pediatric Neurology Unit (D.G.), Pediatric Hospital "Giovanni XXIII", Bari; Child Neuropsychiatry Unit (S.S.), Paediatric Hospital G Salesi, Ancona; Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan; National Centre for Rare Diseases (D.T.), Istituto Superiore di Sanità, Rome; and Sezione di Igiene (S.B.), Istituto di Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.
Neurology. 2023 Mar 14;100(11):522-528. doi: 10.1212/WNL.0000000000201654. Epub 2022 Dec 2.
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.
An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, copy number, and treatment were collected.
One thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. 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%).
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.
脊髓性肌萎缩症（SMA）是一种由 SMN1 基因突变引起的神经退行性疾病。本研究旨在评估意大利 SMA 的患病率和治疗处方情况。
向意大利政府确定的 36 个 SMA 转诊中心分发了在线调查。收集了根据年龄、类型、拷贝数和治疗情况细分的 SMA 患者数量的数据。
意大利中心目前有 1255 名 SMA 患者接受随访，估计患病率为 2.12/100000。在 1255 名患者中，284 名是 1 型，470 名是 2 型，467 名是 3 型，15 名是 4 型，估计患病率分别为 0.48、0.79、0.79 和 0.02/100000。还包括 3 名 SMA 0 型和 16 名无症状患者。约 85%的患者正在接受一种可用的治疗方法。接受治疗的患者比例随着病情的严重程度而降低（SMA I：95.77%，SMA II：85.11%，SMA III：79.01%）。
这些结果首次提供了全国范围内 SMA 患病率的估计值，以及目前可用于治疗的患者的分布情况。这些数据为评估与不断发展的治疗情况相关的未来变化提供了基线。
