{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:32:32Z","timestamp":1791250352730,"version":"4.1.0"},"reference-count":48,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T00:00:00Z","timestamp":1626739200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["20K08197"],"award-info":[{"award-number":["20K08197"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor neurons. The severe form of SMA is among the genetic diseases with the highest infant mortality. Although SMA has been considered incurable, newly developed drugs\u2014nusinersen and onasemnogene abeparvovec\u2014improve the life prognoses and motor functions of affected infants. To maximize the efficacy of these drugs, treatments should be started at the pre-symptomatic stage of SMA. Thus, newborn screening for SMA is now strongly recommended. Herein, we provide some data based on our experience of SMA diagnosis by genetic testing in Japan. A total of 515 patients suspected of having SMA or another lower motor neuron disease were tested. Among these patients, 228 were diagnosed as having SMA with survival motor neuron 1 (SMN1) deletion. We analyzed the distribution of clinical subtypes and ages at genetic testing in the SMN1-deleted patients, and estimated the SMA incidence based on data from Osaka and Hyogo prefectures, Japan. Our data showed that confirmed diagnosis by genetic testing was notably delayed, and the estimated incidence was 1 in 30,000\u201340,000 live births, which seemed notably lower than in other countries. These findings suggest that many diagnosis-delayed or undiagnosed cases may be present in Japan. To prevent this, newborn screening programs for SMA (SMA-NBS) need to be implemented in all Japanese prefectures. In this article, we also introduce our pilot study for SMA-NBS in Osaka Prefecture.<\/jats:p>","DOI":"10.3390\/ijns7030045","type":"journal-article","created":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T11:26:10Z","timestamp":1626780370000},"page":"45","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan"],"prefix":"10.3390","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2809-4670","authenticated-orcid":false,"given":"Tomokazu","family":"Kimizu","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Osaka Women\u2019s and Children\u2019s Hospital, 840 Murodocho, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinobu","family":"Ida","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Osaka Women\u2019s and Children\u2019s Hospital, 840 Murodocho, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kentaro","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ehime Prefectural Imabari Hospital, 4-5-5 Ishiicho, Imabari 794-0006, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9846-4142","authenticated-orcid":false,"given":"Hiroyuki","family":"Awano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1311-3448","authenticated-orcid":false,"given":"Emma Tabe Eko","family":"Niba","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8066-9211","authenticated-orcid":false,"given":"Yogik Onky Silvana","family":"Wijaya","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Children\u2019s Medical Center, Osaka City General Hospital, 2-13-22 Miyakojimahondori, Osaka 534-0021, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Shimomura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawacho, Nishinomiya 663-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1064-1202","authenticated-orcid":false,"given":"Tomoko","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawacho, Nishinomiya 663-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Tominaga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita 565-0871, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin","family":"Nabatame","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita 565-0871, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshio","family":"Saito","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, 5-1-1 Toneyama, Toyonaka 560-8552, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Hamazaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-machi, Osaka 545-8585, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Sakai","sequence":"additional","affiliation":[{"name":"Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita 565-0871, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Tokyo Women\u2019s Medical University, 8-1 Kawadacho, Tokyo 162-0054, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1677-1593","authenticated-orcid":false,"given":"Haruo","family":"Shintaku","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-machi, Osaka 545-8585, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0290-3137","authenticated-orcid":false,"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Takeshima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawacho, Nishinomiya 663-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Kobe 650-0017, Japan"},{"name":"Hyogo Prefectural Kobe Children\u2019s Hospital, 1-6-7 Minatojima Minamimachi, Kobe 650-0047, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6778-4511","authenticated-orcid":false,"given":"Hisahide","family":"Nishio","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Kobe 650-0017, Japan"},{"name":"Faculty of Medical Rehabilitation, Kobe Gakuin University, 518 Arise Ikawadani-cho, Kobe 651-2180, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masakazu","family":"Shinohara","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/ahg.12031","article-title":"Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials","volume":"77","author":"Nurputra","year":"2013","journal-title":"Ann. Hum. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, Incidence and Carrier Frequency of 5q-Linked Spinal Muscular Atrophy\u2014A Literature Review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and Characterization of a Spinal Muscular Atrophy-Determining Gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA Type and SMN2 Copy Number Revisited: An Analysis of 625 Unrelated Spanish Patients and a Compilation of 2834 Reported Cases","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal Muscular Atrophy: Diagnosis and Management in a New Therapeutic Era","volume":"51","author":"Arnold","year":"2015","journal-title":"Muscle Nerve"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1186\/s13023-017-0724-z","article-title":"Indirect Estimation of the Prevalence of Spinal Muscular Atrophy Type I, II, and III in the United States","volume":"12","author":"Lally","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1212\/01.wnl.0000290830.40544.b9","article-title":"The Changing Natural History of Spinal Muscular Atrophy Type 1","volume":"69","author":"Oskoui","year":"2007","journal-title":"Neurology"},{"key":"ref_8","first-page":"194","article-title":"Nusinersen: A Novel Antisense Oligonucleotide for the Treatment of Spinal Muscular Atrophy","volume":"24","author":"Neil","year":"2019","journal-title":"J. Pediatr. Pharmacol. Ther."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1177\/1060028020914274","article-title":"Onasemnogene Abeparvovec-Xioi: Gene Therapy for Spinal Muscular Atrophy","volume":"54","author":"Stevens","year":"2020","journal-title":"Ann. Pharmacother."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen Initiated in Infants during the Presymptomatic Stage of Spinal Muscular Atrophy: Interim Efficacy and Safety Results from the Phase 2 NURTURE Study","volume":"29","author":"Bertini","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.pediatrneurol.2019.05.005","article-title":"Impact of Age and Motor Function in a Phase 1\/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy","volume":"98","author":"Lowes","year":"2019","journal-title":"Pediatr. 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