{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T20:42:56Z","timestamp":1785357776462,"version":"3.55.0"},"reference-count":99,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T00:00:00Z","timestamp":1729814400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Universidad Sim\u00f3n Bol\u00edvar"},{"name":"Vicerrector\u00eda de Investigaci\u00f3n, Extensi\u00f3n e Innovaci\u00f3n, Barranquilla, Atl\u00e1ntico, Colombia"}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease primarily affecting paediatric patients, often leading to significant morbidity and mortality. Our principal objective is to describe the sociodemographic characteristics and evaluate the association between the number of SMN2 copies and SMA type in patients from the Colombian Foundation for Spinal Muscular Atrophy (FAMECOL) database. Methodology: An analytical cross-sectional study was conducted on 201 patients with a genetic diagnosis of SMA. Data were identified, extracted, and collected from patient records provided by FAMECOL as patients registered with the association, including 201 patients from April 2013 to April 2024, when the database was delivered. Qualitative variables were described using relative and absolute frequencies, while quantitative variables were described using central tendency and dispersion measures according to their distribution. The association between the SMA type and the SMN2 number of copies was assessed by Fisher\u2019s exact test (1 to 5 copies). Results: Of the 201 patients studied, 42% were female (n = 85), and 58% were male (n = 116). The median age was 9 years (IQR 4\u201316 years). The median age at diagnosis was 9 years (IQR 4\u201316), varying by subgroup: 2, 7, 14, and 41.5 years for each type, respectively. A total of 25% patients were from Antioquia (n = 51). Eighty-nine per cent had gastrostomy (n = 18). The association between the two variables was statistically significant (p &lt; 0.05). Conclusion: This study highlights SMA clinical variability and its association with the number of SMN2 copies, underscoring the importance of a personalised approach to diagnosing and managing this disease. The findings may guide more effective therapeutic strategies to improve patients\u2019 quality of life.<\/jats:p>","DOI":"10.3390\/jcm13216402","type":"journal-article","created":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T08:42:13Z","timestamp":1729845733000},"page":"6402","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients"],"prefix":"10.3390","volume":"13","author":[{"given":"Jos\u00e9","family":"Lamadrid-Gonz\u00e1lez","sequence":"first","affiliation":[{"name":"Programa de Maestr\u00eda en Gen\u00e9tica, Centro de Investigaciones en Ciencias de la Vida, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla, Atl\u00e1ntico 080003, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4559-2965","authenticated-orcid":false,"given":"Sandra","family":"Castellar-Leones","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Fisica y Rehabilitacion, Facultad de medicina, Universidad Nacional de Colombia, Bogot\u00e1 DC 111321, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5179-5400","authenticated-orcid":false,"given":"Julio C\u00e9sar","family":"Contreras-Vel\u00e1squez","sequence":"additional","affiliation":[{"name":"Departamento de Productividad e Innovaci\u00f3n, Universidad de la Costa, Barranquilla, Atl\u00e1ntico 080002, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1880-8887","authenticated-orcid":false,"given":"Valmore","family":"Berm\u00fadez","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias de la Salud, Centro de Investigaciones en Ciencias de la Vida, Universidad Sim\u00f3n Bol\u00edvar, Barranquilla, Atl\u00e1ntico 080003, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1001\/archneurol.2011.74","article-title":"Spinal Muscular Atrophy: A Timely Review","volume":"68","author":"Kolb","year":"2011","journal-title":"Arch. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/BF01776636","article-title":"Zwei Friihinfantile Hereditiirc Fiille von Progressiver Muskelatrophie unter dem Bilde der Dystrophie, aher anf Neurotischer Grundlage","volume":"22","author":"Werdnig","year":"1891","journal-title":"Arch. F\u00fcr Psychiatr. Nervenkrankh."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/BF01668496","article-title":"Ueber chronische spinale Muskelatrophie im Kindesalter, auf familiiirer Basis","volume":"3","author":"Hoffmann","year":"1893","journal-title":"Dtsch. Z. F\u00fcr Nervenheilkd."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1774","DOI":"10.1038\/s41431-019-0415-4","article-title":"Perspectives in Genetic Counseling for Spinal Muscular Atrophy in the New Therapeutic Era: Early Pre-Symptomatic Intervention and Test in Minors","volume":"27","author":"Tizzano","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.nmd.2008.10.004","article-title":"Ramblings in the History of Spinal Muscular Atrophy","volume":"19","author":"Dubowitz","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1001\/archneurpsyc.1956.02330230050005","article-title":"Heredofamilial Juvenile muscular Trophy Simulating Muscular Dystrophy","volume":"75","author":"Kugelberg","year":"1956","journal-title":"AMA Arch. Neurol. Psychiatry"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"11","DOI":"10.2147\/TACG.S239603","article-title":"Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance","volume":"14","author":"Keinath","year":"2021","journal-title":"Appl. Clin. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1007\/s00415-017-8549-1","article-title":"A Multi-Source Approach to Determine SMA Incidence and Research Ready Population","volume":"264","author":"Verhaart","year":"2017","journal-title":"J. Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1016\/S0092-8674(00)80367-0","article-title":"The Spinal Muscular Atrophy Disease Gene Product, SMN, and Its Associated Protein SIP1 Are in a Complex with Spliceosomal snRNP Proteins","volume":"90","author":"Liu","year":"1997","journal-title":"Cell"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A Single Nucleotide in the SMN Gene Regulates Splicing and Is Responsible for Spinal Muscular Atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s13311-014-0314-x","article-title":"The Genetics of Spinal Muscular Atrophy: Progress and Challenges","volume":"12","author":"Farrar","year":"2015","journal-title":"Neurotherapeutics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1590\/0004-282x20190073","article-title":"Observations from a Nationwide Vigilance Program in Medical Care for Spinal Muscular Atrophy Patients in Chile","volume":"77","author":"Alvarez","year":"2019","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1002\/ana.26788","article-title":"Clinical Phenotype of Pediatric and Adult Patients with Spinal Muscular Atrophy with Four SMN2 Copies: Are They Really All Stable?","volume":"94","author":"Ricci","year":"2023","journal-title":"Ann. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.bbagrm.2016.12.008","article-title":"Diverse Role of Survival Motor Neuron Protein","volume":"1860","author":"Singh","year":"2017","journal-title":"Biochim. Biophys. Acta Gene Regul. Mech."},{"key":"ref_15","first-page":"289","article-title":"Spinal Muscular Atrophy and a Model for Survival of Motor Neuron Protein Function in Axonal Ribonucleoprotein Complexes","volume":"48","author":"Rossoll","year":"2009","journal-title":"Results Probl. Cell Differ."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/j.ajhg.2023.01.001","article-title":"Comprehensive SMN1 and SMN2 Profiling for Spinal Muscular Atrophy Analysis Using Long-Read PacBio HiFi Sequencing","volume":"110","author":"Chen","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/hmg\/8.7.1177","article-title":"A Single Nucleotide Difference That Alters Splicing Patterns Distinguishes the SMA Gene SMN1 from the Copy Gene SMN2","volume":"8","author":"Monani","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/sj.ejhg.5201217","article-title":"Survival Motor Neuron SMN1 and SMN2 Gene Promoters: Identical Sequences and Differential Expression in Neurons and Non-Neuronal Cells","volume":"12","author":"Boda","year":"2004","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/sj.ejhg.5200957","article-title":"Inverse Correlation between SMN1 and SMN2 Copy Numbers: Evidence for Gene Conversion from SMN2 to SMN1","volume":"11","author":"Ogino","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1097\/00125817-200201000-00004","article-title":"Molecular Analysis of Spinal Muscular Atrophy and Modification of the Phenotype by SMN2","volume":"4","author":"Mailman","year":"2002","journal-title":"Genet. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/humu.24200","article-title":"Beyond Copy Number: A New, Rapid, and Versatile Method for Sequencing the Entire SMN2 Gene in SMA Patients","volume":"42","author":"Paramonov","year":"2021","journal-title":"Hum. Mutat."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"de-Andr\u00e9s-Beltr\u00e1n, B., G\u00fceita-Rodr\u00edguez, J., Palacios-Ce\u00f1a, D., and Rodr\u00edguez-Fern\u00e1ndez, \u00c1.L. (2023). Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study. Children, 10.","DOI":"10.3390\/children10050892"},{"key":"ref_23","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_24","doi-asserted-by":"crossref","unstructured":"Angilletta, I., Ferrante, R., Giansante, R., Lombardi, L., Babore, A., Dell\u2019Elice, A., Alessandrelli, E., Notarangelo, S., Ranaudo, M., and Palmarini, C. (2023). Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms241914873"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2009.066969","article-title":"Differences in SMN1 Allele Frequencies among Ethnic Groups within North America","volume":"46","author":"Hendrickson","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_26","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_27","doi-asserted-by":"crossref","unstructured":"Vorster, E., Essop, F.B., Rodda, J.L., and Krause, A. (2020). Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?. Front. Genet., 11.","DOI":"10.3389\/fgene.2020.00054"},{"key":"ref_28","unstructured":"Bola\u00f1os, X.E. (2024, October 16). Caracterizaci\u00f3n Funcional de Pacientes Con Atrofia Muscular Espinal Valorados En Instituto de Rehabilitaci\u00f3n de Bogot\u00e1, Colombia, Entre Los A\u00f1os 2009 a 2019. Available online: https:\/\/repositorio.unal.edu.co\/handle\/unal\/75621."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"89","DOI":"10.7705\/biomedica.6178","article-title":"Clinical-Functional Characterization of Patients with Spinal Muscular Atrophy in Central-Western Colombia","volume":"42","author":"Cardona","year":"2022","journal-title":"Biomedica"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"9","DOI":"10.22379\/2422402270","article-title":"Caracter\u00edsticas Cl\u00ednicas de Los Pacientes Menores de 18 A\u00f1os Con Atrofia Muscular Espinal En Medell\u00edn, 2008\u20132013","volume":"32","author":"Valencia","year":"2016","journal-title":"Acta Neurol. Colomb."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"100808","DOI":"10.1016\/j.gimo.2023.100808","article-title":"Educational Needs in Diagnosing Rare Diseases: A Multinational, Multispecialty Clinician Survey","volume":"1","author":"Bomberger","year":"2023","journal-title":"Genet. Med. Open"},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Willmen, T., Willmen, L., Pankow, A., Ronicke, S., Gabriel, H., and Wagner, A.D. (2023). Rare Diseases: Why Is a Rapid Referral to an Expert Center so Important?. BMC Health Serv. Res., 23.","DOI":"10.1186\/s12913-023-09886-7"},{"key":"ref_33","unstructured":"Ministerio de Salud y Protecci\u00f3n Social (2024, October 16). RESOLUCI\u00d3N N\u00daMERO 023 DE 2023, Available online: https:\/\/www.minsalud.gov.co\/Normatividad_Nuevo\/Resoluci%C3%B3n%20No.%20023%20de%202023.pdf."},{"key":"ref_34","unstructured":"Fernando, R.G., Moscoso, L.A., Casadiego, M.A.G., Bernal, G.B., Castillo, L.A., and Garc\u00eda, A.M.R. (2019). Lineamientos para el desarrollo de una estrategia de uso adecuado de Nusinersen en Atrofia Muscular Espinal (incluyendo el perfil de seguridad). Minist. Salud Protecci\u00f3n Soc., Available online: https:\/\/www.minsalud.gov.co\/sites\/rid\/Lists\/BibliotecaDigital\/RIDE\/VS\/MET\/lineamiento-nusinersen-msps-iets.pdf."},{"key":"ref_35","unstructured":"Fuentes, J.F., Mart\u00ednez, M.J., Guerrera, M.F., Aristi\u00e1bal, F.A., Orozco, J.G., and Rodr\u00edguez, A. (2024, October 16). Acta No. 01 de 2023 SEMNNIMB. SALA ESPECIALIZADA DE MOL\u00c9CULAS NUEVAS, NUEVAS INDICACIONES Y MEDICAMENTOS BIOL\u00d3GICOS, Available online: https:\/\/www.invima.gov.co\/sites\/default\/files\/medicamentos-y-productos-biologicos\/2023-10\/acta-no-01-de-2023-conjunta-desabastecidos-semnnimb-sem.pdf."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.nmd.2017.05.011","article-title":"Spinal Muscular Atrophy: A Changing Phenotype beyond the Clinical Trials","volume":"27","author":"Tizzano","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and Management of Spinal Muscular Atrophy: Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic and Nutritional Care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_38","first-page":"35","article-title":"When To Use Fisher\u2019s Exact Test","volume":"Volume 2","author":"Bower","year":"2003","journal-title":"American Society for Quality, Six Sigma Forum Magazine"},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Gohel, D., and Skintzos, P. (2024, July 20). Flextable: Functions for Tabular Reporting, 2017, Version 0.9.6. Available online: https:\/\/cran.r-project.org\/web\/packages\/flextable\/index.html.","DOI":"10.32614\/CRAN.package.flextable"},{"key":"ref_40","unstructured":"R Core Team (2022). R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Dr. Valmore Berm\u00fadez."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/gt.2017.52","article-title":"The Clinical Landscape for SMA in a New Therapeutic Era","volume":"24","author":"Talbot","year":"2017","journal-title":"Gene Ther."},{"key":"ref_42","first-page":"E2103","article-title":"Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures","volume":"101","author":"Ribero","year":"2023","journal-title":"Neurology"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"333","DOI":"10.31031\/PRM.2021.04.000594","article-title":"A Comprehensive Review on Spinal Muscular Atrophy (SMA)","volume":"4","author":"Das","year":"2021","journal-title":"Perceptions Reprod. Med."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1007\/s40120-021-00307-7","article-title":"Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls","volume":"11","author":"Viscidi","year":"2022","journal-title":"Neurol. Ther."},{"key":"ref_45","unstructured":"Gonz\u00e1lez, J.F., Orozco, M.J.M., Pab\u00f3n, M.F.G., Guti\u00e9rrez, F.A.A., D\u00edaz, J.G.O., Villanueva, K.A.R., Bayona, K.C.D., Rojas, J.P.C., Guti\u00e9rrez, J.J.L., and S\u00e1nchez, M.J.T. (2024, October 16). ACTA No. 09 de 2023 Segunda Parte. SALA ESPECIALIZADA DE MOL\u00c9CULAS NUEVAS, NUEVAS INDICACIONES Y MEDICAMENTOS BIOL\u00d3GICOS, Available online: https:\/\/www.invima.gov.co\/sites\/default\/files\/dispositivos-medicos\/Sala-especializada-de-Dispositivos-Medicos-In-Vitro\/Pronunciamientos-sala-conjuntas\/ASS-RSA-FM045%20ACTA%208%20DEL%2010%20DE%20JULIO%20DE%202024.pdf."},{"key":"ref_46","unstructured":"Ministerio de Salud y Protecci\u00f3n Social (2024, October 16). Plan Nacional de Gesti\u00f3n Para Las Enfermedades Hu\u00e9rfanas\/Raras, 2024, Available online: https:\/\/www.minsalud.gov.co\/sites\/rid\/Lists\/BibliotecaDigital\/RIDE\/VS\/PP\/ENT\/plan-nacional-gestion-enfermedades-huerfanas-raras.pdf."},{"key":"ref_47","unstructured":"Toloza, N.E.G. (2024, October 16). Informe de Evento de Enfermedades Hu\u00e9rfanas\u2014Raras, 2019, Available online: https:\/\/www.ins.gov.co\/buscador-eventos\/Informesdeevento\/ENFERMEDADES%20HU%C3%89RFANAS-RARAS_2019.pdf."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2250","DOI":"10.1038\/s41436-021-01273-z","article-title":"Opportunities and Pitfalls of Social Media Research in Rare Genetic Diseases: A Systematic Review","volume":"23","author":"Miller","year":"2021","journal-title":"Genet. Med."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/978-90-481-9485-8_15","article-title":"Quality of Life and Rare Diseases","volume":"Volume 686","author":"Groft","year":"2010","journal-title":"Rare Diseases Epidemiology"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"3107","DOI":"10.1093\/hmg\/ddac097","article-title":"Motor Unit Recovery Following Smn Restoration in Mouse Models of Spinal Muscular Atrophy","volume":"31","author":"Comley","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.pediatrneurol.2015.06.002","article-title":"Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review","volume":"53","author":"Lin","year":"2015","journal-title":"Pediatr. Neurol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1186\/s40001-023-01098-3","article-title":"Association between Spinal Muscular Atrophy Type and Delayed Diagnosis and the Risk of Spinal Deformity in Indonesian Patients","volume":"28","author":"Sari","year":"2023","journal-title":"Eur. J. Med. Res."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1111\/ene.14587","article-title":"Clinical and Radiological Profile of Patients with Spinal Muscular Atrophy Type 4","volume":"28","author":"Souza","year":"2021","journal-title":"Eur. J. Neurol."},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Vazquez, G.A., Nasif, S., Marciano, S., and Pagotto, V. (2023). Sociodemographic and Clinical Characteristics and Access to Health Care in Patients with Spinal Muscular Atrophy in Argentina. Front. Neurol., 14.","DOI":"10.3389\/fneur.2023.1179692"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.nmd.2019.02.003","article-title":"Newborn Screening for SMA in Southern Belgium","volume":"29","author":"Boemer","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"503","DOI":"10.3233\/JND-190428","article-title":"One Year of Newborn Screening for SMA\u2014Results of a German Pilot Project","volume":"6","author":"Vill","year":"2019","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.nmd.2021.07.398","article-title":"Newborn Screening for Spinal Muscular Atrophy: The Wisconsin First Year Experience","volume":"32","author":"Baker","year":"2022","journal-title":"Neuromuscul. Disord."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"100725","DOI":"10.1016\/j.xcrm.2022.100725","article-title":"Timing Is Everything: Clinical Evidence Supports Pre-Symptomatic Treatment for Spinal Muscular Atrophy","volume":"3","author":"Motyl","year":"2022","journal-title":"Cell Rep. Med."},{"key":"ref_59","first-page":"E41","article-title":"Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy","volume":"63","author":"Rochmah","year":"2017","journal-title":"Kobe J. Med. Sci."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"847","DOI":"10.3233\/JND-230011","article-title":"Sex Difference in Spinal Muscular Atrophy Patients\u2014Are Males More Vulnerable?","volume":"10","author":"Sun","year":"2023","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1136\/jmg.15.6.414","article-title":"Genetic Studies of Acute Infantile Spinal Muscular Atrophy (SMA Type I). An Analysis of Sex Ratios, Segregation Ratios, and Sex Influence","volume":"15","author":"Pearn","year":"1978","journal-title":"J. Med. Genet."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1159\/000022956","article-title":"Consanguinity in South America: Demographic Aspects","volume":"51","author":"Liascovich","year":"2001","journal-title":"Hum. Hered."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/ajhb.22802","article-title":"Biosocial Correlates and Spatial Distribution of Consanguinity in South America","volume":"28","author":"Bronberg","year":"2016","journal-title":"Am. J. Hum. Biol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"32","DOI":"10.15446\/rsap.v19n1.55238","article-title":"Gen\u00e9tica cl\u00ednica comunitaria: Exploraci\u00f3n de patolog\u00eda gen\u00e9tica en Boyac\u00e1, Colombia","volume":"19","author":"Velasco","year":"2017","journal-title":"Rev. Salud P\u00fablica"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"241","DOI":"10.15446\/revfacmed.v67n2.68878","article-title":"Determinaci\u00f3n de endogamia mediante m\u00e9todo de isonimia en la poblaci\u00f3n de Runta, Boyac\u00e1, Colombia","volume":"67","author":"Torres","year":"2019","journal-title":"Rev. Fac. Med."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1002\/mgg3.139","article-title":"Genetics and Genomic Medicine in Colombia","volume":"3","author":"Restrepo","year":"2015","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_67","doi-asserted-by":"crossref","unstructured":"Chande, A.T., Nagar, S.D., Rishishwar, L., Mari\u00f1o-Ram\u00edrez, L., Medina-Rivas, M.A., Valderrama-Aguirre, A.E., Jordan, I.K., and Gallo, J.E. (2021). The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia. Front. Genet., 12.","DOI":"10.3389\/fgene.2021.690366"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/S0002-9297(07)62956-5","article-title":"Strong Amerind\/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia","volume":"67","author":"Soto","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Rishishwar, L., Conley, A.B., Wigington, C.H., Wang, L., Valderrama-Aguirre, A., and King Jordan, I. (2015). Ancestry, Admixture and Fitness in Colombian Genomes. Sci. Rep., 5.","DOI":"10.1038\/srep12376"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"e161","DOI":"10.1097\/PCC.0b013e3182388ad1","article-title":"Spinal Muscular Atrophy Type 1: Are Proactive Respiratory Interventions Associated with Longer Survival?","volume":"13","author":"Lemoine","year":"2012","journal-title":"Pediatr. Crit. Care Med."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"247","DOI":"10.4187\/respcare.10353","article-title":"Management of Critically Ill Patients with Spinal Muscular Atrophy Admitted with Acute Respiratory Failure","volume":"68","author":"Adams","year":"2023","journal-title":"Respir. Care"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"62","DOI":"10.17712\/nsj.2018.1.20170103","article-title":"Respiratory Support Attitudes among Pediatric Intensive Care Staff for Spinal Muscular Atrophy Patients in Saudi Arabia","volume":"23","author":"Temsah","year":"2018","journal-title":"Neurosciences"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"e587","DOI":"10.1212\/WNL.0000000000011051","article-title":"Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study","volume":"96","author":"Trucco","year":"2021","journal-title":"Neurology"},{"key":"ref_74","doi-asserted-by":"crossref","unstructured":"Corsello, A., Scatigno, L., Pascuzzi, M.C., Calcaterra, V., Dilillo, D., Vizzuso, S., Pelizzo, G., Zoia, E., Mandelli, A., and Govoni, A. (2021). Nutritional, Gastrointestinal and Endo-Metabolic Challenges in the Management of Children with Spinal Muscular Atrophy Type 1. Nutrients, 13.","DOI":"10.20944\/preprints202106.0184.v1"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"e530","DOI":"10.1212\/NXG.0000000000000530","article-title":"Practical Guidelines to Manage Discordant Situations of SMN2 Copy Number in Patients with Spinal Muscular Atrophy","volume":"6","author":"Bernal","year":"2020","journal-title":"Neurol. Genet."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/humu.20330","article-title":"MLPA: A Rapid, Reliable, and Sensitive Method for Detection and Analysis of Abnormalities of 22q","volume":"27","author":"Jalali","year":"2006","journal-title":"Hum. Mutat."},{"key":"ref_77","doi-asserted-by":"crossref","unstructured":"Gomez, A., and Korf, B. (2018). Genetic Testing Techniques. Pediatr. Cancer Genet., 47\u201364.","DOI":"10.1016\/B978-0-323-48555-5.00005-3"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"3245","DOI":"10.3390\/ijms13033245","article-title":"Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases","volume":"13","author":"Stuppia","year":"2012","journal-title":"Int. J. Mol. Sci."},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"Zhao, S., Wang, Y., Xin, X., Fang, Z., Fan, L., Peng, Z., Han, R., Shi, C., Zhang, Y., and Fan, C. (2022). Next Generation Sequencing Is a Highly Reliable Method to Analyse Exon 7 Deletion of Survival Motor Neuron 1 (SMN1) Gene. Sci. Rep., 12.","DOI":"10.1038\/s41598-021-04325-1"},{"key":"ref_80","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_81","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/j.ejpn.2016.07.017","article-title":"Genotype\u2013Phenotype Correlation of SMN Locus Genes in Spinal Muscular Atrophy Children from Argentina","volume":"20","author":"Medrano","year":"2016","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"100299","DOI":"10.1016\/j.gimo.2023.100299","article-title":"P271: Beyond SMN1: Review of Genotype-Phenotype Correlation in Individuals with \u22654 SMN2 Copy Numbers","volume":"1","author":"Powis","year":"2023","journal-title":"Genet. Med. Open"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1111\/j.1399-0004.2009.01200.x","article-title":"Genotype\u2013Phenotype Studies in Infantile Spinal Muscular Atrophy (SMA) Type I in Germany: Implications for Clinical Trials and Genetic Counselling","volume":"76","author":"Berg","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"33","DOI":"10.3233\/JND-190399","article-title":"Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings from the Cure SMA Cohort","volume":"7","author":"Jones","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_85","doi-asserted-by":"crossref","unstructured":"Savad, S., Ashrafi, M.R., Samadaian, N., Heidari, M., Modarressi, M.-H., Zamani, G., Amidi, S., Younesi, S., Amin MM, T., and Saadati, P. (2023). A Comprehensive Overview of SMN and NAIP Copy Numbers in Iranian SMA Patients. Sci. Rep., 13.","DOI":"10.1038\/s41598-023-30449-7"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.braindev.2008.08.012","article-title":"Combination of SMN2 Copy Number and NAIP Deletion Predicts Disease Severity in Spinal Muscular Atrophy","volume":"31","author":"Watihayati","year":"2009","journal-title":"Brain Dev."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.ajhg.2017.01.005","article-title":"Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis","volume":"100","author":"Riessland","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"859","DOI":"10.2298\/VSP140328072Z","article-title":"Association between the SMN2 Gene Copy Number and Clinical Characteristics of Patients with Spinal Muscular Atrophy with Homozygous Deletion of Exon 7 of the SMN1 Gene","volume":"72","author":"Zarkov","year":"2015","journal-title":"Vojnosanit. Pregl."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/emm.2005.20","article-title":"Genotype-Phenotype Correlation of SMN Locus Genes in Spinal Muscular Atrophy Patients from India","volume":"37","author":"Kesari","year":"2005","journal-title":"Exp. Mol. Med."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/mus.21832","article-title":"Insights into Genotype\u2013Phenotype Correlations in Spinal Muscular Atrophy: A Retrospective Study of 103 Patients","volume":"43","author":"Petit","year":"2011","journal-title":"Muscle Nerve"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"103","DOI":"10.18388\/abp.2009_2521","article-title":"Phenotype Modifiers of Spinal Muscular Atrophy: The Number of SMN2 Gene Copies, Deletion in the NAIP Gene and Probably Gender Influence the Course of the Disease","volume":"56","author":"Jedrzejowska","year":"2009","journal-title":"Acta Biochim. Pol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1111\/j.1651-2227.2008.01201.x","article-title":"A Population-based Study of Genotypic and Phenotypic Variability in Children with Spinal Muscular Atrophy","volume":"98","author":"Arkblad","year":"2009","journal-title":"Acta Paediatr."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.ejpn.2011.07.007","article-title":"Correlation of SMN2, NAIP, P44, H4F5 and Occludin Genes Copy Number with Spinal Muscular Atrophy Phenotype in Tunisian Patients","volume":"16","author":"Amara","year":"2012","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","article-title":"Mildly Affected Patients with Spinal Muscular Atrophy Are Partially Protected by an Increased SMN2 Copy Number","volume":"119","author":"Wirth","year":"2006","journal-title":"Hum. Genet."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"e18809","DOI":"10.1097\/MD.0000000000018809","article-title":"The Analysis of the Association between the Copy Numbers of Survival Motor Neuron Gene 2 and Neuronal Apoptosis Inhibitory Protein Genes and the Clinical Phenotypes in 40 Patients with Spinal Muscular Atrophy: Observational Study","volume":"99","author":"Zhang","year":"2020","journal-title":"Medicine"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1007\/s00415-002-0811-4","article-title":"Correlation between SMN2 Copy Number and Clinical Phenotype of Spinal Muscular Atrophy: Three SMN2 Copies Fail to Rescue Some Patients from the Disease Severity","volume":"249","author":"Harada","year":"2002","journal-title":"J. Neurol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/mus.21350","article-title":"An Analysis of Disease Severity Based on SMN2 Copy Number in Adults with Spinal Muscular Atrophy","volume":"40","author":"Elsheikh","year":"2009","journal-title":"Muscle Nerve"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"97","DOI":"10.3233\/JND-190468","article-title":"Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2","volume":"7","author":"Glascock","year":"2020","journal-title":"J. Neuromuscul. Dis."}],"updated-by":[{"DOI":"10.3390\/jcm15135062","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T00:00:00Z","timestamp":1729814400000}}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/21\/6402\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T11:33:11Z","timestamp":1783423991000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/21\/6402"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,25]]},"references-count":99,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2024,11]]}},"alternative-id":["jcm13216402"],"URL":"https:\/\/doi.org\/10.3390\/jcm13216402","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,25]]}}}