{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:06:06Z","timestamp":1790701566003,"version":"4.1.0"},"reference-count":56,"publisher":"IMR Press","issue":"9","license":[{"start":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:00:00Z","timestamp":1790121600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Roche and Novartis"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev. Neurol."],"abstract":"<jats:p>Background: 5q spinal muscular atrophy (5q SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (SMN1), leading to deficiency of SMN protein and a variable clinical spectrum influenced by survival motor neuron 2 gene (SMN2) copy number. The advent of disease-modifying therapies (DMTs) has transformed its clinical course, requiring timely diagnosis, multidisciplinary care, and longitudinal response assessment. In Latin America (LATAM), significant gaps and heterogeneity persist in access to genetic diagnosis, newborn screening, DMTs, and specialized follow-up. To develop a Latin American consensus providing recommendations for diagnosis, comprehensive management (respiratory, swallowing\/nutrition, rehabilitation, and DMTs), and evaluation of response to DMTs in patients with SMA, incorporating real-world access considerations. Methods: A regional expert panel conducted a formal consensus process (2025\u20132026) through iterative questionnaires and structured discussions. Agreement was defined as \u226570% concordance. Additionally, a regional survey assessed access to diagnostic and therapeutic resources. Results: Forty professionals from 15 countries participated. While 90% reported access to genetic testing (MLPA), only 35% indicated availability within the public healthcare system; private access and pharmaceutical industry support were also reported as pathways to testing. No participating country reported nationwide implementation of newborn screening for SMA; 22.5% of respondents reported pilot programs or future implementation proposals. Access to at least one DMT was reported by 92.5% of respondents; however, delays between diagnosis and treatment initiation were frequent and remain an important challenge across the region. Consensus recommendations were established for diagnosis, functionally stratified multidisciplinary care, and response assessment based on motor and non-motor domains using validated tools and individualized follow-up. Conclusions: This consensus provides a practical and adaptable framework to optimize SMA care in LATAM, supporting longitudinal, patient-centered clinical decision-making.<\/jats:p>","DOI":"10.31083\/rn53782","type":"journal-article","created":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:33:19Z","timestamp":1790699599000},"source":"Crossref","is-referenced-by-count":0,"title":["Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America"],"prefix":"10.31083","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4952-5732","authenticated-orcid":true,"given":"Andr\u00e9s E.","family":"Nascimento Osorio","sequence":"first","affiliation":[{"name":"Unidad de Neuromuscular, Hospital Sant Joan de D\u00e9u; Group of Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de D\u00e9u, 08950 Barcelona, Espa\u00f1a"},{"name":"Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, 08036 Barcelona, Espa\u00f1a"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graciela","family":"Barros Acevedo","sequence":"additional","affiliation":[{"name":"Centro Hospitalario Pereira Rossell, Instituto de Neurolog\u00eda, 11600 Montevideo, Uruguay"},{"name":"Telet\u00f3n Uruguay, 11600 Montevideo, Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda de los \u00c1ngeles","family":"Beyt\u00eda","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Neurolog\u00eda Pedi\u00e1trica, Divisi\u00f3n de Pediatr\u00eda, Escuela de Medicina, Pontificia Universidad Cat\u00f3lica de Chile, 8331150 Santiago, Chile"},{"name":"Unidad de Neurolog\u00eda Pedi\u00e1trica, Servicio de Pediatr\u00eda, Hospital Dr. S\u00f3tero del R\u00edo, 8150215 Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edna J.","family":"Bobadilla Quesada","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda, Fundaci\u00f3n 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