Andrés E Nascimento Osorio, Graciela Barros Acevedo, María de Los Ángeles Beytía, Edna J Bobadilla Quesada, Sandra M Castellar-Leones, Claudia Castiglioni, Marco J Casartelli Galeano, Guilca Contreras Caicedo, María Fernanda Cordero Molina, Rosa E Escobar Cedillo, Francisco Espinel, Nicholas Earle, Carlos A Franco Toñanez, Henry H Galvez Quiñonez, Juliana Gurgel-Giannetti, Alfonso P Gutiérrez Mata, María C Hervias Ruz, Javier E Linzoain, Mariela A Lucero, Conrado Medici, Sandra C Mesa Restrepo, María E Meza Cano, Soledad Monges, Leticia M Munive Baez, Lourdes I Núñez Antelo, Rogelio R Odales Ibarra, Verónica D Artiga-Rodríguez, Eva S Pérez Almengor, Peggy C Martínez Esteban, Diana Ramírez-Montaño, Rodrigo Moreno-Salgado, Matilde Ruiz García, Verónica Sáez Galaz, Edwin S Vargas Cañas, Jorge A Bevilacqua, Edmar Zanoteli, Carol J Zuniga García, María R Gueçaimburu, Mario Gutiérrez-Saenz, Jesús A Armijo Gómez
{"title":"Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America.","authors":"Andrés E Nascimento Osorio, Graciela Barros Acevedo, María de Los Ángeles Beytía, Edna J Bobadilla Quesada, Sandra M Castellar-Leones, Claudia Castiglioni, Marco J Casartelli Galeano, Guilca Contreras Caicedo, María Fernanda Cordero Molina, Rosa E Escobar Cedillo, Francisco Espinel, Nicholas Earle, Carlos A Franco Toñanez, Henry H Galvez Quiñonez, Juliana Gurgel-Giannetti, Alfonso P Gutiérrez Mata, María C Hervias Ruz, Javier E Linzoain, Mariela A Lucero, Conrado Medici, Sandra C Mesa Restrepo, María E Meza Cano, Soledad Monges, Leticia M Munive Baez, Lourdes I Núñez Antelo, Rogelio R Odales Ibarra, Verónica D Artiga-Rodríguez, Eva S Pérez Almengor, Peggy C Martínez Esteban, Diana Ramírez-Montaño, Rodrigo Moreno-Salgado, Matilde Ruiz García, Verónica Sáez Galaz, Edwin S Vargas Cañas, Jorge A Bevilacqua, Edmar Zanoteli, Carol J Zuniga García, María R Gueçaimburu, Mario Gutiérrez-Saenz, Jesús A Armijo Gómez","doi":"10.31083/RN53782","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>5q spinal muscular atrophy (5q SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (<i>SMN1</i>), leading to deficiency of SMN protein and a variable clinical spectrum influenced by survival motor neuron 2 gene (<i>SMN2</i>) 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.</p><p><strong>Methods: </strong>A regional expert panel conducted a formal consensus process (2025-2026) through iterative questionnaires and structured discussions. Agreement was defined as ≥70% concordance. Additionally, a regional survey assessed access to diagnostic and therapeutic resources.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>This consensus provides a practical and adaptable framework to optimize SMA care in LATAM, supporting longitudinal, patient-centered clinical decision-making.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 9","pages":"53782"},"PeriodicalIF":0.6000,"publicationDate":"2026-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13653183/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista de neurologia","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.31083/RN53782","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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 (2025-2026) through iterative questionnaires and structured discussions. Agreement was defined as ≥70% 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.
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