Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Nascimento Osorio Andrés E, Barros Acevedo Graciela, Beytía María de Los Ángeles, Bobadilla Quesada Edna J, Castellar-Leones Sandra M, Castiglioni Claudia, Casartelli Galeano Marco J, Contreras Caicedo Guilca, Cordero Molina María Fernanda, Escobar Cedillo Rosa E, Espinel Francisco, Earle Nicholas, Franco Toñanez Carlos A, Galvez Quiñonez Henry H, Gurgel-Giannetti Juliana, Gutiérrez Mata Alfonso P, Hervias Ruz María C, Linzoain Javier E, Lucero Mariela A, Medici Conrado, Mesa Restrepo Sandra C, Meza Cano María E, Monges Soledad, Munive Baez Leticia M, Núñez Antelo Lourdes I, Odales Ibarra Rogelio R, Artiga-Rodríguez Verónica D, Pérez Almengor Eva S, Martínez Esteban Peggy C, Ramírez-Montaño Diana, Moreno-Salgado Rodrigo, Ruiz García Matilde, Sáez Galaz Verónica, Vargas Cañas Edwin S, Bevilacqua Jorge A, Zanoteli Edmar, Zuniga García Carol J, Gueçaimburu María R, Gutiérrez-Saenz Mario, Armijo Gómez Jesús A
Аннотация
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.