DOENÇAS NEUROMUSCULARES HEREDITÁRIAS: INOVAÇÕES DIAGNÓSTICAS, TERAPIAS AVANÇADAS E ACOMPANHAMENTO LONGITUDINAL — REVISÃO INTEGRATIVA
DOI:
https://doi.org/10.71248/fq1fe516Palavras-chave:
Atrofia Muscular Espinal, Doenças Neuromusculares, Distrofia Muscular de Duchenne, Terapia Genética, Triagem NeonatalResumo
As doenças neuromusculares hereditárias compõem um grupo heterogêneo de condições raras, progressivas e frequentemente diagnosticadas tardiamente, cujo cenário terapêutico foi transformado por terapias gênicas e moleculares. Este estudo teve como objetivo analisar as evidências científicas recentes sobre inovações diagnósticas, terapias avançadas e acompanhamento longitudinal nessas doenças. Trata-se de revisão integrativa da literatura, com busca realizada em outubro de 2026 na PubMed/MEDLINE, contemplando revisões sistemáticas e metanálises publicadas entre 2021 e 2026. Dos 40 registros identificados, 22 estudos foram incluídos, com predomínio da atrofia muscular espinhal (n = 17). Os achados foram organizados em três categorias: a triagem neonatal genética, sobretudo para atrofia muscular espinhal, mostrou elevada acurácia, viabilidade e custo-efetividade, e o tratamento pré-sintomático associou-se a melhores marcos motores; as terapias modificadoras da doença (nusinersena, risdiplam, onasemnogeno abeparvoveque e delandistrogeno moxeparvoveque) produziram ganhos motores consistentes, com perfil de segurança aceitável e ausência de superioridade comprovada entre elas; e o acompanhamento longitudinal evidenciou benefícios motores sustentados por quatro a cinco anos de seguimento, mas resultados respiratórios, bulbares e de qualidade de vida ainda inconsistentes. Conclui-se que diagnóstico precoce, tratamento oportuno e seguimento multidisciplinar padronizado formam um continuum indispensável ao cuidado.
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