Distrofia Muscular de Duchenne
Duchenne Muscular Dystrophy
DOI:
https://doi.org/10.51473/rcmos.v1i1.2025.808Palavras-chave:
Distrofia Muscular de Duchenne, Patologia, DistrofinaResumo
A distrofia muscular de Duchenne (DMD) é uma patologia recessiva ligada ao X, progressiva e incurável que afeta principalmente os músculos esqueléticos. A distrofina, uma proteína estrutural que está relacionada à estabilização da contração muscular, está ausente ou alterada na DMD. Pacientes afetados por essa distrofia apresentam perda de massa muscular, prejudicando a capacidade de correr, subir escadas e saltar, culminando em um confinamento à cadeira de rodas, em média aos 12 anos de idade. Devido à imobilidade e inatividade dos músculos respiratórios, esses pacientes vão a óbito em decorrência de complicações respiratórias. Diversas estratégias terapêuticas têm sido estudadas a fim de melhorar a qualidade de vida desses pacientes e seus prognósticos. O presente estudo consiste em uma revisão bibliográfica, abordando os aspectos principais da patologia e apontando algumas das diversas estratégias terapêuticas atuais.
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