Evolução motora de duas crianças com Atrofia Muscular Espinhal Tipo I tratadas com terapia genética
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Resumo
Objetivo: Avaliar a evolução da função motora de crianças com Atrofia Muscular Espinhal Tipo I, após infusão medicamentosa com o fármaco Zolgensma. Detalhamentos dos casos: Trata-se de um estudo de 2 pacientes, sendo avaliada a função motora com a escala Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders antes da medicação e após 2 e 6 meses. Os pacientes tinham em média 2,4 ±1,69 anos, apresentavam hipotonia de membros inferiores e superiores, dificuldade no controle cervical e nos movimentos de rolar e sentar. Considerações finais: Este estudo demonstrou que pacientes com atrofia muscular espinhal tipo I, mesmo com baixa sobrevida segundo a literatura, obtiveram ganhos na escala Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders e a aquisição de marcos motores. Entretanto, o estudo é limitado pela seleção amostral intencional dos pacientes e devido ao curto prazo de avaliação, sendo necessário trabalhos que monitorem os resultados ao longo prazo.
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