Tratamento pré-sintomático da atrofia muscular espinhal tipo 1 – Revisão da literatura
DOI:
https://doi.org/10.25753/BirthGrowthMJ.v32.i4.28929Palavras-chave:
atrofia muscular espinhal da infância, atrofia muscular espinhal tipo I, nusinersen, onasemnogene abeparvovec, risdiplamResumo
A atrofia muscular espinhal (AME) é a principal causa monogénica de morte na infância, sendo a AME1 a forma mais comum desta patologia. A doença é causada por uma variante patogénica no gene survival motor neuron (SMN) 1, que resulta na ausência de proteína SMN funcional, e caracteriza-se por uma perda rápida e irreversível dos neurónios motores. Os sintomas incluem fraqueza, hipotonia e ausência ou atraso na aquisição de marcos motores precoces, o que impede os doentes de ser capazes de se sentar de forma independente. Fraqueza dos músculos respiratórios, fasciculações da língua e dificuldades na deglutição são comuns. O diagnóstico é estabelecido com base no teste molecular genético. Têm sido implementados programas de rastreio neonatal em alguns países, que visam permitir um diagnóstico precoce e são extremamente fiáveis. Antes do desenvolvimento de terapêuticas modificadoras da doença, a progressão natural da AME resultava em fraqueza com insuficiência respiratória e morte antes dos 2 anos de idade na maioria dos doentes. Os fármacos modificadores da doença reduzem a necessidade de suporte ventilatório e nutricional, resultando também em ganhos na função motora. Estes benefícios são mais evidentes em doentes que recebem tratamento precoce, antes da manifestação de sintomas. Estas evidências reforçam a necessidade de programas de rastreio neonatal, uma vez que o tratamento é altamente eficaz a reduzir a necessidade de tratamento de suporte, diminuindo assim o custo total da terapêutica.
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