POR JÉSSIE COSTA – ASCOM/INPRESS (jessie.costa@inpresspni.com.br)
A Atrofia Muscular Espinhal (AME) é uma doença genética com incidência aproximada de 1 em cada 11.000 nascimentos vivos.
É a maior causa genética de mortalidade infantil, uma doença progressiva e incapacitante que compromete a mobilidade, a respiração e a deglutição, além de gerar um impacto psicológico profundo para pacientes e familiares. Atualmente, estima-se que a prevalência da AME Tipo 1 e 2 é de 100.000 pessoas no Brasil, de acordo com o Ministério da Saúde.
Sem os cuidados adequados, a AME pode comprometer significativamente a qualidade de vida e autonomia dos pacientes, com potencial de ser letal. A raridade da doença, contudo, gera um desconhecimento entre a sociedade, e até mesmo entre profissionais de saúde.
“A AME é uma doença genética rara”
VERDADE. A AME afeta aproximadamente de 1 em cada 10.000 nascimentos vivos, portanto, é considerada uma doença rara. As pessoas que vivem com AME têm a ausência ou a deficiência de um gene chamado SMN1, portanto não conseguem produzir a proteína SMN adequadamente, o que leva à morte dos neurônios motores.
Os neurônios motores são as células que controlam as atividades musculares essenciais como andar, falar, engolir e respirar, e precisam da proteína SMN, que é o seu “alimento”. No organismo, o principal responsável por produzir a proteína SMN é justamente o gene SMN1.
“A AME só afeta bebês e crianças”.
MITO. Embora a AME seja frequentemente diagnosticada em bebês e crianças devido à gravidade de alguns tipos da doença, a condição pode se manifestar em qualquer fase da vida. O diagnóstico em idades mais avançadas costuma ser mais desafiador, pois os sintomas podem ser mais sutis e confundidos com outras condições neuromusculares.
A AME é classificada em cinco tipos (0, I, II, III e IV), de acordo com a idade em que os sintomas se desenvolvem e de acordo com o máximo marco motor alcançado. Nos casos mais graves (tipos 0 e I), problemas motores e respiratórios se desenvolvem já nos primeiros meses de vida.
Na AME tipo 3, que representa cerca de 13% dos novos portadores da mutação, o surgimento dos sintomas acontece após os 18 meses de idade e, em alguns casos, durante a vida adulta. Essas pessoas adquirem a capacidade de ficar em pé e andar, mas devido à progressão da doença, podem perder essa habilidade ao longo da vida. Os principais sintomas podem incluir fraqueza muscular, dor muscular e escoliose.
Já a AME tipo 4, por sua vez, é marcada por uma progressão lenta dos sintomas, que tendem a aparecer somente na vida adulta.
“É importante que a AME seja diagnosticada o mais cedo possível”.
VERDADE. Com o avanço da ciência, surgiram terapias para a AME que podem alterar o curso da doença. Esses tratamentos são mais eficazes quando iniciados o mais cedo possível, antes que ocorra uma perda significativa de neurônios motores. Quanto mais cedo o tratamento for iniciado, maior a chance de preservar a função muscular e melhorar a sobrevida e qualidade de vida. Nos casos mais graves, a ausência de tratamento pode levar a uma morte prematura.
A confirmação da AME só é possível com o teste genético molecular; porém, a investigação começa na triagem neonatal, capaz de detectar a doença ainda na fase pré‑sintomática. O Teste do Pezinho oferecido pelo SUS está sendo ampliado para incluir 53 doenças, entre elas a AME.
Alguns estados, como o Distrito Federal e Minas Gerais já incorporam a AME à triagem neonatal, enquanto São Paulo conduziu projetos piloto nos últimos anos. Quando o resultado da triagem é positivo, ele é confirmado por exame genético, permitindo que o tratamento se inicie o mais cedo possível.
“Pessoas com AME têm expectativa de vida curta”
MITO. Essa afirmação já foi uma realidade no passado recente, especialmente entre as pessoas com as formas mais graves da doença, mas os avanços no tratamento da AME mudaram drasticamente esse cenário. O diagnóstico precoce e o acesso às terapias modificadoras da doença, além de uma abordagem com equipe multidisciplinar, oferecem a possibilidade de uma vida significativamente mais longa e com melhor qualidade para muitas pessoas com AME.
Atualmente, a expectativa depende do tipo de AME, da precocidade do diagnóstico e do acesso aos cuidados adequados.
“Existe cura para a AME”.
MITO. A AME não tem cura, e os neurônios perdidos não podem ser regenerados. Apesar disso, os cuidados adequados e no tempo certo podem estabilizar a progressão da doença e melhorar a qualidade de vida e a autonomia do paciente.
Embora a palavra “cura” ainda não seja uma realidade, é importante reforçar que as terapias atuais oferecem esperança e a possibilidade de uma vida substancialmente melhor para as pessoas com AME.
“Existem tratamentos eficazes para AME disponíveis gratuitamente”
VERDADE. Atualmente, o SUS oferece acesso a três terapias modificadoras da doença que podem melhorar significativamente a qualidade de vida e a sobrevida de pessoas com AME. O acesso a esses tratamentos no SUS segue critérios clínicos definidos em Protocolos Clínicos e Diretrizes Terapêuticas (PCDTs), estabelecidos pelo Ministério da Saúde.
É importante ressaltar que, até o momento, não é possível afirmar que algum tratamento é mais eficaz, visto que não há estudos comparativos entre as terapias ou evidências clínicas que apontem para tanto.
Portanto, é fundamental que pacientes com AME e suas famílias busquem informações, para entender os critérios de acesso e as opções de tratamento disponíveis no sistema público.
“Pessoas com AME não podem realizar atividades físicas ou esportes.
MITO. Pessoas com AME não apenas podem, como em muitos casos, se beneficiam da realização de atividades físicas e esportes adaptados.
É verdade que, nos tipos mais graves da doença, ou quando os sintomas já avançaram muito, o paciente pode ficar impossibilitado de praticar atividades físicas, mas boa parte das pessoas com AME podem, sim, praticar diversos tipos de esportes. Entre os principais benefícios da atividade física para pessoas com AME, estão a manutenção da força muscular e a melhora da mobilidade e flexibilidade, além da saúde cardiovascular e o bem-estar mental e emocional.
Há inúmeros exemplos de pessoas com AME que levam vidas ativas e participam de esportes adaptados em diferentes níveis, inclusive profissionalmente. Essas histórias inspiradoras demonstram que, com as adaptações e os cuidados adequados, é possível superar as limitações impostas pela condição e desfrutar dos benefícios da atividade física.
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