{"id":21,"date":"2024-07-24T09:47:00","date_gmt":"2024-07-24T12:47:00","guid":{"rendered":"https:\/\/conteudosportal.com.br\/atrofia-muscular-espinhal-ame\/?p=21"},"modified":"2025-11-12T11:12:55","modified_gmt":"2025-11-12T14:12:55","slug":"o-que-e-atrofia-muscular-espinhal","status":"publish","type":"post","link":"https:\/\/saude.novartis.com.br\/atrofia-muscular-espinhal-ame\/o-que-e-atrofia-muscular-espinhal\/","title":{"rendered":"O que \u00e9 atrofia muscular espinhal?"},"content":{"rendered":"<p>A atrofia muscular espinhal (AME) \u00e9 uma doen\u00e7a gen\u00e9tica que causa a morte de algumas c\u00e9lulas espec\u00edficas do nosso sistema nervoso, conhecidas como neur\u00f4nios motores.<sup>1,2<\/sup><\/p>\r\n<p>A maioria dos neur\u00f4nios motores est\u00e3o localizados na medula espinhal e controlam o movimento dos m\u00fasculos, principalmente das pernas e dos bra\u00e7os e, tamb\u00e9m outros m\u00fasculos, que nos ajudam a respirar e comer, por exemplo, e tamb\u00e9m est\u00e3o envolvidos em atividades musculares como andar, falar, engolir e respirar.<sup>1-3<\/sup><\/p>\r\n<p>A AME \u00e9 uma doen\u00e7a considerada rara que afeta aproximadamente 1 em cada 10.000 beb\u00eas nascidos em todo o mundo.<sup>2<\/sup> Apesar de ser considerada rara, a AME \u00e9 a principal causa gen\u00e9tica de mortalidade infantil.<sup>2-4<\/sup><\/p>\r\n<p><img decoding=\"async\" src=\"https:\/\/saude.novartis.com.br\/atrofia-muscular-espinhal-ame\/wp-content\/uploads\/sites\/29\/2024\/07\/01_oquee_atrofiamuscularespinhal2.png\" \/><small><i>*Imagem adaptada de: Chaudhary R, Agarwal V, Rehman M, Kaushik AS, Mishra V. Genetic architecture of motor neuron diseases. J Neurol Sci. 2022;434:120099. Imagem adaptada de Gettyimages.com.br, acesso em Julho 2024.<sup>8<\/sup><\/i><\/small><\/p>\r\n<h3>O que acontece sem os neur\u00f4nios motores?<sup>1,2<\/sup><\/h3>\r\n<p>Sem o comando dos neur\u00f4nios motores, os m\u00fasculos perdem a for\u00e7a (se tornam hipot\u00f4nicos), ficam cada vez mais fracos e acabam perdendo tamb\u00e9m a massa muscular, ou seja, atrofiam.<\/p>\r\n<h3>O que causa a AME e quando ela come\u00e7a?<\/h3>\r\n<p>A AME \u00e9 causada por um gene anormal ou ausente, o gene SMN1. Esse gene \u00e9 respons\u00e1vel pela produ\u00e7\u00e3o de uma prote\u00edna essencial para a sobreviv\u00eancia dos neur\u00f4nios motores, chamada de prote\u00edna de sobreviv\u00eancia do neur\u00f4nio motor ou prote\u00edna SMN.<sup>1,2<\/sup><\/p>\r\n<p>A AME pode come\u00e7ar a se manifestar em diferentes fases da vida, e os sintomas da doen\u00e7a podem aparecer j\u00e1 nos primeiros meses ap\u00f3s o nascimento. A idade em que os sintomas come\u00e7am tem rela\u00e7\u00e3o com a classifica\u00e7\u00e3o e a gravidade da doen\u00e7a. A fraqueza muscular \u00e9 a principal caracter\u00edstica e ela \u00e9 progressiva, ou seja, piora com o tempo.<sup>1,3<\/sup> Os tipos mais graves de AME podem afetar m\u00fasculos envolvidos na alimenta\u00e7\u00e3o e respira\u00e7\u00e3o e at\u00e9 levar \u00e0 paralisia.<sup>1,2,4<\/sup><\/p>\r\n<h3>AME \u00e9 transmiss\u00edvel?<\/h3>\r\n<p>Como explicamos acima, a AME \u00e9 uma doen\u00e7a gen\u00e9tica e \u00e9 heredit\u00e1ria, o que significa que \u00e9 transmitida de pais para os filhos por meio dos genes. Portanto, a AME n\u00e3o pode ser &#8220;transmitida&#8221; de uma pessoa doente para outra saud\u00e1vel.<sup>1,2<\/sup><\/p>\r\n<h3>AME tem cura?<\/h3>\r\n<p>Atualmente, n\u00e3o existe cura para a AME, mas existem tratamentos. O manejo da AME depender\u00e1 da gravidade da doen\u00e7a e de seus sintomas, podendo incluir, al\u00e9m do tratamento farmacol\u00f3gico, o acompanhamento multidisciplinar como cuidados respirat\u00f3rios, ortop\u00e9dicos, fisioterapia, controle nutricional, entre outros.<sup>5,6,7<\/sup><\/p>\r\n<p>&nbsp;<\/p>\r\n<hr class=\"wp-block-separator has-css-opacity\" \/>\r\n<p><strong>Refer\u00eancias<\/strong><\/p>\r\n<p><strong>1.<\/strong> National Library of Medicine. Spinal muscular atrophy. Dispon\u00edvel em: Spinal muscular atrophy &#8211; PubMed (nih.gov). Acesso: julho de 2024 <strong>2.<\/strong> INAME &#8211; Instituto Nacional de Atrofia Muscular Espinhal. O que \u00e9 AME. Dispon\u00edvel em: O que \u00e9 AME &#8211; INAME &#8211; Instituto Nacional de Atrofia Muscular Espinhal Acesso: julho de 2024. <strong>3.<\/strong> Rede D&#8217;or S\u00e3o Luiz. Atrofia Muscular Espinhal: O que \u00e9, sintomas, tratamentos e causas. Dispon\u00edvel em: Atrofia Muscular Espinhal: O que \u00e9, sintomas, tratamentos e causas. (rededorsaoluiz.com.br). Acesso: julho de 2024. <strong>4.<\/strong> National Library of Medicine. Disease mechanisms and therapeutic approaches in spinal muscular atrophy]. Dispon\u00edvel em: Disease mechanisms and therapeutic approaches in spinal muscular atrophy &#8211; PubMed (nih.gov) Acesso: julho de 2024 <strong>5.<\/strong> National Library of Medicine. Diagnosis and management of spinai muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Dispon\u00edvel em: Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care &#8211; PubMed (nih.gov) Acesso: julho de 2024 <strong>6.<\/strong> National Library of Medicine. Diagnosis and management of spinai muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Dispon\u00edvel em: Diagnosis and management of spinal muscular atrophy: Pari 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics &#8211; PubMed {nih.gov) Acesso: julho de 2024 <strong>7.<\/strong> The Lancet Neurology. Challenges and opportunities in spinal muscular atrophy therapeutics. Dispon\u00edvel em: Challenges and opportunities in spinal muscular atrophy therapeutics &#8211; ScienceDirect Acesso: julho de 2024. <strong>8.<\/strong> Imagem adaptada de: Chaudhary R, Agarwal V, Rehman M, Kaushik AS, Mishra Genetic architecture of motor neuron diseases. J Neural Sei. 2022;434:120099 &#8211; com imagens de banco de imagens <em><strong>Gettyimages<\/strong><\/em>. Acesso em julho de 2024.<\/p>\r\n<p><small>Material destinado ao p\u00fablico leigo. 2024 \u00a9 Direitos Reservados Novartis Bioci\u00eancias S\/A &#8211; Proibida a reprodu\u00e7\u00e3o total ou parcial n\u00e3o autorizada. Produzido em julho\/2024.<\/small><\/p>\r\n<hr class=\"wp-block-separator has-css-opacity\" \/>\r\n<p>BR-29668<\/p>","protected":false},"excerpt":{"rendered":"<p>A atrofia muscular espinhal (AME) \u00e9 uma doen\u00e7a gen\u00e9tica que causa a morte de algumas&#8230;<\/p>\n","protected":false},"author":2,"featured_media":468,"comment_status":"open","ping_status":"open","sticky":false,"template":"single-largura-total.php","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[3],"tags":[],"class_list":["post-21","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-o-que-e-ame"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.1 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>O que \u00e9 atrofia muscular espinhal? - Atrofia Muscular Espinhal - AME<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/saude.novartis.com.br\/atrofia-muscular-espinhal-ame\/o-que-e-atrofia-muscular-espinhal\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"O que \u00e9 atrofia muscular espinhal? - 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