{"id":425,"date":"2022-04-27T09:55:00","date_gmt":"2022-04-27T12:55:00","guid":{"rendered":"https:\/\/mktpatricia.rbmkt.com.br\/?p=425"},"modified":"2025-06-02T13:30:27","modified_gmt":"2025-06-02T16:30:27","slug":"a-atrofia-muscular-espinhal-ame-e-uma-doenca-genetica","status":"publish","type":"post","link":"https:\/\/patriciacrippa.com.br\/en\/a-atrofia-muscular-espinhal-ame-e-uma-doenca-genetica\/","title":{"rendered":"Is Spinal Muscular Atrophy (SMA) a genetic disease?"},"content":{"rendered":"<div data-elementor-type=\"wp-post\" data-elementor-id=\"425\" class=\"elementor elementor-425\" data-elementor-post-type=\"post\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-235b1f7 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"235b1f7\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-a80eed9\" data-id=\"a80eed9\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4e93706 elementor-widget elementor-widget-text-editor\" data-id=\"4e93706\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Have you ever wondered what is behind the cause of Spinal Muscular Atrophy (SMA)? \ud83e\udd14This understanding was essential to provide the development of efficient therapies, and I think it's important to share this issue with you, followers.\ud83d\udc47<\/p>\n<p>in the patient with&nbsp;<a class=\"xil3i\" tabindex=\"0\" href=\"https:\/\/www.instagram.com\/explore\/tags\/ame\/\">#AME<\/a>, there is a loss of spinal cord cells \u2014 motor neurons \u2014 which leads to progressive muscle weakness and atrophy, as the muscles stop receiving signals from the Central Nervous System.<\/p>\n<p>\u27a1 SMA is caused by a&nbsp;<a class=\"xil3i\" tabindex=\"0\" href=\"https:\/\/www.instagram.com\/explore\/tags\/muta%C3%A7%C3%A3o\/\">#mutation<\/a>&nbsp;in the survival motor neuron 1 gene, responsible for the production of the Survival Motor Neuron (SMN) protein which, in turn, is responsible for maintaining the health and normal function of motor neurons.<\/p>\n<p>\u27a1 In a patient with this rare disease, mutation of SMN1 genes leads to decreased production of SMN protein, leading to loss of&nbsp;<a class=\"xil3i\" tabindex=\"0\" href=\"https:\/\/www.instagram.com\/explore\/tags\/neur%C3%B4nios\/\">#neurons<\/a>&nbsp;motors in the spinal cord and, consequently, preventing the muscles from receiving adequate signals from the brain.<\/p>\n<p>I hope I was clear in my explanation.\ud83d\ude0a<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>J\u00e1 se questionou sobre o que est\u00e1 por tr\u00e1s da causa da Atrofia Muscular Espinhal (AME)? \ud83e\udd14Esse entendimento foi essencial para proporcionar o desenvolvimento de terapias eficientes, e acho importante compartilhar essa quest\u00e3o com voc\u00eas, seguidores.\ud83d\udc47 No paciente com&nbsp;#AME, h\u00e1 uma perda de c\u00e9lulas da medula espinhal \u2014 neur\u00f4nios motores \u2014 que leva \u00e0 fraqueza [&hellip;]<\/p>","protected":false},"author":1,"featured_media":426,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26,32,10],"tags":[27,45,46,47,43,44],"class_list":["post-425","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-atrofia-muscular-espinhal","category-doencas-neuromusculares","category-fisioterapia-pediatrica","tag-ame","tag-atrofia-muscular","tag-atrofia-muscular-espinhal","tag-doencas-degenerativas","tag-genetica","tag-teste-genetico-ame"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.1.1 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>AME \u00e9 uma doen\u00e7a gen\u00e9tica? - Dra. 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