{"id":2385,"date":"2024-04-03T01:49:27","date_gmt":"2024-04-03T02:49:27","guid":{"rendered":"https:\/\/aaadmj.pt\/?page_id=2385"},"modified":"2024-04-27T00:05:47","modified_gmt":"2024-04-27T00:05:47","slug":"testes-geneticos-para-dmj","status":"publish","type":"page","link":"https:\/\/aaadmj.com\/en\/testes-geneticos-para-dmj\/","title":{"rendered":"Genetic Testing for DMJ"},"content":{"rendered":"<div data-elementor-type=\"wp-post\" data-elementor-id=\"2385\" class=\"elementor elementor-2385\" data-elementor-post-type=\"page\">\n\t\t\t\t<div class=\"elementor-element elementor-element-4cfaa708 e-flex e-con-boxed e-con e-parent\" data-id=\"4cfaa708\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-7d8b78b1 elementor-widget elementor-widget-heading\" data-id=\"7d8b78b1\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.21.0 - 08-05-2024 *\/\n.elementor-heading-title{padding:0;margin:0;line-height:1}.elementor-widget-heading .elementor-heading-title[class*=elementor-size-]>a{color:inherit;font-size:inherit;line-height:inherit}.elementor-widget-heading .elementor-heading-title.elementor-size-small{font-size:15px}.elementor-widget-heading .elementor-heading-title.elementor-size-medium{font-size:19px}.elementor-widget-heading .elementor-heading-title.elementor-size-large{font-size:29px}.elementor-widget-heading .elementor-heading-title.elementor-size-xl{font-size:39px}.elementor-widget-heading .elementor-heading-title.elementor-size-xxl{font-size:59px}<\/style><h2 class=\"elementor-heading-title elementor-size-default\">Genetic Testing for DMJ<\/h2>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-774512ad elementor-icon-list--layout-inline elementor-laptop-align-left elementor-tablet_extra-align-center elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"774512ad\" data-element_type=\"widget\" data-widget_type=\"icon-list.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<link rel=\"stylesheet\" href=\"https:\/\/aaadmj.com\/wp-content\/uploads\/elementor\/css\/custom-widget-icon-list.min.css?ver=1715656163\">\t\t<ul class=\"elementor-icon-list-items elementor-inline-items\">\n\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item elementor-inline-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/aaadmj.com\/en\">\n\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Home<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item elementor-inline-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/aaadmj.com\/en\/testes-geneticos-para-dmj\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-angle-right\" viewbox=\"0 0 256 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M224.3 273l-136 136c-9.4 9.4-24.6 9.4-33.9 0l-22.6-22.6c-9.4-9.4-9.4-24.6 0-33.9l96.4-96.4-96.4-96.4c-9.4-9.4-9.4-24.6 0-33.9L54.3 103c9.4-9.4 24.6-9.4 33.9 0l136 136c9.5 9.4 9.5 24.6.1 34z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Genetic Testing for DMJ<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ul>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-2b0f5ca1 e-flex e-con-boxed e-con e-parent\" data-id=\"2b0f5ca1\" data-element_type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-ebab7a5 elementor-widget elementor-widget-text-editor\" data-id=\"ebab7a5\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.21.0 - 08-05-2024 *\/\n.elementor-widget-text-editor.elementor-drop-cap-view-stacked .elementor-drop-cap{background-color:#69727d;color:#fff}.elementor-widget-text-editor.elementor-drop-cap-view-framed .elementor-drop-cap{color:#69727d;border:3px solid;background-color:transparent}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap{margin-top:8px}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap-letter{width:1em;height:1em}.elementor-widget-text-editor .elementor-drop-cap{float:left;text-align:center;line-height:1;font-size:50px}.elementor-widget-text-editor .elementor-drop-cap-letter{display:inline-block}<\/style>\t\t\t\t<p>DMJ is hereditary in nature and the transmission of the disease follows what geneticists call a \u2018dominant pattern\u2019. This means that patients usually carry one copy of the disorder and that this copy is sufficient, if passed on to a child, for the disease to manifest. The identification of chromosome 14 as the chromosome where the gene responsible for DMJ is found (called ATXN3), as well as knowledge of the gene itself, discoveries that took place between 1993 and 1994, have made it possible to offer families with DMJ various types of genetic testing:<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-25ecaffd e-flex e-con-boxed elementor-invisible e-con e-parent\" data-id=\"25ecaffd\" data-element_type=\"container\" id=\"conceito\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;animation&quot;:&quot;fadeInUp&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-7675475e e-con-full e-flex e-con e-child\" data-id=\"7675475e\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-74bb9a4d elementor-widget elementor-widget-heading\" data-id=\"74bb9a4d\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Diagnostic test:<\/h3>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-2de25560 e-con-full e-flex e-con e-child\" data-id=\"2de25560\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-fb3b151 elementor-invisible elementor-widget elementor-widget-text-editor\" data-id=\"fb3b151\" data-element_type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeInUp&quot;}\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\tTest carried out on a person with alterations compatible with DMJ and usually with a family history of the disease, to confirm the diagnosis of DMJ, made by a Neurologist.\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-06e058d e-flex e-con-boxed elementor-invisible e-con e-parent\" data-id=\"06e058d\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;animation&quot;:&quot;fadeInUp&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-642a3cb e-con-full e-flex e-con e-child\" data-id=\"642a3cb\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-b04c99a elementor-widget elementor-widget-heading\" data-id=\"b04c99a\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Predictive Testing:<\/h3>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-d855ce1 e-con-full e-flex e-con e-child\" data-id=\"d855ce1\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-6530761 elementor-invisible elementor-widget elementor-widget-text-editor\" data-id=\"6530761\" data-element_type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeInUp&quot;}\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\tA test that involves a system of consultations (neurology, medical genetics, psychology) in which a person \u2018at risk\u2019 for DMJ (i.e. who has a direct relative, father or mother, with the disease) will have their molecular analysis done to find out whether or not they have the alteration (mutation).\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-ad2eeb9 e-flex e-con-boxed elementor-invisible e-con e-parent\" data-id=\"ad2eeb9\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;animation&quot;:&quot;fadeInUp&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-e94aea7 e-con-full e-flex e-con e-child\" data-id=\"e94aea7\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-ba5e71f elementor-widget elementor-widget-heading\" data-id=\"ba5e71f\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Prenatal testing:<\/h3>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-5542a20 e-con-full e-flex e-con e-child\" data-id=\"5542a20\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-eea8bd9 elementor-invisible elementor-widget elementor-widget-text-editor\" data-id=\"eea8bd9\" data-element_type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeInUp&quot;}\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\tTest carried out during pregnancy, allowing couples in which one of the people carries the mutation to find out if the foetus also has the alteration.\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-5a46351 e-flex e-con-boxed elementor-invisible e-con e-parent\" data-id=\"5a46351\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;animation&quot;:&quot;fadeInUp&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-33f8a6b e-con-full e-flex e-con e-child\" data-id=\"33f8a6b\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-b892f9a elementor-widget elementor-widget-heading\" data-id=\"b892f9a\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Pre-implantation genetic testing:<\/h3>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-5b5a11a e-con-full e-flex e-con e-child\" data-id=\"5b5a11a\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-efbeb21 elementor-invisible elementor-widget elementor-widget-text-editor\" data-id=\"efbeb21\" data-element_type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeInUp&quot;}\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<p>A test that detects a genetic alteration in the embryo before it is implanted in the uterus, so that the baby is born without the alteration. This test is carried out in the context of in vitro fertilisation\/embryo biopsy.<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-4068b880 e-flex e-con-boxed e-con e-parent\" data-id=\"4068b880\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;shape_divider_top&quot;:&quot;pyramids&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-shape elementor-shape-top\" data-negative=\"false\">\n\t\t\t<svg xmlns=\"http:\/\/www.w3.org\/2000\/svg\" viewbox=\"0 0 1000 100\" preserveaspectratio=\"none\">\n\t<path class=\"elementor-shape-fill\" d=\"M761.9,44.1L643.1,27.2L333.8,98L0,3.8V0l1000,0v3.9\"\/>\n<\/svg>\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>A DMJ tem uma natureza heredit\u00e1ria e a transmiss\u00e3o da doen\u00e7a segue o que os geneticistas chamam um \u201cpadr\u00e3o dominante\u201d. Tal significa que os doentes s\u00e3o habitualmente portadores de uma c\u00f3pia da altera\u00e7\u00e3o, e que essa c\u00f3pia \u00e9 suficiente, se for passada a um filho, para que a doen\u00e7a se manifeste.<\/p>","protected":false},"author":1,"featured_media":2861,"parent":0,"menu_order":7,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-2385","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Testes Gen\u00e9ticos para DMJ - AAADMJ - Associa\u00e7\u00e3o Atl\u00e2ntica de Apoio aos Doentes de Machado-Joseph<\/title>\n<meta name=\"description\" content=\"A DMJ tem uma natureza heredit\u00e1ria e a transmiss\u00e3o da doen\u00e7a segue o que os geneticistas chamam um \u201cpadr\u00e3o dominante\u201d.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/aaadmj.com\/en\/testes-geneticos-para-dmj\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Testes Gen\u00e9ticos para DMJ - 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