{"id":3602,"date":"2022-07-21T17:40:39","date_gmt":"2022-07-21T17:40:39","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?page_id=3602"},"modified":"2023-07-10T14:12:32","modified_gmt":"2023-07-10T14:12:32","slug":"la-sindrome-2","status":"publish","type":"page","link":"https:\/\/dupmecp2.eu\/it\/la-sindrome-2\/","title":{"rendered":"La sindrome"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"3602\" class=\"elementor elementor-3602\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-3eab2428 elementor-section-full_width elementor-section-height-min-height elementor-section-items-stretch elementor-section-content-middle elementor-section-height-default\" data-id=\"3eab2428\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-6fabad1c\" data-id=\"6fabad1c\" 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-3250f006 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-inherit elementor-widget elementor-widget-spacer\" data-id=\"3250f006\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_direction&quot;:&quot;negative&quot;,&quot;motion_fx_translateX_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;0.5&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;],&quot;motion_fx_translateX_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:0,&quot;end&quot;:100}}}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-22d9ca25 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-inherit elementor-widget elementor-widget-spacer\" data-id=\"22d9ca25\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;0.8&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;],&quot;motion_fx_translateX_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:0,&quot;end&quot;:100}}}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-8906d8f elementor-section-content-middle elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"8906d8f\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-5c28bfb5\" data-id=\"5c28bfb5\" 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-50d06bfa elementor-invisible elementor-widget elementor-widget-heading\" data-id=\"50d06bfa\" data-element_type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;fadeIn&quot;,&quot;_animation_mobile&quot;:&quot;none&quot;}\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">La sindrome<\/h1>\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\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-6b15f1c elementor-section-full_width elementor-section-height-min-height elementor-section-items-stretch elementor-section-content-middle elementor-hidden-desktop elementor-hidden-tablet elementor-section-height-default\" data-id=\"6b15f1c\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-43c1a80\" data-id=\"43c1a80\" 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-e41c3d9 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"e41c3d9\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_direction&quot;:&quot;negative&quot;,&quot;motion_fx_translateY_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;2&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateY_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4c306fd elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"4c306fd\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;2&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateY_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-c22940d elementor-section-content-middle elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"c22940d\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-e13c20d\" data-id=\"e13c20d\" 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-db2695f elementor-widget elementor-widget-text-editor\" data-id=\"db2695f\" 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<h5>\"La sindrome da duplicazione del gene MECP2 \u00e8 una malattia grave che sconvolge la vita di tutta la famiglia. Speriamo di portare conforto e sostegno alle famiglie che devono affrontare una diagnosi cos\u00ec difficile\".<\/h5>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5085896 elementor-widget elementor-widget-text-editor\" data-id=\"5085896\" 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>Caroline Covini, Vicepresidente<\/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\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-090d1a0 elementor-section-full_width elementor-section-height-min-height elementor-section-items-stretch elementor-section-content-middle elementor-hidden-mobile elementor-section-height-default\" data-id=\"090d1a0\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-a87dfb7\" data-id=\"a87dfb7\" 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-60f4bd8 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"60f4bd8\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_direction&quot;:&quot;negative&quot;,&quot;motion_fx_translateY_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;2&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateY_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-a0bcf0d elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"a0bcf0d\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateY_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;2&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateY_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-831d3a8 elementor-section-content-middle elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"831d3a8\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-5728d0e\" data-id=\"5728d0e\" 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-b7be9ec elementor-widget elementor-widget-text-editor\" data-id=\"b7be9ec\" 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>\"La sindrome da duplicazione del gene MECP2 \u00e8 una malattia grave che sconvolge la vita di tutta la famiglia. Speriamo di portare conforto e sostegno alle famiglie che devono affrontare una diagnosi cos\u00ec difficile\".<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c226aa4 elementor-widget elementor-widget-text-editor\" data-id=\"c226aa4\" 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>Caroline Covini, Vicepresidente<\/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\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-f640ac4 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"f640ac4\" 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-b223977\" data-id=\"b223977\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\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<section class=\"elementor-section elementor-top-section elementor-element elementor-element-65b0025 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"65b0025\" 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-33 elementor-top-column elementor-element elementor-element-a2b1ff3\" data-id=\"a2b1ff3\" data-element_type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-bfb1b0e elementor-hidden-mobile elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"bfb1b0e\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;sticky&quot;:&quot;top&quot;,&quot;sticky_offset&quot;:230,&quot;sticky_parent&quot;:&quot;yes&quot;,&quot;sticky_on&quot;:[&quot;desktop&quot;,&quot;tablet&quot;,&quot;mobile&quot;],&quot;sticky_effects_offset&quot;:0,&quot;sticky_anchor_link_offset&quot;:0}\">\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-inner-column elementor-element elementor-element-16e66e1\" data-id=\"16e66e1\" data-element_type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\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-7b9ba3a elementor-nav-menu__align-start elementor-hidden-mobile elementor-nav-menu--dropdown-tablet elementor-nav-menu__text-align-aside elementor-nav-menu--toggle elementor-nav-menu--burger elementor-widget elementor-widget-nav-menu\" data-id=\"7b9ba3a\" data-element_type=\"widget\" data-settings=\"{&quot;layout&quot;:&quot;vertical&quot;,&quot;submenu_icon&quot;:{&quot;value&quot;:&quot;&lt;svg class=\\&quot;e-font-icon-svg e-fas-plus\\&quot; viewBox=\\&quot;0 0 448 512\\&quot; xmlns=\\&quot;http:\\\/\\\/www.w3.org\\\/2000\\\/svg\\&quot;&gt;&lt;path d=\\&quot;M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\\&quot;&gt;&lt;\\\/path&gt;&lt;\\\/svg&gt;&quot;,&quot;library&quot;:&quot;fa-solid&quot;},&quot;toggle&quot;:&quot;burger&quot;}\" data-widget_type=\"nav-menu.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t<nav aria-label=\"Menu\" class=\"elementor-nav-menu--main elementor-nav-menu__container elementor-nav-menu--layout-vertical e--pointer-text e--animation-none\">\n\t\t\t\t<ul id=\"menu-1-7b9ba3a\" class=\"elementor-nav-menu sm-vertical\"><li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-3611\"><a href=\"\/it\/la-sindrome-2\/#decouverte\" class=\"elementor-item elementor-item-anchor\">La scoperta della sindrome<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2233\"><a href=\"\/it\/la-sindrome-2\/#cause\" class=\"elementor-item elementor-item-anchor\">La causa<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2234\"><a href=\"\/it\/la-sindrome-2\/#transmission\" class=\"elementor-item elementor-item-anchor\">Trasmissione<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2236\"><a href=\"\/it\/la-sindrome-2\/#symptomes\" class=\"elementor-item elementor-item-anchor\">I sintomi<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2237\"><a href=\"\/it\/la-sindrome-2\/#diagnostic\" class=\"elementor-item elementor-item-anchor\">Diagnosi<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2239\"><a href=\"\/it\/la-sindrome-2\/#prevalence\" class=\"elementor-item elementor-item-anchor\">Prevalenza<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-4463\"><a href=\"\/it\/la-sindrome-2\/#syndrome\" class=\"elementor-item elementor-item-anchor\">La sindrome in video<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2240\"><a href=\"\/it\/la-sindrome-2\/#autres\" class=\"elementor-item elementor-item-anchor\">Altre duplicazioni genetiche<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-3324\"><a href=\"\/it\/la-sindrome-2\/#rett\" class=\"elementor-item elementor-item-anchor\">Sindrome di Rett<\/a><\/li>\n<\/ul>\t\t\t<\/nav>\n\t\t\t\t\t<div class=\"elementor-menu-toggle\" role=\"button\" tabindex=\"0\" aria-label=\"Menu di commutazione\" aria-expanded=\"false\">\n\t\t\t<svg aria-hidden=\"true\" role=\"presentation\" class=\"elementor-menu-toggle__icon--open e-font-icon-svg e-eicon-menu-bar\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M104 333H896C929 333 958 304 958 271S929 208 896 208H104C71 208 42 237 42 271S71 333 104 333ZM104 583H896C929 583 958 554 958 521S929 458 896 458H104C71 458 42 487 42 521S71 583 104 583ZM104 833H896C929 833 958 804 958 771S929 708 896 708H104C71 708 42 737 42 771S71 833 104 833Z\"><\/path><\/svg><svg aria-hidden=\"true\" role=\"presentation\" class=\"elementor-menu-toggle__icon--close e-font-icon-svg e-eicon-close\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M742 167L500 408 258 167C246 154 233 150 217 150 196 150 179 158 167 167 154 179 150 196 150 212 150 229 154 242 171 254L408 500 167 742C138 771 138 800 167 829 196 858 225 858 254 829L496 587 738 829C750 842 767 846 783 846 800 846 817 842 829 829 842 817 846 804 846 783 846 767 842 750 829 737L588 500 833 258C863 229 863 200 833 171 804 137 775 137 742 167Z\"><\/path><\/svg>\t\t<\/div>\n\t\t\t\t\t<nav class=\"elementor-nav-menu--dropdown elementor-nav-menu__container\" aria-hidden=\"true\">\n\t\t\t\t<ul id=\"menu-2-7b9ba3a\" class=\"elementor-nav-menu sm-vertical\"><li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-3611\"><a href=\"\/it\/la-sindrome-2\/#decouverte\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">La scoperta della sindrome<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2233\"><a href=\"\/it\/la-sindrome-2\/#cause\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">La causa<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2234\"><a href=\"\/it\/la-sindrome-2\/#transmission\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Trasmissione<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2236\"><a href=\"\/it\/la-sindrome-2\/#symptomes\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">I sintomi<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2237\"><a href=\"\/it\/la-sindrome-2\/#diagnostic\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Diagnosi<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2239\"><a href=\"\/it\/la-sindrome-2\/#prevalence\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Prevalenza<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-4463\"><a href=\"\/it\/la-sindrome-2\/#syndrome\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">La sindrome in video<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2240\"><a href=\"\/it\/la-sindrome-2\/#autres\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Altre duplicazioni genetiche<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-3324\"><a href=\"\/it\/la-sindrome-2\/#rett\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Sindrome di Rett<\/a><\/li>\n<\/ul>\t\t\t<\/nav>\n\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\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element elementor-element-80cae04\" data-id=\"80cae04\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-b04d40a elementor-hidden-tablet elementor-hidden-mobile elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"b04d40a\" data-element_type=\"section\" data-settings=\"{&quot;sticky&quot;:&quot;top&quot;,&quot;sticky_offset&quot;:210,&quot;sticky_parent&quot;:&quot;yes&quot;,&quot;sticky_on&quot;:[&quot;desktop&quot;,&quot;tablet&quot;,&quot;mobile&quot;],&quot;sticky_effects_offset&quot;:0,&quot;sticky_anchor_link_offset&quot;:0}\">\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-inner-column elementor-element elementor-element-01e6b18\" data-id=\"01e6b18\" 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-e9cabf7 elementor-widget-mobile__width-auto elementor-view-default elementor-widget elementor-widget-icon\" data-id=\"e9cabf7\" data-element_type=\"widget\" data-settings=\"{&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_devices&quot;:[&quot;desktop&quot;]}\" data-widget_type=\"icon.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-icon-wrapper\">\n\t\t\t<div class=\"elementor-icon\">\n\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-square\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M400 32H48C21.5 32 0 53.5 0 80v352c0 26.5 21.5 48 48 48h352c26.5 0 48-21.5 48-48V80c0-26.5-21.5-48-48-48z\"><\/path><\/svg>\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c30ac34 elementor-widget-mobile__width-auto elementor-view-default elementor-widget elementor-widget-icon\" data-id=\"c30ac34\" data-element_type=\"widget\" data-widget_type=\"icon.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-icon-wrapper\">\n\t\t\t<div class=\"elementor-icon\">\n\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-square\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M400 32H48C21.5 32 0 53.5 0 80v352c0 26.5 21.5 48 48 48h352c26.5 0 48-21.5 48-48V80c0-26.5-21.5-48-48-48z\"><\/path><\/svg>\t\t\t<\/div>\n\t\t<\/div>\n\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\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element elementor-element-330cc66\" data-id=\"330cc66\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-e1fbbaf elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"e1fbbaf\" 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-inner-column elementor-element elementor-element-770f091\" data-id=\"770f091\" 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-e6616db elementor-widget elementor-widget-menu-anchor\" data-id=\"e6616db\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"decouverte\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-abe5c07 elementor-widget elementor-widget-heading\" data-id=\"abe5c07\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\"><span style=\"color: var( --e-global-color-primary );font-size: var( --e-global-typography-primary-font-size );font-weight: var( --e-global-typography-primary-font-weight );text-align: center;background-color: var( --e-global-color-c15569b )\">La scoperta della sindrome<\/span><\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-6859440 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"6859440\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\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<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-a6ad902 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"a6ad902\" 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-inner-column elementor-element elementor-element-395aace\" data-id=\"395aace\" 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-867ef2c e-transform elementor-widget elementor-widget-menu-anchor\" data-id=\"867ef2c\" data-element_type=\"widget\" id=\"anchor\" data-settings=\"{&quot;_transform_translateX_effect&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_translateX_effect_tablet&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_translateX_effect_mobile&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_translateY_effect&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_translateY_effect_tablet&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_translateY_effect_mobile&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]}}\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"cause\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-40899d5 elementor-widget elementor-widget-heading\" data-id=\"40899d5\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">La causa<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-9b3ffcd elementor-widget elementor-widget-text-editor\" data-id=\"9b3ffcd\" 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>La sindrome da duplicazione del gene MECP2 \u00e8 una malattia genetica rara che colpisce principalmente i ragazzi. La sindrome \u00e8 causata da una duplicazione del materiale genetico situato nella regione terminale (Xq28) del cromosoma X, che coinvolge il gene MECP2 e altri geni vicini (<em>IRAQ1<\/em>, <em>GDI1<\/em>, <em>FLNA<\/em>, <em>L1CAM<\/em>, <em>IDH3G<\/em>...). La dimensione della duplicazione e la gravit\u00e0 dei sintomi variano notevolmente da un paziente all'altro, ma non esistono legami certi tra queste due variabili.<\/p><p>La proteina codificata dal gene MECP2, nota come MeCP2 (methyl CpG binding protein 2), svolge un ruolo centrale nella regolazione di altre proteine responsabili dello sviluppo e della funzione del cervello.<\/p><p>La duplicazione del gene porta a una sovrapproduzione della proteina MeCP2, impedendo la regolazione di altre proteine. I sintomi clinici comprendono una disabilit\u00e0 intellettiva (ID) da moderata a grave, un ritardo nello sviluppo psicomotorio e un linguaggio molto scarso o assente.<\/p><p>Quando le mutazioni portano alla produzione di una proteina MeCP2 non funzionale, compaiono sintomi simili a quelli della sindrome da duplicazione. Questo fenomeno \u00e8 noto come <a href=\"#rett\">Sindrome di Rett<\/a>.<\/p><p>Di conseguenza, la quantit\u00e0 di proteina MeCP2 presente nel tessuto deve essere regolata con precisione: n\u00e9 troppo bassa n\u00e9 troppo alta, per garantire il corretto funzionamento della rete neuronale.<\/p><p>\u00a0<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-21850ff elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"21850ff\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\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<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-66077e2 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"66077e2\" 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-inner-column elementor-element elementor-element-ed99a8a\" data-id=\"ed99a8a\" 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-0ea8406 elementor-widget elementor-widget-menu-anchor\" data-id=\"0ea8406\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"transmission\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4b082aa elementor-widget elementor-widget-heading\" data-id=\"4b082aa\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Trasmissione<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ed0f57f elementor-widget elementor-widget-text-editor\" data-id=\"ed0f57f\" 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>La duplicazione del gene MECP2 deriva da una mutazione localizzata sulla regione terminale del cromosoma X. In oltre 90% dei casi, la duplicazione \u00e8 ereditata da una madre portatrice asintomatica. Si definisce portatore una persona che \u00e8 portatrice del difetto genetico, ma che non lo manifesta clinicamente.\u00a0\u00a0<\/p><p>In una gravidanza, ha un rischio di 50% di dare alla luce un bambino affetto e un rischio di 50% di dare alla luce una bambina portatrice della mutazione. \u00c8 molto raro che <span style=\"color: var( --e-global-color-text ); font-family: var( --e-global-typography-text-font-family ), Sans-serif; font-style: var( --e-global-typography-text-font-style ); font-weight: var( --e-global-typography-text-font-weight ); text-transform: var( --e-global-typography-text-text-transform ); background-color: var( --e-global-color-c15569b );\">le ragazze sviluppano una forma sintomatica della malattia.<\/span><\/p><p>Gli uomini (XY) hanno un solo cromosoma X. La duplicazione del gene MECP2 causa sintomi gravi in tutti i casi.<\/p><p>A differenza degli uomini, le donne (XX) hanno 2 cromosomi X. Una duplicazione del gene MECP2 molto raramente ha conseguenze per una donna, poich\u00e9 il cromosoma X con materiale duplicato viene inattivato e i livelli di proteina MeCP2 rimangono normali.<\/p><p>In rari casi, la mutazione si esprime nelle femmine a causa di un'inattivazione sfavorevole del cromosoma X mutato, o perch\u00e9 la mutazione \u00e8 trasposta su un altro cromosoma. In entrambi i casi, i sintomi vanno da problemi psichiatrici (depressione e ansia) a sintomi gravi identici a quelli riscontrati negli uomini affetti.<\/p><p>La duplicazione del gene MECP2 pu\u00f2 verificarsi anche durante la fecondazione. Questo fenomeno \u00e8 noto come <em>de novo<\/em> perch\u00e9 nessuno dei due genitori \u00e8 portatore della mutazione genetica.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5700a13 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"5700a13\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\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<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-c8f34c8 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"c8f34c8\" 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-inner-column elementor-element elementor-element-4f7c1de\" data-id=\"4f7c1de\" 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-8dbc19f elementor-widget elementor-widget-menu-anchor\" data-id=\"8dbc19f\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"symptomes\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-18dbc90 elementor-widget elementor-widget-heading\" data-id=\"18dbc90\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">I sintomi<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7a3a6d7 elementor-widget elementor-widget-text-editor\" data-id=\"7a3a6d7\" 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>I principali sintomi riscontrati nei pazienti con sindrome da duplicazione del gene MECP2 sono :<\/p><ul><li><strong>Disabilit\u00e0 intellettiva (ID)<\/strong><\/li><li><strong>Sviluppo ritardato\u00a0<\/strong><\/li><li><strong>Imprecisione della coordinazione motoria (atassia)<\/strong><\/li><li><strong>Mancanza di linguaggio<\/strong><\/li><li><strong>Mancanza di tono muscolare (ipotonia) e progressiva spasticit\u00e0\u00a0<\/strong><\/li><li><strong>Epilessia\u00a0<\/strong><\/li><li><strong>Infezioni ricorrenti\u00a0<\/strong><\/li><li><strong>Riduzione della sensibilit\u00e0 al dolore<\/strong><\/li><li><strong>Problemi gastrointestinali (reflusso o costipazione)<\/strong><\/li><li><strong>Problemi dentali\u00a0<\/strong><\/li><li><strong>Problemi oftalmologici e disturbi dell'udito<\/strong><\/li><li><strong>Tratti autistici<\/strong><\/li><li><strong>Morbilit\u00e0 precoce<\/strong><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e6f4477 elementor-widget elementor-widget-text-editor\" data-id=\"e6f4477\" 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 class=\"MsoNormal\">Sono noti pochi casi di sindrome da duplicazione del gene MECP2. Un bambino con questa sindrome pu\u00f2 non presentare tutti i sintomi elencati. Inoltre, i sintomi e la loro intensit\u00e0 possono cambiare con l'et\u00e0.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-40028e4 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"40028e4\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\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<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-06af0b0 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"06af0b0\" 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-inner-column elementor-element elementor-element-6f610f4\" data-id=\"6f610f4\" 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-3611040 elementor-widget elementor-widget-menu-anchor\" data-id=\"3611040\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"diagnostic\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5cb7021 elementor-widget elementor-widget-heading\" data-id=\"5cb7021\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Diagnosi<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4c5df0a elementor-widget elementor-widget-text-editor\" data-id=\"4c5df0a\" 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 class=\"MsoNormal\"><span lang=\"FR\">\u00c8 difficile da stabilire perch\u00e9 le forme cliniche sono eterogenee e gli operatori sanitari, a parte gli specialisti, non hanno molta dimestichezza nel riconoscerle.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-1fc9f0d elementor-widget elementor-widget-heading\" data-id=\"1fc9f0d\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Segni nel primo anno di vita<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4ac98da elementor-widget elementor-widget-text-editor\" data-id=\"4ac98da\" 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>La diagnosi pu\u00f2 essere fatta sulla base della presentazione clinica, in un bambino maschio che presenta una combinazione dei seguenti segni:\u00a0<\/p><ul><li aria-level=\"1\"><strong>Ipotonia<\/strong><\/li><li aria-level=\"1\"><strong>Sviluppo ritardato<\/strong><\/li><li aria-level=\"1\"><strong>Malattia da reflusso gastro-esofageo (GERD)<\/strong><\/li><li aria-level=\"1\"><strong>Stitichezza grave<\/strong><\/li><li aria-level=\"1\"><strong>Infezioni respiratorie ricorrenti<\/strong><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c219134 elementor-widget elementor-widget-heading\" data-id=\"c219134\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Segni nei bambini e negli adulti<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ba51912 elementor-widget elementor-widget-text-editor\" data-id=\"ba51912\" 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>La diagnosi deve essere presa in considerazione in presenza di un quadro multihandicap con ID grave e linguaggio molto scarso o assente associato a una combinazione di segni quali :<\/p><ul><li aria-level=\"1\"><strong>Movimenti ripetitivi<\/strong><\/li><li aria-level=\"1\"><strong>Epilessia<\/strong><\/li><li aria-level=\"1\"><strong>Spasticit\u00e0 progressiva, soprattutto agli arti inferiori.<\/strong><\/li><li aria-level=\"1\"><strong>Stitichezza cronica<\/strong><\/li><li aria-level=\"1\"><strong>Ripetute infezioni respiratorie<\/strong><\/li><li aria-level=\"1\"><strong>Caratteristiche morfologiche del volto<\/strong><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-746f63a elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"746f63a\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\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<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-dba5f04 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"dba5f04\" 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-inner-column elementor-element elementor-element-0146797\" data-id=\"0146797\" 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-e12141b elementor-widget elementor-widget-menu-anchor\" data-id=\"e12141b\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"prevalence\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-df9020f elementor-widget elementor-widget-heading\" data-id=\"df9020f\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Prevalenza&nbsp;<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-6941f7c elementor-widget elementor-widget-text-editor\" data-id=\"6941f7c\" 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>Poich\u00e9 la sindrome da duplicazione del gene MECP2 \u00e8 ampiamente sotto-diagnosticata a causa della variabilit\u00e0 dei sintomi, l'esatta prevalenza della sindrome \u00e8 attualmente sconosciuta. Attualmente \u00e8 stimata in 1\/150.000 nascite di maschi.<\/p><p>Attualmente, il numero di casi in tutto il mondo \u00e8 sconosciuto. Tuttavia, \u00e8 possibile che la sindrome da duplicazione del gene MECP2 sia responsabile di 1-2% di disabilit\u00e0 intellettive e\/o autismo inspiegabili.\u00a0<\/p><p>Per questo motivo \u00e8 fondamentale registrare tutti i casi diagnosticati attraverso i registri esistenti.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-78e0cd1 elementor-align-left elementor-tablet-align-center elementor-widget elementor-widget-button\" data-id=\"78e0cd1\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm elementor-animation-float\" href=\"https:\/\/dupmecp2.eu\/it\/cosa-facciamo-2\/informare-la-ricerca\/#registres\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Ai registri<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-1a991f5 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"1a991f5\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\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<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-61ef200 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"61ef200\" 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-inner-column elementor-element elementor-element-b5ac4c4\" data-id=\"b5ac4c4\" 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-7b434cd elementor-widget elementor-widget-menu-anchor\" data-id=\"7b434cd\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"syndrome\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7ea7935 elementor-widget elementor-widget-heading\" data-id=\"7ea7935\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">La sindrome in video<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-51f7333 elementor-widget elementor-widget-text-editor\" data-id=\"51f7333\" 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 class=\"mbr-section-title display-2\">Le famiglie colpite dalla duplicazione del gene MECP2 presentano la sindrome in video. Guardate i video qui.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-22993a1 elementor-skin-coverflow elementor-arrows-yes elementor-pagination-type-bullets elementor-pagination-position-outside elementor-widget elementor-widget-media-carousel\" data-id=\"22993a1\" data-element_type=\"widget\" data-settings=\"{&quot;skin&quot;:&quot;coverflow&quot;,&quot;slides_per_view&quot;:&quot;1&quot;,&quot;show_arrows&quot;:&quot;yes&quot;,&quot;pagination&quot;:&quot;bullets&quot;,&quot;speed&quot;:500,&quot;autoplay&quot;:&quot;yes&quot;,&quot;autoplay_speed&quot;:5000,&quot;loop&quot;:&quot;yes&quot;,&quot;pause_on_hover&quot;:&quot;yes&quot;,&quot;pause_on_interaction&quot;:&quot;yes&quot;,&quot;space_between&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:10,&quot;sizes&quot;:[]},&quot;space_between_tablet&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:10,&quot;sizes&quot;:[]},&quot;space_between_mobile&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:10,&quot;sizes&quot;:[]}}\" data-widget_type=\"media-carousel.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-swiper\">\n\t\t\t\t\t<div class=\"elementor-main-swiper swiper\" role=\"region\" aria-roledescription=\"carousel\" aria-label=\"Diapositive\">\n\t\t\t\t<div class=\"swiper-wrapper\">\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"swiper-slide\" role=\"group\" aria-roledescription=\"slide\">\n\t\t\t\t\t\t\t<a href=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/07\/Video-401-e1659100814756.jpg\" data-elementor-open-lightbox=\"yes\" data-elementor-lightbox-slideshow=\"22993a1\" data-elementor-lightbox-title=\"Video 401\" data-e-action-hash=\"#elementor-action%3Aaction%3Dlightbox%26settings%3DeyJpZCI6NDE2MSwidXJsIjoiaHR0cHM6XC9cL2R1cG1lY3AyLmV1XC93cC1jb250ZW50XC91cGxvYWRzXC8yMDIyXC8wN1wvVmlkZW8tNDAxLWUxNjU5MTAwODE0NzU2LmpwZyIsInNsaWRlc2hvdyI6IjIyOTkzYTEifQ%3D%3D\" data-elementor-lightbox-video=\"https:\/\/www.youtube.com\/embed\/nmIziKaRkAY?feature=oembed&amp;autoplay=1&amp;rel=0&amp;controls=0\">\t\t<div class=\"elementor-carousel-image lazyload\" role=\"img\" aria-label=\"Video 401\" style=\"background-image:inherit\" data-bg-image=\"url(&#039;https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/07\/Video-401-e1659100814756.jpg&#039;)\">\n\n\t\t\t\n\t\t\t\t\t\t\t<div class=\"elementor-custom-embed-play\">\n\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-play\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M838 162C746 71 633 25 500 25 371 25 258 71 163 162 71 254 25 367 25 500 25 633 71 746 163 837 254 929 367 979 500 979 633 979 746 933 838 837 929 746 975 633 975 500 975 367 929 254 838 162M808 192C892 279 933 379 933 500 933 621 892 725 808 808 725 892 621 938 500 938 379 938 279 896 196 808 113 725 67 621 67 500 67 379 108 279 196 192 279 108 383 62 500 62 621 62 721 108 808 192M438 392V642L642 517 438 392Z\"><\/path><\/svg>\t\t\t\t\t<span class=\"elementor-screen-only\">Leggi<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/a>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"swiper-slide\" role=\"group\" aria-roledescription=\"slide\">\n\t\t\t\t\t\t\t<a href=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Melker.jpg\" data-elementor-open-lightbox=\"yes\" data-elementor-lightbox-slideshow=\"22993a1\" data-elementor-lightbox-title=\"Melker\" data-e-action-hash=\"#elementor-action%3Aaction%3Dlightbox%26settings%3DeyJpZCI6OTk3MiwidXJsIjoiaHR0cHM6XC9cL2R1cG1lY3AyLmV1XC93cC1jb250ZW50XC91cGxvYWRzXC8yMDIyXC8xMVwvTWVsa2VyLmpwZyIsInNsaWRlc2hvdyI6IjIyOTkzYTEifQ%3D%3D\" data-elementor-lightbox-video=\"https:\/\/www.youtube.com\/embed\/lUr5jduQ45g?feature=oembed&amp;autoplay=1&amp;rel=0&amp;controls=0\">\t\t<div class=\"elementor-carousel-image lazyload\" role=\"img\" aria-label=\"Melker\" style=\"background-image:inherit\" data-bg-image=\"url(&#039;https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Melker.jpg&#039;)\">\n\n\t\t\t\n\t\t\t\t\t\t\t<div class=\"elementor-custom-embed-play\">\n\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-play\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M838 162C746 71 633 25 500 25 371 25 258 71 163 162 71 254 25 367 25 500 25 633 71 746 163 837 254 929 367 979 500 979 633 979 746 933 838 837 929 746 975 633 975 500 975 367 929 254 838 162M808 192C892 279 933 379 933 500 933 621 892 725 808 808 725 892 621 938 500 938 379 938 279 896 196 808 113 725 67 621 67 500 67 379 108 279 196 192 279 108 383 62 500 62 621 62 721 108 808 192M438 392V642L642 517 438 392Z\"><\/path><\/svg>\t\t\t\t\t<span class=\"elementor-screen-only\">Leggi<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/a>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"swiper-slide\" role=\"group\" aria-roledescription=\"slide\">\n\t\t\t\t\t\t\t<a href=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/07\/Video-Aleix-e1659101544941.jpg\" data-elementor-open-lightbox=\"yes\" data-elementor-lightbox-slideshow=\"22993a1\" data-elementor-lightbox-title=\"Video Aleix\" data-e-action-hash=\"#elementor-action%3Aaction%3Dlightbox%26settings%3DeyJpZCI6NDE3MiwidXJsIjoiaHR0cHM6XC9cL2R1cG1lY3AyLmV1XC93cC1jb250ZW50XC91cGxvYWRzXC8yMDIyXC8wN1wvVmlkZW8tQWxlaXgtZTE2NTkxMDE1NDQ5NDEuanBnIiwic2xpZGVzaG93IjoiMjI5OTNhMSJ9\" data-elementor-lightbox-video=\"https:\/\/www.youtube.com\/embed\/9z0hG-8LOYE?feature=oembed&amp;autoplay=1&amp;rel=0&amp;controls=0\">\t\t<div class=\"elementor-carousel-image lazyload\" role=\"img\" aria-label=\"Video Aleix\" style=\"background-image:inherit\" data-bg-image=\"url(&#039;https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/07\/Video-Aleix-e1659101544941.jpg&#039;)\">\n\n\t\t\t\n\t\t\t\t\t\t\t<div class=\"elementor-custom-embed-play\">\n\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-play\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M838 162C746 71 633 25 500 25 371 25 258 71 163 162 71 254 25 367 25 500 25 633 71 746 163 837 254 929 367 979 500 979 633 979 746 933 838 837 929 746 975 633 975 500 975 367 929 254 838 162M808 192C892 279 933 379 933 500 933 621 892 725 808 808 725 892 621 938 500 938 379 938 279 896 196 808 113 725 67 621 67 500 67 379 108 279 196 192 279 108 383 62 500 62 621 62 721 108 808 192M438 392V642L642 517 438 392Z\"><\/path><\/svg>\t\t\t\t\t<span class=\"elementor-screen-only\">Leggi<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/a>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"swiper-slide\" role=\"group\" aria-roledescription=\"slide\">\n\t\t\t\t\t\t\t<a href=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/project401.jpg\" data-elementor-open-lightbox=\"yes\" data-elementor-lightbox-slideshow=\"22993a1\" data-elementor-lightbox-title=\"project401\" data-e-action-hash=\"#elementor-action%3Aaction%3Dlightbox%26settings%3DeyJpZCI6OTk4OCwidXJsIjoiaHR0cHM6XC9cL2R1cG1lY3AyLmV1XC93cC1jb250ZW50XC91cGxvYWRzXC8yMDIyXC8xMVwvcHJvamVjdDQwMS5qcGciLCJzbGlkZXNob3ciOiIyMjk5M2ExIn0%3D\" data-elementor-lightbox-video=\"https:\/\/www.youtube.com\/embed\/QJGe9G8TvVs?feature=oembed&amp;autoplay=1&amp;rel=0&amp;controls=0\">\t\t<div class=\"elementor-carousel-image lazyload\" role=\"img\" aria-label=\"progetto401\" style=\"background-image:inherit\" data-bg-image=\"url(&#039;https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/project401.jpg&#039;)\">\n\n\t\t\t\n\t\t\t\t\t\t\t<div class=\"elementor-custom-embed-play\">\n\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-play\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M838 162C746 71 633 25 500 25 371 25 258 71 163 162 71 254 25 367 25 500 25 633 71 746 163 837 254 929 367 979 500 979 633 979 746 933 838 837 929 746 975 633 975 500 975 367 929 254 838 162M808 192C892 279 933 379 933 500 933 621 892 725 808 808 725 892 621 938 500 938 379 938 279 896 196 808 113 725 67 621 67 500 67 379 108 279 196 192 279 108 383 62 500 62 621 62 721 108 808 192M438 392V642L642 517 438 392Z\"><\/path><\/svg>\t\t\t\t\t<span class=\"elementor-screen-only\">Leggi<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/a>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"elementor-swiper-button elementor-swiper-button-prev\" role=\"button\" tabindex=\"0\" aria-label=\"Precedente\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-chevron-left\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M646 125C629 125 613 133 604 142L308 442C296 454 292 471 292 487 292 504 296 521 308 533L604 854C617 867 629 875 646 875 663 875 679 871 692 858 704 846 713 829 713 812 713 796 708 779 692 767L438 487 692 225C700 217 708 204 708 187 708 171 704 154 692 142 675 129 663 125 646 125Z\"><\/path><\/svg>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<div class=\"elementor-swiper-button elementor-swiper-button-next\" role=\"button\" tabindex=\"0\" aria-label=\"Avanti\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-eicon-chevron-right\" viewbox=\"0 0 1000 1000\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M696 533C708 521 713 504 713 487 713 471 708 454 696 446L400 146C388 133 375 125 354 125 338 125 325 129 313 142 300 154 292 171 292 187 292 204 296 221 308 233L563 492 304 771C292 783 288 800 288 817 288 833 296 850 308 863 321 871 338 875 354 875 371 875 388 867 400 854L696 533Z\"><\/path><\/svg>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"swiper-pagination\"><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-79e9238 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"79e9238\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\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<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-c5a37ac elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"c5a37ac\" 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-inner-column elementor-element elementor-element-1d6a8bd\" data-id=\"1d6a8bd\" 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-a3e70b5 elementor-widget elementor-widget-menu-anchor\" data-id=\"a3e70b5\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"autres\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5060bc7 elementor-widget elementor-widget-heading\" data-id=\"5060bc7\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Altre duplicazioni genetiche<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-28f3f7a elementor-widget elementor-widget-text-editor\" data-id=\"28f3f7a\" 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>Esiste un gran numero di malattie genetiche causate da duplicazioni geniche.&nbsp;<\/p>\n<p>Queste malattie hanno sintomi diversi, ma il principio del trattamento di una duplicazione potrebbe essere applicato a un'altra sindrome derivante dalla duplicazione di un gene.<\/p>\n<p>I progressi scientifici in una duplicazione possono quindi portare a progressi in altre.<\/p>\n<p><strong><em>\u00c8 in preparazione un articolo completo su altre duplicazioni genetiche. Per maggiori dettagli, tornate pi\u00f9 tardi...<\/em><\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e760a9b elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"e760a9b\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\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<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-a30ff44 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"a30ff44\" 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-inner-column elementor-element elementor-element-16d8d75\" data-id=\"16d8d75\" 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-e0c756a elementor-widget elementor-widget-menu-anchor\" data-id=\"e0c756a\" data-element_type=\"widget\" id=\"anchor\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"rett\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-cce4037 elementor-widget elementor-widget-heading\" data-id=\"cce4037\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Sindrome di Rett<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-b3071d7 elementor-widget elementor-widget-text-editor\" data-id=\"b3071d7\" 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>A differenza della sindrome da duplicazione del gene MECP2, le mutazioni nel gene MECP2 possono verificarsi durante la fecondazione e possono portare alla produzione di una proteina MeCP2 non funzionale o meno attiva.<\/p><p>Le mutazioni che inattivano il gene MECP2 o riducono l'attivit\u00e0 della proteina MeCP2 sono responsabili della sindrome di Rett, i cui sintomi sono simili alla sindrome da duplicazione del gene MECP2.<\/p><p>La sindrome di Rett \u00e8 stata descritta per la prima volta nel 1966 da Andreas Rett. Si manifesta principalmente nelle bambine, con un'incidenza di 1 su 10.000-15.000 nascite. Tuttavia, alcuni rari casi di sindrome di Rett sono stati diagnosticati nei ragazzi.<\/p><p>La sindrome \u00e8 relativamente ben studiata e negli Stati Uniti \u00e8 in corso la richiesta di autorizzazione all'immissione in commercio di un farmaco (Trofinetide, Acadia).<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7bef612 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"7bef612\" data-element_type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\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\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-c289430 elementor-section-full_width elementor-section-height-min-height elementor-section-items-stretch elementor-section-content-middle elementor-section-height-default\" data-id=\"c289430\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-1857d0a\" data-id=\"1857d0a\" 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-d86a940 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"d86a940\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;0.5&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateX_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f3eb5a6 elementor-widget__width-initial elementor-absolute elementor-widget-tablet__width-initial elementor-widget-mobile__width-initial elementor-widget elementor-widget-spacer\" data-id=\"f3eb5a6\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;,&quot;motion_fx_motion_fx_scrolling&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_effect&quot;:&quot;yes&quot;,&quot;motion_fx_translateX_direction&quot;:&quot;negative&quot;,&quot;motion_fx_translateX_speed&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;0.5&quot;,&quot;sizes&quot;:[]},&quot;motion_fx_translateX_affectedRange&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:{&quot;start&quot;:&quot;0&quot;,&quot;end&quot;:&quot;50&quot;}},&quot;motion_fx_devices&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-8fcf034 elementor-section-content-middle elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"8fcf034\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-00ed26f\" data-id=\"00ed26f\" 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-688217c elementor-widget elementor-widget-heading\" data-id=\"688217c\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Siamo qui per voi<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f33c353 elementor-widget elementor-widget-text-editor\" data-id=\"f33c353\" 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>Contattateci per saperne di pi\u00f9 sulla sindrome e sui progetti di ricerca.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e753aaf elementor-align-center elementor-widget elementor-widget-button\" data-id=\"e753aaf\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"https:\/\/dupmecp2.eu\/it\/contatto\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Contattateci<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\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\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>Le syndrome \u00ab\u00a0Le syndrome de duplication du g\u00e8ne MECP2 est une maladie grave qui bouleverse la vie de toute la famille. Nous esp\u00e9rons apporter r\u00e9confort et soutien aux familles confront\u00e9es [&hellip;]<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":1,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"footnotes":""},"class_list":["post-3602","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Le syndrome - DupMECP2<\/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:\/\/dupmecp2.eu\/it\/la-sindrome-2\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Le syndrome - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Le syndrome \u00ab\u00a0Le syndrome de duplication du g\u00e8ne MECP2 est une maladie grave qui bouleverse la vie de toute la famille. 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