{"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":"syndrom","status":"publish","type":"page","link":"https:\/\/dupmecp2.eu\/pl\/syndrom\/","title":{"rendered":"Zesp\u00f3\u0142"},"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\">Zesp\u00f3\u0142<\/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>\"Zesp\u00f3\u0142 duplikacji genu MECP2 to powa\u017cna choroba, kt\u00f3ra wywraca \u017cycie ca\u0142ej rodziny do g\u00f3ry nogami. Mamy nadziej\u0119 przynie\u015b\u0107 pocieszenie i wsparcie rodzinom, kt\u00f3re stan\u0119\u0142y w obliczu tak trudnej diagnozy\".<\/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, wiceprzewodnicz\u0105ca<\/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>\"Zesp\u00f3\u0142 duplikacji genu MECP2 to powa\u017cna choroba, kt\u00f3ra wywraca \u017cycie ca\u0142ej rodziny do g\u00f3ry nogami. Mamy nadziej\u0119 przynie\u015b\u0107 pocieszenie i wsparcie rodzinom, kt\u00f3re stan\u0119\u0142y w obliczu tak trudnej diagnozy\".<\/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, wiceprzewodnicz\u0105ca<\/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=\"\/pl\/syndrom\/#decouverte\" class=\"elementor-item elementor-item-anchor\">Odkrycie zespo\u0142u<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2233\"><a href=\"\/pl\/syndrom\/#cause\" class=\"elementor-item elementor-item-anchor\">Przyczyna<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2234\"><a href=\"\/pl\/syndrom\/#transmission\" class=\"elementor-item elementor-item-anchor\">Transmisja<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2236\"><a href=\"\/pl\/syndrom\/#symptomes\" class=\"elementor-item elementor-item-anchor\">Objawy<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2237\"><a href=\"\/pl\/syndrom\/#diagnostic\" class=\"elementor-item elementor-item-anchor\">Diagnoza<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2239\"><a href=\"\/pl\/syndrom\/#prevalence\" class=\"elementor-item elementor-item-anchor\">Cz\u0119sto\u015b\u0107 wyst\u0119powania<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-4463\"><a href=\"\/pl\/syndrom\/#syndrome\" class=\"elementor-item elementor-item-anchor\">Syndrom w materiale wideo<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2240\"><a href=\"\/pl\/syndrom\/#autres\" class=\"elementor-item elementor-item-anchor\">Inne duplikacje genetyczne<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-3324\"><a href=\"\/pl\/syndrom\/#rett\" class=\"elementor-item elementor-item-anchor\">Zesp\u00f3\u0142 Retta<\/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=\"Prze\u0142\u0105cz menu\" 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=\"\/pl\/syndrom\/#decouverte\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Odkrycie zespo\u0142u<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2233\"><a href=\"\/pl\/syndrom\/#cause\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Przyczyna<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2234\"><a href=\"\/pl\/syndrom\/#transmission\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Transmisja<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2236\"><a href=\"\/pl\/syndrom\/#symptomes\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Objawy<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2237\"><a href=\"\/pl\/syndrom\/#diagnostic\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Diagnoza<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2239\"><a href=\"\/pl\/syndrom\/#prevalence\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Cz\u0119sto\u015b\u0107 wyst\u0119powania<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-4463\"><a href=\"\/pl\/syndrom\/#syndrome\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Syndrom w materiale wideo<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-2240\"><a href=\"\/pl\/syndrom\/#autres\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Inne duplikacje genetyczne<\/a><\/li>\n<li class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-3324\"><a href=\"\/pl\/syndrom\/#rett\" class=\"elementor-item elementor-item-anchor\" tabindex=\"-1\">Zesp\u00f3\u0142 Retta<\/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 )\">Odkrycie zespo\u0142u<\/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\">Przyczyna<\/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>Zesp\u00f3\u0142 duplikacji genu MECP2 jest rzadkim zaburzeniem genetycznym dotykaj\u0105cym g\u0142\u00f3wnie ch\u0142opc\u00f3w. Zesp\u00f3\u0142 ten jest spowodowany duplikacj\u0105 materia\u0142u genetycznego zlokalizowanego w regionie terminalnym (Xq28) chromosomu X, obejmuj\u0105cego gen MECP2 i inne s\u0105siednie geny (<em>IRAQ1<\/em>, <em>GDI1<\/em>, <em>FLNA<\/em>, <em>L1CAM<\/em>, <em>IDH3G<\/em>...). Rozmiar duplikacji i nasilenie objaw\u00f3w r\u00f3\u017cni\u0105 si\u0119 znacznie w zale\u017cno\u015bci od pacjenta, ale nie ma \u015bcis\u0142ych powi\u0105za\u0144 mi\u0119dzy tymi dwiema zmiennymi.<\/p><p>Bia\u0142ko kodowane przez gen MECP2, znane jako MeCP2 (methyl CpG binding protein 2), odgrywa kluczow\u0105 rol\u0119 w regulacji innych bia\u0142ek odpowiedzialnych za rozw\u00f3j i funkcjonowanie m\u00f3zgu.<\/p><p>Duplikacja genu prowadzi do nadprodukcji bia\u0142ka MeCP2, uniemo\u017cliwiaj\u0105c regulacj\u0119 innych bia\u0142ek. Klinicznie skutkuje to umiarkowan\u0105 lub ci\u0119\u017ck\u0105 niepe\u0142nosprawno\u015bci\u0105 intelektualn\u0105 (ID), op\u00f3\u017anionym rozwojem psychomotorycznym i bardzo s\u0142abym j\u0119zykiem lub jego brakiem.<\/p><p>Gdy mutacje prowadz\u0105 do produkcji niefunkcjonalnego bia\u0142ka MeCP2, pojawiaj\u0105 si\u0119 objawy podobne do objaw\u00f3w zespo\u0142u duplikacji. Jest to znane jako <a href=\"#rett\">Zesp\u00f3\u0142 Retta<\/a>.<\/p><p>W rezultacie ilo\u015b\u0107 bia\u0142ka MeCP2 obecnego w tkance musi by\u0107 precyzyjnie regulowana: ani zbyt niska, ani zbyt wysoka, aby zapewni\u0107 prawid\u0142owe funkcjonowanie sieci neuronalnej.<\/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\">Transmisja<\/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>Duplikacja genu MECP2 wynika z mutacji zlokalizowanej w regionie terminalnym chromosomu X. W ponad 90% przypadk\u00f3w duplikacja jest dziedziczona od bezobjawowej matki nosicielki. Nosicielstwo definiuje si\u0119 jako osob\u0119, kt\u00f3ra jest nosicielem wady genetycznej, ale nie przejawia jej klinicznie.\u00a0\u00a0<\/p><p>W przypadku ci\u0105\u017cy ryzyko urodzenia ch\u0142opca dotkni\u0119tego mutacj\u0105 wynosi 50%, a ryzyko urodzenia dziewczynki nosicielki mutacji wynosi 50%. Jest to bardzo rzadkie w przypadku <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 );\">dziewcz\u0105t rozwija objawow\u0105 posta\u0107 choroby.<\/span><\/p><p>M\u0119\u017cczy\u017ani (XY) maj\u0105 tylko jeden chromosom X. Duplikacja genu MECP2 powoduje powa\u017cne objawy we wszystkich przypadkach.<\/p><p>W przeciwie\u0144stwie do m\u0119\u017cczyzn, kobiety (XX) maj\u0105 2 chromosomy X. Duplikacja genu MECP2 bardzo rzadko ma jakiekolwiek konsekwencje dla kobiety, poniewa\u017c chromosom X ze zduplikowanym materia\u0142em jest inaktywowany, a poziom bia\u0142ka MeCP2 pozostaje prawid\u0142owy.<\/p><p>W rzadkich przypadkach mutacja ulega ekspresji u kobiet z powodu niekorzystnej inaktywacji zmutowanego chromosomu X lub z powodu przeniesienia mutacji na inny chromosom. W obu przypadkach objawy wahaj\u0105 si\u0119 od problem\u00f3w psychiatrycznych (depresja i l\u0119k) do ci\u0119\u017ckich objaw\u00f3w identycznych z tymi wyst\u0119puj\u0105cymi u dotkni\u0119tych chorob\u0105 m\u0119\u017cczyzn.<\/p><p>Duplikacja genu MECP2 mo\u017ce r\u00f3wnie\u017c wyst\u0105pi\u0107 podczas zap\u0142odnienia. Jest to znane jako <em>de novo<\/em> poniewa\u017c \u017caden z rodzic\u00f3w nie jest nosicielem mutacji genetycznej.<\/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\">Objawy<\/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>G\u0142\u00f3wne objawy wyst\u0119puj\u0105ce u pacjent\u00f3w z zespo\u0142em duplikacji genu MECP2 to :<\/p><ul><li><strong>Niepe\u0142nosprawno\u015b\u0107 intelektualna (ID)<\/strong><\/li><li><strong>Op\u00f3\u017aniony rozw\u00f3j\u00a0<\/strong><\/li><li><strong>Upo\u015bledzona koordynacja ruchowa (ataksja)<\/strong><\/li><li><strong>Brak j\u0119zyka<\/strong><\/li><li><strong>Brak napi\u0119cia mi\u0119\u015bniowego (hipotonia) i post\u0119puj\u0105ca spastyczno\u015b\u0107\u00a0<\/strong><\/li><li><strong>Padaczka\u00a0<\/strong><\/li><li><strong>Nawracaj\u0105ce infekcje\u00a0<\/strong><\/li><li><strong>Zmniejszona wra\u017cliwo\u015b\u0107 na b\u00f3l<\/strong><\/li><li><strong>Problemy \u017co\u0142\u0105dkowo-jelitowe (refluks lub zaparcia)<\/strong><\/li><li><strong>Problemy stomatologiczne\u00a0<\/strong><\/li><li><strong>Problemy okulistyczne i upo\u015bledzenie s\u0142uchu<\/strong><\/li><li><strong>Cechy autystyczne<\/strong><\/li><li><strong>Wczesna zachorowalno\u015b\u0107<\/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\">Znanych jest niewiele przypadk\u00f3w zespo\u0142u duplikacji genu MECP2. Dziecko z tym zespo\u0142em mo\u017ce nie mie\u0107 wszystkich wymienionych objaw\u00f3w. Ponadto objawy i ich nasilenie mog\u0105 zmienia\u0107 si\u0119 wraz z wiekiem.<\/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\">Diagnoza<\/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\">Jest to trudne do ustalenia, poniewa\u017c formy kliniczne s\u0105 niejednorodne, a pracownicy s\u0142u\u017cby zdrowia, z wyj\u0105tkiem specjalist\u00f3w, nie s\u0105 zbyt dobrze zaznajomieni z ich rozpoznawaniem.<\/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\">Objawy w pierwszym roku \u017cycia<\/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>Diagnoz\u0119 mo\u017cna postawi\u0107 na podstawie obrazu klinicznego u dziecka p\u0142ci m\u0119skiej, u kt\u00f3rego wyst\u0119puje kombinacja nast\u0119puj\u0105cych objaw\u00f3w:\u00a0<\/p><ul><li aria-level=\"1\"><strong>Hipotonia<\/strong><\/li><li aria-level=\"1\"><strong>Op\u00f3\u017aniony rozw\u00f3j<\/strong><\/li><li aria-level=\"1\"><strong>Choroba refluksowa prze\u0142yku (GERD)<\/strong><\/li><li aria-level=\"1\"><strong>Ci\u0119\u017ckie zaparcia<\/strong><\/li><li aria-level=\"1\"><strong>Nawracaj\u0105ce infekcje dr\u00f3g oddechowych<\/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\">Objawy u dzieci i doros\u0142ych<\/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>Diagnoz\u0119 nale\u017cy rozwa\u017cy\u0107 w przypadku obrazu z wieloma upo\u015bledzeniami, z ci\u0119\u017ckim ID i bardzo s\u0142abym lub nieobecnym j\u0119zykiem zwi\u0105zanym z kombinacj\u0105 objaw\u00f3w, takich jak :<\/p><ul><li aria-level=\"1\"><strong>Powtarzaj\u0105ce si\u0119 ruchy<\/strong><\/li><li aria-level=\"1\"><strong>Padaczka<\/strong><\/li><li aria-level=\"1\"><strong>Post\u0119puj\u0105ca spastyczno\u015b\u0107, szczeg\u00f3lnie w ko\u0144czynach dolnych<\/strong><\/li><li aria-level=\"1\"><strong>Przewlek\u0142e zaparcia<\/strong><\/li><li aria-level=\"1\"><strong>Powtarzaj\u0105ce si\u0119 infekcje dr\u00f3g oddechowych<\/strong><\/li><li aria-level=\"1\"><strong>Cechy morfologiczne twarzy<\/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\">Cz\u0119sto\u015b\u0107 wyst\u0119powania&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>Poniewa\u017c zesp\u00f3\u0142 duplikacji genu MECP2 jest tak cz\u0119sto niedodiagnozowany ze wzgl\u0119du na zmienno\u015b\u0107 objaw\u00f3w, dok\u0142adna cz\u0119sto\u015b\u0107 jego wyst\u0119powania jest obecnie nieznana. Obecnie szacuje si\u0119 j\u0105 na 1\/150 000 urodze\u0144 p\u0142ci m\u0119skiej.<\/p><p>Obecnie liczba przypadk\u00f3w na ca\u0142ym \u015bwiecie jest nieznana. Mo\u017cliwe jest jednak, \u017ce zesp\u00f3\u0142 duplikacji genu MECP2 mo\u017ce odpowiada\u0107 za 1 do 2% niewyja\u015bnionej niepe\u0142nosprawno\u015bci intelektualnej i\/lub autyzmu.\u00a0<\/p><p>Dlatego tak wa\u017cne jest rejestrowanie wszystkich zdiagnozowanych przypadk\u00f3w w istniej\u0105cych rejestrach.<\/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\/pl\/co-robimy\/informowac-o-badaniach\/#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\">Do rejestr\u00f3w<\/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\">Syndrom w materiale wideo<\/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\">Rodziny dotkni\u0119te duplikacj\u0105 genu MECP2 prezentuj\u0105 zesp\u00f3\u0142 na wideo. Filmy mo\u017cna obejrze\u0107 tutaj.<\/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=\"Suwak\">\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=\"Wideo 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\" data-no-translation=\"\" data-trp-gettext=\"\">Spielen<\/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\" data-no-translation=\"\" data-trp-gettext=\"\">Spielen<\/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=\"Wideo 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\" data-no-translation=\"\" data-trp-gettext=\"\">Spielen<\/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=\"project401\" 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\" data-no-translation=\"\" data-trp-gettext=\"\">Spielen<\/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=\"Voriger\" data-no-translation-aria-label=\"\">\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=\"N\u00e4chster\" data-no-translation-aria-label=\"\">\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\">Inne duplikacje genetyczne<\/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>Istnieje wiele chor\u00f3b genetycznych spowodowanych duplikacj\u0105 gen\u00f3w.&nbsp;<\/p>\n<p>Choroby te maj\u0105 r\u00f3\u017cne objawy, ale zasad\u0119 leczenia jednej duplikacji mo\u017cna zastosowa\u0107 do innego zespo\u0142u wynikaj\u0105cego z duplikacji genu.<\/p>\n<p>Post\u0119p naukowy w jednej duplikacji mo\u017ce zatem prowadzi\u0107 do post\u0119pu w innych.<\/p>\n<p><strong><em>Pe\u0142ny artyku\u0142 na temat innych duplikacji genetycznych jest w przygotowaniu. Po wi\u0119cej szczeg\u00f3\u0142\u00f3w zapraszamy p\u00f3\u017aniej...<\/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\">Zesp\u00f3\u0142 Retta<\/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>W przeciwie\u0144stwie do zespo\u0142u duplikacji genu MECP2, mutacje w genie MECP2 mog\u0105 wyst\u0105pi\u0107 podczas zap\u0142odnienia i mog\u0105 prowadzi\u0107 do produkcji niefunkcjonalnego lub mniej aktywnego bia\u0142ka MeCP2.<\/p><p>Mutacje inaktywuj\u0105ce gen MECP2 lub zmniejszaj\u0105ce aktywno\u015b\u0107 bia\u0142ka MeCP2 s\u0105 odpowiedzialne za zesp\u00f3\u0142 Retta, kt\u00f3rego objawy s\u0105 podobne do zespo\u0142u duplikacji genu MECP2.<\/p><p>Zesp\u00f3\u0142 Retta zosta\u0142 po raz pierwszy opisany w 1966 roku przez Andreasa Retta. Wyst\u0119puje g\u0142\u00f3wnie u dziewczynek, z cz\u0119sto\u015bci\u0105 od 1 na 10 000 do 15 000 urodze\u0144. Zdiagnozowano jednak kilka rzadkich przypadk\u00f3w zespo\u0142u Retta u ch\u0142opc\u00f3w.<\/p><p>Zesp\u00f3\u0142 ten jest stosunkowo dobrze zbadany, a wniosek o dopuszczenie do obrotu leku (Trofinetide, Acadia) jest obecnie rozpatrywany w Stanach Zjednoczonych.<\/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\">Jeste\u015bmy tu dla Ciebie<\/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>Skontaktuj si\u0119 z nami, aby dowiedzie\u0107 si\u0119 wi\u0119cej o zespole i projektach badawczych.<\/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\/pl\/kontakt-2\/\">\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\">Skontaktuj si\u0119 z nami<\/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\/pl\/syndrom\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\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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