{"id":363,"date":"2025-03-27T06:23:35","date_gmt":"2025-03-27T05:23:35","guid":{"rendered":"https:\/\/www.neuromuscularbcn.org\/?page_id=363"},"modified":"2025-04-29T13:53:19","modified_gmt":"2025-04-29T11:53:19","slug":"malaltia-de-pompe","status":"publish","type":"page","link":"https:\/\/www.neuromuscularbcn.org\/ca\/pacients\/malaltia-de-pompe\/","title":{"rendered":"Malaltia de Pompe"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1422.72px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column cnt_PagGen_Content_col\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\" data-scroll-devices=\"small-visibility,medium-visibility,large-visibility\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-tabs fusion-tabs-1 classic nav-is-justified cnt_pestanas horizontal-tabs icon-position-left mobile-mode-carousel mobile-sticky-tabs\" style=\"--awb-title-border-radius-top-left:0px;--awb-title-border-radius-top-right:0px;--awb-title-border-radius-bottom-right:0px;--awb-title-border-radius-bottom-left:0px;--awb-alignment:start;--awb-inactive-color:#ffffff;--awb-background-color:var(--awb-color1);--awb-border-color:#ffffff;--awb-active-border-color:var(--awb-color5);\"><div class=\"nav\"><ul class=\"nav-tabs nav-justified\" role=\"tablist\"><li class=\"active\" role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-dc048994286f32471ab\" aria-selected=\"true\" id=\"fusion-tab-informaci\u00d3general\" href=\"#tab-dc048994286f32471ab\"><h4 class=\"fusion-tab-heading\">INFORMACI\u00d3 GENERAL<\/h4><\/a><\/li><li role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-4f8dded2b389c372c8b\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-assajoscl\u00cdnics\" href=\"#tab-4f8dded2b389c372c8b\"><h4 class=\"fusion-tab-heading\">ASSAJOS CL\u00cdNICS<\/h4><\/a><\/li><li role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-66b67f9e67703a99701\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-enlla\u00c7osd\u2019inter\u00c8s\" href=\"#tab-66b67f9e67703a99701\"><h4 class=\"fusion-tab-heading\">ENLLA\u00c7OS D\u2019INTER\u00c8S<\/h4><\/a><\/li><\/ul><\/div><div class=\"tab-content\"><div class=\"tab-pane fade fusion-clearfix in active\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-informaci\u00d3general\" id=\"tab-dc048994286f32471ab\">\n<h6 id=\"tit_anclaje0\" class=\"anclaje_btn_cab\">INFORMACI\u00d3 GENERAL<\/h6>\n<p>La malaltia de Pompe \u00e9s una miopatia metab\u00f2lica corresponent al grup de les glucogenosi. \u00c9s una malaltia heredit\u00e0ria d\u2019her\u00e8ncia autos\u00f2mica recessiva produ\u00efda per mutacions en el gen GAA que codifica l\u2019enzim maltasa \u00e0cida. Els pacients amb aquest d\u00e8ficit no degraden el glucogen de forma correcta que s\u2019acumula a l\u2019interior de c\u00e8l\u00b7lules de tot el cos, incloent les fibres musculars. Hi ha dues formes cl\u00e0ssiques, la malaltia infantil i la d\u2019adults.<\/p>\n<p>La malaltia de Pompe infantil es produeix per una abs\u00e8ncia d\u2019activitat enzim\u00e0tica. Els pacients desenvolupen s\u00edmptomes als pocs mesos de vida consistents en hipotonia muscular, debilitat muscular proximal i axial, disf\u00e0gia, disfunci\u00f3 ventilat\u00f2ria i una miocardiopatia hipetr\u00f2fica. Sense tractament dels pacients moren abans del primer any de vida.<\/p>\n<p>La malaltia de Pompe de l\u2019adult \u00e9s m\u00e9s heterog\u00e8nia des del punt de vista cl\u00ednic. Els pacients poden presentar en forma de hipercekmia asimptom\u00e0tica, debilitat de cintures o debilitat de la musculatura respirat\u00f2ria. La malaltia \u00e9s lentament progressiva i s\u2019associa a un grau important de discapacitat.<\/p>\n<p>Hi ha un tractament aprovat per la malaltia de Pompe des de 2006. Es tracta del enzim recombinant hum\u00e0 que ha demostrat que millora o estabilitza la funci\u00f3 muscular dels pacients.<\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-assajoscl\u00cdnics\" id=\"tab-4f8dded2b389c372c8b\">\n<h6 id=\"tit_anclaje1\" class=\"anclaje_btn_cab\">ASSAJOS CL\u00cdNICS<\/h6>\n<p>En aquests moments est\u00e0 en marxa un assaig cl\u00ednic randomitzat doble cec internacional multic\u00e8ntric en el qual estem participant amb la versi\u00f3 modernitzada del enzim recombinant. Els criteris d\u2019inclusi\u00f3 de l\u2019estudi inclouen diagn\u00f2stic gen\u00e8tic confirmat, capacitat vital for\u00e7ada menor al 85% i no haver rebut tractament enzim\u00e0tic previ. Aquest \u00e9s un estudi actiu en qu\u00e8 estem reclutant pacients. Si vost\u00e8 est\u00e0 interessat en participar i voldria tenir m\u00e9s informaci\u00f3 contacti\u00a0<a href=\"https:\/\/www.neuromuscularbcn.org\/ca\/com-col%c2%b7laborar\/participar-en-un-estudi-clinic\/\" target=\"_blank\" rel=\"noopener\"><strong>\u00bfCom Participar?<\/strong>\u00a0<\/a><\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-enlla\u00c7osd\u2019inter\u00c8s\" id=\"tab-66b67f9e67703a99701\">\n<h6 id=\"tit_anclaje2\" class=\"anclaje_btn_cab\">ENLLA\u00c7OS D\u2019INTER\u00c8S<\/h6>\n<ul>\n<li>Associaci\u00f3 Espanyola de pacients amb glucogenosi:\u00a0<a href=\"http:\/\/www.glucogenosis.org\/\" target=\"_blank\" rel=\"noopener\">http:\/\/www.glucogenosis.org<\/a><\/li>\n<\/ul>\n<div id=\"gtx-trans\" style=\"position: absolute; left: -181px; top: -1.03125px;\">\n<div class=\"gtx-trans-icon\"><\/div>\n<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":332,"menu_order":3,"comment_status":"closed","ping_status":"closed","template":"100-width.php","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-363","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - 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