{"id":5293,"date":"2019-11-04T00:00:00","date_gmt":"2019-11-03T23:00:00","guid":{"rendered":"https:\/\/audiotek.es\/6735-2\/"},"modified":"2026-04-10T13:08:55","modified_gmt":"2026-04-10T11:08:55","slug":"sindrome-dusher-audicio","status":"publish","type":"post","link":"https:\/\/audiotek.es\/ca\/sindrome-usher-audicion\/","title":{"rendered":"Qu\u00e8 \u00e9s la s\u00edndrome d&#039;Usher i com afecta l&#039;audici\u00f3"},"content":{"rendered":"<p>&nbsp;<\/p>\n<p><span style=\"font-weight: 400;\">El s\u00edndrome d'Usher, tamb\u00e9 conegut com a s\u00edndrome de Hallgren, \u00e9s una afecci\u00f3 heredit\u00e0ria que causa una p\u00e8rdua auditiva greu des del naixement i una p\u00e8rdua visual significativa a causa d'un trastorn ocular conegut com a retinitis pigmentosa. Com que \u00e9s el trastorn m\u00e9s com\u00fa que afecta tant l'audici\u00f3 com la visi\u00f3, de vegades tamb\u00e9 pot afectar el sentit de l'equilibri.<\/span><\/p>\n<p>&nbsp;<\/p>\n<p><b>Tipus de S\u00edndrome d'Usher<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Per regla general, tots els casos d'aquesta patologia es poden englobar en els seg\u00fcents tres casos:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\"><strong>S\u00edndrome d'Usher tipus 1<\/strong>S\u00f3n persones que naixen amb una sordesa profunda i, per tant, no poden sentir res, ni tan sols amb l'ajuda d'audi\u00f2fons. Sovint tamb\u00e9 tenen problemes d'equilibri i poden experimentar retards per posar-se a seure o caminar. La retinitis pigmentosa sol desenvolupar-se entre els 8 i els 12 anys. A causa de la p\u00e8rdua auditiva severa, l'adquisici\u00f3 del llenguatge pot ser dif\u00edcil.<\/span><\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\"><strong>S\u00edndrome d'Usher tipus 2<\/strong>: Sovint es presenta una sordesa de moderada a severa tamb\u00e9 de naixement. En ser parcial no se sol diagnosticar fins als <strong>4 o 5 anys<\/strong>. En aquests casos, s\u00ed <strong>\u00e9s una bona alternativa l'\u00fas d'audi\u00f2fons<\/strong>. No hi ha problemes d'equilibri i la retinosi pigment\u00e0ria sol apar\u00e8ixer a l'adolesc\u00e8ncia.<\/span><\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\"><strong>S\u00edndrome d'Usher tipus 3<\/strong>: M\u00e9s habitual als pa\u00efsos n\u00f2rdics, les persones que pateixen el tipus 3 manifesten la sordesa progressiva i retinitis pigment\u00e0ria a edats m\u00e9s avan\u00e7ades, habitualment, a l'adolesc\u00e8ncia. Quan es diagnostica l'afectaci\u00f3 de la visi\u00f3 entre els 20 i els 30 anys, el pacient ja sol presentar una hipoac\u00fasia lleugera. Durant la seva vida adulta el pacient va patint una degeneraci\u00f3 de tots dos sentits.<\/span><\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p><img fetchpriority=\"high\" decoding=\"async\" class=\"aligncenter wp-image-6736 size-full\" alt=\"Ilustraci\u00f3n sobre el s\u00edndrome de Usher y su efecto en la audici\u00f3n\" src=\"https:\/\/audiotek.es\/wp-content\/uploads\/2019\/11\/Que\u0301-es-el-si\u0301ndrome-de-Usher-y-co\u0301mo-afecta-a-la-audicio\u0301n.jpg\" width=\"626\" height=\"417\"><\/p>\n<p>&nbsp;<\/p>\n<p><b>S\u00edndrome d'Usher i audici\u00f3<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Els s\u00edmptomes comuns d'aquesta condici\u00f3 s\u00f3n<strong> hipoac\u00fasia<\/strong> i el <strong>deteriorament de la visi\u00f3<\/strong>. Al nostre pa\u00eds, les formes m\u00e9s comunes s\u00f3n els tipus 1 i 2 del s\u00edndrome d'Usher. Per tant, pel que fa al s\u00edndrome d'Usher i a l'audici\u00f3, parlem d'una p\u00e8rdua auditiva que pot anar de moderada a severa, per\u00f2 que est\u00e0 present des del naixement.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Aquesta p\u00e8rdua d'audici\u00f3 \u00e9s provocada pel desenvolupament anormal de les c\u00e8l\u00b7lules ciliades, les c\u00e8l\u00b7lules receptores del so al nostre o\u00efda interna. Quan es produeix un desenvolupament anormal de les c\u00e8l\u00b7lules ciliades vestibulars, les c\u00e8l\u00b7lules que detecten la gravetat i el moviment del cap \u00e9s quan es presenten els problemes d'equilibri caracter\u00edstics de la S\u00edndrome d'Usher tipus 1.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00c9s precisament en els pacients d'aquest grup en els quals el trastorn afecta amb m\u00e9s duresa, en tots els sentits. Pel que fa a la hipoac\u00fasia, els audi\u00f2fons no es mostren com una opci\u00f3 eficient i l'\u00fanica via possible \u00e9s l'implant coclear amb la major promptitud possible.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Per als altres dos tipus del s\u00edndrome, <strong>els audi\u00f2fons continuen sent l'alternativa adequada<\/strong>.<\/span><\/p>\n<p>&nbsp;<\/p>\n<p><b>Tractament<\/b><\/p>\n<p><span style=\"font-weight: 400;\">M\u00e9s enll\u00e0 del maneig pal\u00b7liatiu dels problemes d'audici\u00f3, visi\u00f3 i equilibri, no hi ha una cura per a aquesta patologia. Estudis recents estan mostrant resultats prometedors a trav\u00e9s de dues vies possibles. La primera \u00e9s l'estudi del d\u00e8ficit de vitamina A que sembla afectar l'alteraci\u00f3 de la retina.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">El segon consisteix en una nova ter\u00e0pia g\u00e8nica, aplicada de forma local a l'o\u00efda i que hauria restaurat parcialment l'audici\u00f3 i la funci\u00f3 vestibular (de l'equilibri) en rosegadors afectats per la S\u00edndrome d'Usher. Els investigadors van administrar als ratolins la ter\u00e0pia g\u00e8nica mitjan\u00e7ant una \u00fanica injecci\u00f3, comprovant que restaurava els defectes morfol\u00f2gics existents a les c\u00e8l\u00b7lules ciliades. Per\u00f2 encara estem lluny de trobar un remei definitiu.<\/span><\/p>","protected":false},"excerpt":{"rendered":"<p>&nbsp; La S\u00edndrome d'Usher, tamb\u00e9 coneguda com a S\u00edndrome de Hallgren, \u00e9s una malaltia heredit\u00e0ria que provoca una p\u00e8rdua greu de l'audici\u00f3 des del naixement i un important deteriorament de la visi\u00f3 degut a una alteraci\u00f3 de l'ull denominada retinitis pigment\u00e0ria. Tractant-se del trastorn m\u00e9s freq\u00fcent que afecta alhora l'audici\u00f3... <a title=\"Qu\u00e8 \u00e9s la s\u00edndrome d&#039;Usher i com afecta l&#039;audici\u00f3\" class=\"read-more\" href=\"https:\/\/audiotek.es\/ca\/sindrome-usher-audicion\/\" aria-label=\"M\u00e9s informaci\u00f3 sobre Qu\u00e9 es el s\u00edndrome de Usher y c\u00f3mo afecta a la audici\u00f3n\">Llegeix m\u00e9s<\/a><\/p>","protected":false},"author":7,"featured_media":5295,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"pgc_sgb_lightbox_settings":"","footnotes":""},"categories":[21],"tags":[22,53,54],"class_list":["post-5293","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualidad","tag-audifonos","tag-sindrome-de-usher-y-audicion","tag-sindrome-usher-tipo-1"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>S\u00edndrome de Usher: c\u00f3mo afecta a la audici\u00f3n | Audiotek<\/title>\n<meta name=\"description\" content=\"El s\u00edndrome de Usher combina p\u00e9rdida auditiva y problemas de visi\u00f3n. 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