{"id":70,"date":"2021-01-29T11:54:50","date_gmt":"2021-01-29T11:54:50","guid":{"rendered":"https:\/\/ring20researchsupport.co.uk\/?page_id=70"},"modified":"2021-05-19T18:02:56","modified_gmt":"2021-05-19T17:02:56","slug":"r20-syndrome","status":"publish","type":"page","link":"https:\/\/ring20researchsupport.co.uk\/nb\/r20-syndrome\/","title":{"rendered":"r(20) Syndrom"},"content":{"rendered":"
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Hva er ringkromosom 20 syndrom<\/h1>\t\t\t\t<\/div>\n\t\t\t\t
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r(20)-syndrom er en sv\u00e6rt sjelden tilstand der en av de to kopiene av kromosom 20 har dannet en ring i stedet for den typiske line\u00e6re kromosomstrukturen. Hvorfor tuppene av kromosomet g\u00e5r sammen for \u00e5 danne ringen er ikke forst\u00e5tt, og hvordan dannelsen av ringen p\u00e5virker funksjonen til gener pakket p\u00e5 kromosom 20 er heller ikke forst\u00e5tt. Konsekvensen av ringdannelsen er en vanskelig \u00e5 kontrollere epilepsi<\/strong> , typisk med utbrudd i tidlig barndom og assosiert med intellektuell funksjonshemming<\/strong> og atferdsproblemer<\/strong> som kan v\u00e6re progressive. Noen ganger kan atferdsproblemene oppst\u00e5 f\u00f8r epilepsien. Anfall reagerer vanligvis ikke p\u00e5 behandling, og det er forel\u00f8pig ingen anbefalt behandling for r(20)-syndrom.<\/p>

Vi vet ikke hvor vanlig r(20)-syndrom er, selv om det oppfattes \u00e5 v\u00e6re underdiagnostisert eller feildiagnostisert hos noen mennesker med epilepsi.<\/p>

Det er to forskjellige former for r(20)-syndrom: ikke-mosaikk<\/strong> hvor ringen finnes i hver celle i kroppen (den alvorligste formen av sykdommen) og mosaikk<\/strong>, hvor ringen sees i bare en prosentandel av cellene (dette er den vanligste formen for sykdommen). <\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t

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Kilde: MedlinePlus, National Library of Medicine<\/figcaption>\n\t\t\t\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\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
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Syndromet har disse hovedtrekkene:\n\n<\/h2>\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
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F\u00f8rste tegn<\/h3>\t\t\t\t<\/div>\n\t\t\t\t
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Vanligvis begynner anfall tidlig i barndommen, vanligvis rundt det tidspunktet barna begynner p\u00e5 skolen, men symptomer kan ogs\u00e5 oppst\u00e5 tidligere i barndommen, i ungdoms\u00e5rene eller tidlig i voksenlivet.<\/p>\t\t\t\t\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

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Anfall<\/h3>\t\t\t\t<\/div>\n\t\t\t\t
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Det er vanligvis et plutselig utbrudd av anfall uten noen tydelig trigger. Ved debut kommer anfall ofte fra s\u00f8vn. Disse kan oppst\u00e5 flere ganger om natten og kan forveksles med nattskrekk.<\/p>\t\t\t\t\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

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Kognisjon<\/h3>\t\t\t\t<\/div>\n\t\t\t\t
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L\u00e6revansker kan v\u00e6re alt fra sv\u00e6rt milde til alvorlige. Vanskeligheter kan v\u00e6re tydelige f\u00f8r anfall utvikles, men de kan bli tydeligere etter utbruddet av epilepsi.<\/p>\t\t\t\t\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

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Oppf\u00f8rsel<\/h3>\t\t\t\t<\/div>\n\t\t\t\t
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Mange opplever atferdsendring
f\u00f8r eller rundt anfallsutbruddet, manifestert ved d\u00e5rlig oppmerksomhet og konsentrasjon, impulsivitet og andre atferdsproblemer<\/p>\t\t\t\t\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

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Generell helse<\/h3>\t\t\t\t<\/div>\n\t\t\t\t
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I motsetning til mange kromosomforstyrrelser har personer med r(20) et normalt utseende og har ikke intellektuell funksjonshemming f\u00f8r epilepsiutbruddet. De er vanligvis friske ellers.<\/p>\t\t\t\t\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

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\n\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tDu kan lese historiene og erfaringene til mennesker med r(20) ved \u00e5 klikke her<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\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
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Anfall<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Anfall er hovedsymptomet ved r(20)-syndrom, men hvilke typer anfall opplever individer?<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Behandlinger og terapier<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Finn ut hvilke behandlinger og terapier som er tilgjengelige for personer med r(20)-syndrom<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Epilepsi og (r20)<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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r(20)-syndrom er en sjelden form for kompleks epilepsi. Finn ut mer om epilepsi og r(20) her...<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Pasientreise<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Hva kan du forvente n\u00e5r du har diagnosen r(20)-syndrom? Vi har kartlagt en typisk bane som viser hva dine behov kan v\u00e6re over tid.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Leter du etter mer informasjon?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Last ned v\u00e5rt pdf-informasjonsark p\u00e5 Ring20 eller klikk her for m\u00e5ter \u00e5 kontakte oss p\u00e5<\/a>.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

\n\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tLast ned pdf-informasjonsbladet<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\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<\/div>\n\t\t\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<\/div>","protected":false},"excerpt":{"rendered":"

What is Ring Chromosome 20 Syndrome r(20) syndrome is a very rare condition in which one of the two copies of chromosome 20 has formed a ring rather than the typical linear chromosome structure. Why the tips of the chromosome join together to form the ring is not understood and how the formation of the […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"disabled","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"class_list":["post-70","page","type-page","status-publish","hentry"],"yoast_head":"\nr(20) Syndrome - Ring20 Research and Support UK CIO<\/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:\/\/ring20researchsupport.co.uk\/nb\/r20-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"nb_NO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"r(20) Syndrome - Ring20 Research and Support UK CIO\" \/>\n<meta property=\"og:description\" content=\"What is Ring Chromosome 20 Syndrome r(20) syndrome is a very rare condition in which one of the two copies of chromosome 20 has formed a ring rather than the typical linear chromosome structure. 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