{"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\/it\/r20-syndrome\/","title":{"rendered":"sindrome di r (20)"},"content":{"rendered":"
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Che cos'\u00e8 la sindrome del cromosoma ad anello 20<\/h1>\t\t\t\t<\/div>\n\t\t\t\t
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La sindrome r (20) \u00e8 una condizione molto rara in cui una delle due copie del cromosoma 20 ha formato un anello anzich\u00e9 la tipica struttura cromosomica lineare. Non si capisce perch\u00e9 le punte del cromosoma si uniscono per formare l'anello e non si comprende nemmeno come la formazione dell'anello influenzi la funzione dei geni impaccati sul cromosoma 20. La conseguenza della formazione dell'anello rende difficile controllare l\u2019epilessia che tipicamente esordisce nella prima infanzia ed \u00e8 associata a disabilit\u00e0 cognitiva e problemi di comportamento che possono essere progressivi.<\/p>

Non sappiamo quanto sia comune la sindrome r (20), sebbene sia percepita come sottodiagnosticata o diagnosticata erroneamente in alcune persone con epilessia.<\/p>

Esistono due forme distinte di sindrome r (20): non mosaico<\/strong> dove l'anello si trova in ogni cellula del corpo (la forma pi\u00f9 grave della malattia) e mosaico<\/strong>, dove l'anello \u00e8 visibile solo in una percentuale delle cellule (questa \u00e8 la forma pi\u00f9 comune della malattia). <\/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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Fonte: MedlinePlus, Biblioteca nazionale di medicina<\/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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La sindrome ha queste caratteristiche chiave:\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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Primi segni<\/h3>\t\t\t\t<\/div>\n\t\t\t\t
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Di solito le convulsioni iniziano nella prima infanzia, in genere intorno al momento in cui i bambini iniziano la scuola, tuttavia i sintomi possono presentarsi anche prima nell'infanzia, nell'adolescenza o nella prima et\u00e0 adulta.<\/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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Convulsioni<\/h3>\t\t\t\t<\/div>\n\t\t\t\t
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Di solito c'\u00e8 un inizio improvviso di convulsioni senza alcun chiaro fattore scatenante. All'inizio le convulsioni sono spesso dovute al sonno. Questi possono verificarsi pi\u00f9 volte durante la notte e possono essere scambiati per terrori notturni.<\/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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Cognizione<\/h3>\t\t\t\t<\/div>\n\t\t\t\t
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Possono presentarsi difficolt\u00e0 di apprendimento che vanno da molto lievi a gravi. Le difficolt\u00e0 possono essere evidenti prima che si sviluppino le crisi, ma possono diventare pi\u00f9 evidenti dopo l'inizio dell'epilessia.<\/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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Comportamento<\/h3>\t\t\t\t<\/div>\n\t\t\t\t
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Molte persone sperimentano un cambiamento nel comportamento
prima o intorno all'esordio della crisi, manifestato da scarsa attenzione e concentrazione, impulsivit\u00e0 e altri problemi comportamentali<\/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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Salute generale<\/h3>\t\t\t\t<\/div>\n\t\t\t\t
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A differenza di molti disturbi cromosomici, le persone con r (20) hanno un aspetto normale e non hanno disabilit\u00e0 intellettiva prima dell'inizio dell'epilessia. Di solito sono altrimenti sani.<\/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\tPuoi leggere le storie e le esperienze delle persone con r (20) facendo clic qui<\/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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Convulsioni<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Le convulsioni sono il sintomo principale della sindrome r (20), ma quali tipi di convulsioni sperimentano gli individui?<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Trattamenti e terapie<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Scopri quali trattamenti e terapie sono disponibili per le persone con sindrome r (20)<\/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\tClicca qui<\/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
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Epilessia e (r20)<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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La sindrome r (20) \u00e8 una forma rara di epilessia complessa. Scopri di pi\u00f9 sull'epilessia er (20) qui ...<\/span><\/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\tClicca qui<\/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
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Viaggio paziente<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Cosa puoi aspettarti quando hai una diagnosi di sindrome r (20)? Abbiamo tracciato un percorso tipico che mostra quali potrebbero essere le tue esigenze nel tempo.<\/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\tClicca qui<\/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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Cerchi maggiori informazioni?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Scarica il nostro foglio informativo in pdf su Ring20 o clicca qui per i modi per contattarci<\/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\tScarica la scheda informativa in pdf<\/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\/it\/r20-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\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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