{"id":440,"date":"2021-02-10T15:44:59","date_gmt":"2021-02-10T15:44:59","guid":{"rendered":"https:\/\/ring20researchsupport.co.uk\/?page_id=440"},"modified":"2022-02-09T11:13:18","modified_gmt":"2022-02-09T11:13:18","slug":"what-is-r20-syndrome","status":"publish","type":"page","link":"https:\/\/ring20researchsupport.co.uk\/cs\/for-medics-researchers\/what-is-r20-syndrome\/","title":{"rendered":"Co je r(20) syndrom?"},"content":{"rendered":"<p><span class='tooltipsall tooltip_post_id_custom_697f24e5605040cb973ad9cb4659f890 classtoolTipsCustomShortCode' style='border-bottom:2px dotted #888;'>Prstencov\u00fd chromozom 20<\/span><script type=\"text\/javascript\">jQuery(\"document\").ready(function(){ toolTips('.tooltip_post_id_custom_697f24e5605040cb973ad9cb4659f890','Ring chromosome 20 epilepsy syndrome'); });<\/script> epileptick\u00fd syndrom, tak\u00e9 zn\u00e1m\u00fd jako r(20) syndrom, je vz\u00e1cn\u00e1 chromozom\u00e1ln\u00ed anom\u00e1lie vypl\u00fdvaj\u00edc\u00ed ze zlomu na ka\u017ed\u00e9m rameni chromozomu 20, co\u017e m\u00e1 za n\u00e1sledek tvorbu prstence. U syndromu r(20) je bod zlomu u v\u011bt\u0161iny pacient\u016f v oblasti p13q13.33 chromozomu 20. Rozezn\u00e1vaj\u00ed se dv\u011b odli\u0161n\u00e9 formy, epilepsie s mozaikov\u00fdm a nemozaikov\u00fdm kruhov\u00fdm chromozomem 20. Tento syndrom je charakterizov\u00e1n l\u00e9ka\u0159sky ne\u0159e\u0161itelnou epilepsi\u00ed, no\u010dn\u00edmi jemn\u00fdmi z\u00e1chvaty, probl\u00e9my s chov\u00e1n\u00edm a m\u00edrn\u00fdm ment\u00e1ln\u00edm posti\u017een\u00edm. Na rozd\u00edl od jin\u00fdch chromozom\u00e1ln\u00edch aberac\u00ed je dysmorfismus (velk\u00e1 nebo mal\u00e1 vrozen\u00e1 malformace) hl\u00e1\u0161en jen z\u0159\u00eddka.<\/p>\n\n\n\n<p>Tento syndrom je nepochybn\u011b nedostate\u010dn\u011b diagnostikovan\u00fdm stavem. Dr. Borgaonkar a jeho kolegov\u00e9 z Johns Hopkins University poprv\u00e9 referovali o 3 pacientech se syndromem kruhov\u00e9ho chromozomu 20 v roce 1976. Od t\u00e9 doby bylo v literatu\u0159e pops\u00e1no pouze 60 p\u0159\u00edpad\u016f r(20). Dosud nejsou k dispozici \u017e\u00e1dn\u00e9 publikovan\u00e9 \u00fadaje o incidenci a prevalenci tohoto syndromu. Zd\u00e1 se, \u017ee tato porucha je celoetnick\u00e1 a nen\u00ed genderov\u011b specifick\u00e1. P\u0159\u00edpady tohoto syndromu byly hl\u00e1\u0161eny z mnoha r\u016fzn\u00fdch \u010d\u00e1st\u00ed sv\u011bta zahrnuj\u00edc\u00edch r\u016fzn\u00e1 etnika. T\u00e9m\u011b\u0159 v\u0161echny p\u0159\u00edpady, kter\u00e9 byly hl\u00e1\u0161eny, jsou sporadick\u00e9 bez rodinn\u00e9 anamn\u00e9zy. S roz\u0161\u00ed\u0159en\u011bj\u0161\u00ed cytogenetickou chromozom\u00e1ln\u00ed karyotypizac\u00ed u neetiologick\u00fdch p\u0159\u00edpad\u016f epilepsie v\u0161ak bude nepochybn\u011b rozpozn\u00e1no v\u00edce p\u0159\u00edpad\u016f r(20).(1,2,3 ).<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Epilepsie<\/h2>\n\n\n\n<p>Epilepsie je st\u00e1l\u00fdm znakem tohoto syndromu a v mnoha p\u0159\u00edpadech je neovlivniteln\u00e1 a odoln\u00e1 v\u016f\u010di l\u00e9k\u016fm. \u010cetnost z\u00e1chvat\u016f z\u00e1vis\u00ed na procentu mozaikovitosti s t\u00e9m\u011b\u0159 1001 v\u00fdskytem TP3T v nemozaikov\u00e9 form\u011b. Z\u00e1chvaty jsou komplexn\u00edho parci\u00e1ln\u00edho typu a jsou hl\u00e1\u0161eny jako epizody n\u00e1hl\u00e9ho strachu zm\u011bn\u011bn\u00e9ho uv\u011bdom\u011bn\u00ed se z\u00edr\u00e1n\u00edm, or\u00e1ln\u00edmi automatismy, nespecifikovan\u00fdm automatick\u00fdm chov\u00e1n\u00edm, fok\u00e1ln\u00edmi motorick\u00fdmi p\u0159\u00edznaky a\/nebo ot\u00e1\u010den\u00edm hlavy. Byly pozorov\u00e1ny jemn\u00e9 no\u010dn\u00ed zm\u011bny chov\u00e1n\u00ed, jako je protahov\u00e1n\u00ed, t\u0159en\u00ed a ot\u00e1\u010den\u00ed, kter\u00e9 se podobaj\u00ed norm\u00e1ln\u00edmu chov\u00e1n\u00ed p\u0159i vzru\u0161en\u00ed. Krom\u011b toho jsou hl\u00e1\u0161eny tak\u00e9 jemn\u00e9 no\u010dn\u00ed z\u00e1chvaty (SNS) a jemn\u00e9 no\u010dn\u00ed z\u00e1chvaty front\u00e1ln\u00edho laloku (SNFLS). Z\u00e1chvaty se \u010dasto obt\u00ed\u017en\u011b kontroluj\u00ed antiepileptiky.&nbsp;<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#2_EN\"><sup>4<\/sup><\/a><sup>,&nbsp;<\/sup><a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#3_EN\"><sup>5<\/sup><\/a><sup>, 6,&nbsp;<\/sup><a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#5_EN\"><sup>7<\/sup><\/a><sup>,&nbsp;<\/sup><a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#6_EN\"><sup>8<\/sup><\/a>&nbsp;No\u010dn\u00ed z\u00e1chvaty jsou u tohoto syndromu \u010dast\u00fdm v\u00fdskytem. Z\u00e1chvaty mohou \u010dasto trvat dlouho s voskov\u00e1n\u00edm a sl\u00e1bnouc\u00ed intenzitou. Sekund\u00e1rn\u00ed generalizovan\u00e9 tonicko-klonick\u00e9 z\u00e1chvaty se vyskytuj\u00ed z\u0159\u00eddka.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">elektroencefalografie (<span class='tooltipsall tooltipsincontent classtoolTips1'>EEG<\/span>)<\/h2>\n\n\n\n<p>Elektroencefalografick\u00fd (<span class='tooltipsall tooltipsincontent classtoolTips1'>EEG<\/span>) znaky p\u0159\u00edpad\u016f syndromu r(20) popsan\u00fdch v l\u00e9ka\u0159sk\u00e9 literatu\u0159e mohou vykazovat \u010dast\u00e9 v\u00fdbuchy ost\u0159e konturovan\u00fdch theta vln a prodlou\u017een\u00e9 pr\u016fb\u011bhy front\u00e1ln\u011b dominantn\u00edho zpomalen\u00ed vysok\u00e9ho nap\u011bt\u00ed, prom\u00edchan\u00e9 s front\u00e1ln\u00edmi hroty nebo ostr\u00fdmi vlnami. <span class='tooltipsall tooltipsincontent classtoolTips1'>EEG<\/span> vzory u r(20) syndromu byly ozna\u010deny jako nekonvulzivn\u00ed status epilepticus. Tyto charakteristick\u00e9 vzory mohou b\u00fdt kombinov\u00e1ny s velk\u00fdmi \u010d\u00e1stmi norm\u00e1ln\u00edho vzhledu <span class='tooltipsall tooltipsincontent classtoolTips1'>EEG<\/span> aktivita (9, 10). Prodlou\u017een\u00e9 pr\u016fb\u011bhy interikt\u00e1ln\u00edch bifront\u00e1ln\u00edch komplex\u016f s ostr\u00fdmi a pomal\u00fdmi vlnami jsou pozorov\u00e1ny v z\u00e1znamech prodlou\u017een\u00e9ho sp\u00e1nku a mohou p\u0159edstavovat patognomick\u00fd <span class='tooltipsall tooltipsincontent classtoolTips1'>EEG<\/span> vzor (11).<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Pozn\u00e1n\u00ed a chov\u00e1n\u00ed<\/h2>\n\n\n\n<p>Pozn\u00e1n\u00ed je obvykle norm\u00e1ln\u00ed p\u0159ed propuknut\u00edm epilepsie, ale pokud jsou z\u00e1chvaty \u010dast\u00e9 a p\u0159etrv\u00e1vaj\u00edc\u00ed, existuje mo\u017enost ment\u00e1ln\u00edho posti\u017een\u00ed. Jednotlivci mohou m\u00edt norm\u00e1ln\u00ed pozn\u00e1vac\u00ed schopnosti navzdory obdob\u00edm \u0161patn\u011b kontrolovan\u00e9 epilepsie a jin\u00ed mohou m\u00edt v\u00e1\u017en\u00e9 poruchy u\u010den\u00ed a pot\u0159ebuj\u00ed pomoc se v\u0161emi aspekty ka\u017edodenn\u00edho \u017eivota. Probl\u00e9my s chov\u00e1n\u00edm se mohou li\u0161it od men\u0161\u00edch pot\u00ed\u017e\u00ed s koncentrac\u00ed a pozornost\u00ed s vysokou \u00farovn\u00ed aktivity a\u017e po v\u00e1\u017en\u00e9 probl\u00e9my. U n\u011bkolika d\u011bt\u00ed uv\u00e1d\u011bn\u00fdch v l\u00e9ka\u0159sk\u00e9 literatu\u0159e bylo pops\u00e1no, \u017ee maj\u00ed obdob\u00ed velmi obt\u00ed\u017en\u00e9ho chov\u00e1n\u00ed \u010dasto spojen\u00e9ho se \u0161patnou kontrolou z\u00e1chvat\u016f. Chov\u00e1n\u00ed a kognitivn\u00ed pot\u00ed\u017ee se m\u011bn\u00ed s \u010dasem a mohou se zhor\u0161ovat se zvy\u0161uj\u00edc\u00edmi se z\u00e1chvaty. D\u00edt\u011b v\u0161ak m\u016f\u017ee tyto ztracen\u00e9 dovednosti znovu z\u00edskat lep\u0161\u00ed kontrolou z\u00e1chvat\u016f. .<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#9_EN\"><sup>12<\/sup><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Funkce<\/h2>\n\n\n\n<p>Velk\u00e9 a men\u0161\u00ed malformace v\u010detn\u011b obli\u010dejov\u00e9ho dysmorfismu jsou v mozaikov\u00e9 form\u011b jemn\u00e9 nebo zcela chyb\u00ed. Pacienti s nemozaikov\u00fdm prstencem 20 maj\u00ed \u010dasto dysmorfick\u00e9 rysy a mal\u00fd vzr\u016fst. Naproti tomu pacienti s b\u011b\u017en\u011bj\u0161\u00ed mozaikovou formou vypadaj\u00ed fyzicky norm\u00e1ln\u00ed. Tento nedostatek dysmorfick\u00fdch rys\u016f u syndromu mozaikov\u00e9ho prstence 20 a vynech\u00e1n\u00ed chromozom\u00e1ln\u00edho testov\u00e1n\u00ed u pacient\u016f vede k opo\u017ed\u011bn\u00e9 diagn\u00f3ze [13]. V literatu\u0159e publikovan\u00e9 vz\u00e1cn\u00e9 p\u0159\u00edpady mozaikov\u00e9ho r(20) syndromu s dysmorfick\u00fdmi rysy spo\u010d\u00edvaly v mikrocefalii (<em>obvod hlavy je men\u0161\u00ed ne\u017e norm\u00e1ln\u011b, proto\u017ee mozek se nevyvinul spr\u00e1vn\u011b nebo p\u0159estal r\u016fst<\/em>), plagiocefalie (<em>deformovan\u00e1 lebka<\/em>), zubn\u00ed vady (<em>nesouosost zub\u016f a\/nebo nespr\u00e1vn\u00fd vztah mezi zuby dvou zubn\u00edch oblouk\u016f),<\/em>&nbsp;mikrognatie (<em>je abnorm\u00e1ln\u00ed drobnost doln\u00ed \u010delisti<\/em>), u\u0161i ve tvaru kv\u011bt\u00e1ku a hrub\u00e9 rysy obli\u010deje se \u0161ikm\u00fdmi v\u00ed\u010dky (\u0161ikmo dol\u016f a ven).&nbsp;<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#10_EN\"><sup>14<\/sup><\/a><sup>,&nbsp;<\/sup><a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#11_EN\"><sup>15<\/sup><\/a><\/p>\n\n\n\n<p>Epileptick\u00fd syndrom prstencov\u00e9ho chromozomu 20 je \u010dasto diagnostikov\u00e1n jako idiopatick\u00e1\/kryptogenn\u00ed (neidentifikov\u00e1na etiologie) parci\u00e1ln\u00ed epilepsie front\u00e1ln\u00edho laloku. M\u016f\u017ee b\u00fdt tak\u00e9 zam\u011bn\u011bn s jin\u00fdmi epileptick\u00fdmi syndromy, zejm\u00e9na Lennox-Gastautov\u00fdm syndromem (LGS), kter\u00fd je charakterizov\u00e1n l\u00e9ka\u0159sky odoln\u00fdmi sm\u00ed\u0161en\u00fdmi nezvladateln\u00fdmi z\u00e1chvaty. Na rozd\u00edl od LGS z\u00e1chvaty u r(20) epileptick\u00e9ho syndromu zp\u016fsobuj\u00ed \u010dast\u00e9, prudk\u00e9, kr\u00e1tk\u00e9 z\u00e1chvaty v noci, obvykle za\u010d\u00ednaj\u00edc\u00ed v d\u011btstv\u00ed. Na rozd\u00edl od r(20) syndromu lze z\u00e1chvaty u autozom\u00e1ln\u011b dominantn\u00ed no\u010dn\u00ed epilepsie \u010deln\u00edho laloku (ADNFE) snadno kontrolovat pomoc\u00ed antiepileptik. No\u010dn\u00ed <span class='tooltipsall tooltipsincontent classtoolTips1'>EEG<\/span> vzor v r(20) m\u016f\u017ee m\u00edt tak\u00e9 p\u0159ekr\u00fdvaj\u00edc\u00ed se rysy kontinu\u00e1ln\u00edch vrcholov\u00fdch a vlnov\u00fdch v\u00fdboj\u016f b\u011bhem pomal\u00e9ho sp\u00e1nku (CSWS) a elektrick\u00e9ho statusu epilepticus ve sp\u00e1nku (ESES).&nbsp;<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#12_EN\"><sup>16<\/sup><\/a><sup>,&nbsp;<\/sup><a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#13_EN\"><sup>17<\/sup><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Diagn\u00f3za<\/h2>\n\n\n\n<p>Diagn\u00f3zu syndromu kruhov\u00e9ho chromozomu 20 lze prov\u00e9st rozpozn\u00e1n\u00edm ur\u010dit\u00fdch charakteristick\u00fdch klinick\u00fdch znak\u016f; definitivn\u00ed diagn\u00f3za v\u0161ak vy\u017eaduje chromozom\u00e1ln\u00ed testov\u00e1n\u00ed bun\u011bk posti\u017een\u00e9 osoby. To se nejsn\u00e1ze provede pohledem na chromozomov\u00fd vzor (karyotyp) v krevn\u00edch bu\u0148k\u00e1ch, ale lze vy\u0161et\u0159it jakoukoli jinou tk\u00e1\u0148 v\u010detn\u011b k\u016f\u017ee. Vzhledem k tomu, \u017ee chromozom\u00e1ln\u00ed anal\u00fdza nebo testov\u00e1n\u00ed karyotypu nen\u00ed rutinn\u00edm vy\u0161et\u0159en\u00edm, kdy\u017e se epilepsie poprv\u00e9 projev\u00ed, m\u016f\u017ee b\u00fdt diagn\u00f3za syndromu r(20) opo\u017ed\u011bna nebo m\u016f\u017ee z\u016fstat nerozpozn\u00e1na. Jin\u00fdmi slovy, n\u011bkte\u0159\u00ed lid\u00e9 s obt\u00ed\u017en\u011b kontrolovatelnou epilepsi\u00ed mohou m\u00edt prstencov\u00fd chromozom 20, ale neuv\u011bdomuj\u00ed si to. Pacienti s nemozaikov\u00fdm r(20) jsou \u010dasto diagnostikov\u00e1ni d\u0159\u00edve kv\u016fli p\u0159\u00edtomnosti dysmorfick\u00fdch rys\u016f a v\u00fdvojov\u00e9ho zpo\u017ed\u011bn\u00ed vedouc\u00edho k \u010dasn\u00e9mu chromozom\u00e1ln\u00edmu testov\u00e1n\u00ed. T\u00e9m\u011b\u0159 v\u0161ichni rodi\u010de jedinc\u016f se syndromem r(20) nemaj\u00ed p\u0159i anal\u00fdze vlastn\u00edch krevn\u00edch chromozom\u016f \u017e\u00e1dn\u00fd d\u016fkaz syndromu r(20). U n\u011bkolika jedinc\u016f, typicky p\u0159\u00edbuzn\u00fdch posti\u017een\u00fdch pacient\u016f, bylo zji\u0161t\u011bno, \u017ee maj\u00ed prstencov\u00fd chromozom 20 bez jak\u00fdchkoliv p\u0159\u00edznak\u016f. Pro\u010d jsou tito lid\u00e9 chr\u00e1n\u011bni p\u0159ed rozvojem epilepsie, z\u016fst\u00e1v\u00e1 nezn\u00e1m\u00e9. Nov\u011bj\u0161\u00ed genetick\u00e9 testov\u00e1n\u00ed, jako je chromozom\u00e1ln\u00ed microarray (CMA), tento syndrom neodhal\u00ed, proto\u017ee touto metodou nelze detekovat struktur\u00e1ln\u00ed aberaci. Neurozobrazovac\u00ed studie a metabolick\u00e9 studie jsou u t\u00e9to poruchy nezn\u00e1m\u00e9. 18,19&nbsp;<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#16_EN\"><sup>20<\/sup><\/a><sup>,&nbsp;<\/sup><a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#17_EN\"><sup>21<\/sup><\/a><sup>,&nbsp;<\/sup><a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#18_EN\"><sup>22<\/sup><\/a>. Video-<span class='tooltipsall tooltipsincontent classtoolTips1'>EEG<\/span> monitorov\u00e1n\u00ed je cenn\u00e9 p\u0159i diagnostice a identifikaci charakteristiky <span class='tooltipsall tooltipsincontent classtoolTips1'>EEG<\/span> vzory. Invazivn\u00ed <span class='tooltipsall tooltipsincontent classtoolTips1'>EEG<\/span> monitorov\u00e1n\u00ed intrakrani\u00e1ln\u00edmi elektrodami nen\u00ed indikov\u00e1no, proto\u017ee se u chromozom\u00e1ln\u00edho syndromu neo\u010dek\u00e1v\u00e1 detekce \u017e\u00e1dn\u00e9ho diskr\u00e9tn\u00edho epileptick\u00e9ho lo\u017eiska.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">L\u00e9\u010dba<\/h2>\n\n\n\n<p>L\u00e9\u010dba d\u011bt\u00ed s r(20) je symptomatick\u00e1. Kontrola z\u00e1chvat\u016f je velmi d\u016fle\u017eit\u00e1. Z\u00e1chvaty se obvykle obt\u00ed\u017en\u011b l\u00e9\u010d\u00ed. Celkov\u00e1 l\u00e9\u010dba je n\u00e1ro\u010dn\u011bj\u0161\u00ed u pacient\u016f s nemozaikovou formou. U mozaikov\u00fdch forem m\u016f\u017ee odpov\u011b\u010f na l\u00e9\u010dbu nep\u0159\u00edmo korelovat s procentem mozaiky. Antiepileptika (AED) jsou hlavn\u00ed a prvn\u00ed lini\u00ed l\u00e9\u010dby, stejn\u011b jako u jin\u00fdch nel\u00e9\u010diteln\u00fdch epileptick\u00fdch syndrom\u016f. Ze studie publikovan\u00e9 literatury se zd\u00e1, \u017ee \u017e\u00e1dn\u00fd l\u00e9k nen\u00ed lep\u0161\u00ed ne\u017e kter\u00fdkoli jin\u00fd l\u00e9k a pacienti jsou \u010dasto vystaveni v\u00edce antiepileptik\u016fm. Krom\u011b toho se odpov\u011b\u010f na l\u00e9\u010dbu mezi star\u0161\u00edmi a nov\u011bj\u0161\u00edmi AED neli\u0161\u00ed. Nane\u0161t\u011bst\u00ed je obt\u00ed\u017en\u00e9 kontrolovat z\u00e1chvaty antiepileptiky a mohou vy\u017eadovat zv\u00e1\u017een\u00ed alternativn\u00ed l\u00e9\u010dby.<\/p>\n\n\n\n<p>Dal\u0161\u00edmi alternativami k l\u00e9\u010db\u011b antiepileptiky jsou ketogenn\u00ed dieta (KD) a stimulace vagusov\u00e9ho nervu (VNS). Operace epilepsie nep\u0159ich\u00e1z\u00ed v \u00favahu. Epilepsie u syndromu r(20) nen\u00ed vhodn\u00e1 k resektivn\u00ed operaci kv\u016fli nedostatku diskr\u00e9tn\u00edch epileptick\u00fdch oblast\u00ed. Stimulace vagusov\u00e9ho nervu byla \u00fasp\u011b\u0161n\u00e1 v n\u011bkolika p\u0159\u00edpadech uv\u00e1d\u011bn\u00fdch v literatu\u0159e. KD je dieta s vysok\u00fdm obsahem tuku a n\u00edzk\u00fdm obsahem sacharid\u016f pou\u017e\u00edvan\u00e1 pro jin\u00e9 ne\u0159e\u0161iteln\u00e9 d\u011btsk\u00e9 epilepsie. Neexistuj\u00ed \u017e\u00e1dn\u00e9 publikovan\u00e9 zpr\u00e1vy o pou\u017eit\u00ed ketogenn\u00ed diety u pacient\u016f se syndromem r(20), nicm\u00e9n\u011b jej\u00ed \u00fa\u010dinnost a bezpe\u010dnost je dob\u0159e prok\u00e1z\u00e1na u jin\u00fdch nel\u00e9\u010diteln\u00fdch epilepsi\u00ed, jako je Lennox-Gastaut\u016fv syndrom. Role jin\u00fdch nekonven\u010dn\u00edch zp\u016fsob\u016f l\u00e9\u010dby epilepsie nen\u00ed pro l\u00e9\u010dbu r(20) syndromu stanovena20&nbsp;<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#20_EN\"><sup>23<\/sup><\/a><sup>,&nbsp;<\/sup><a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#21_EN\"><sup>24<\/sup><\/a>,25<\/p>\n\n\n\n<p>Dlouhodob\u00fd v\u00fdsledek syndromu nen\u00ed zn\u00e1m. Nen\u00ed smrteln\u00e1, nicm\u00e9n\u011b pacient, kter\u00fd m\u00e1 \u010dast\u00e9 epileptick\u00e9 z\u00e1chvaty, je ohro\u017een dal\u0161\u00edmi komplikacemi epilepsie v\u010detn\u011b status epilepticus a n\u00e1hl\u00e9 neo\u010dek\u00e1van\u00e9 smrti u epilepsie (SUDEP). Nejlep\u0161\u00edm prediktorem je pravd\u011bpodobn\u011b stupe\u0148 kontroly z\u00e1chvat\u016f.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Z\u00e1v\u011br:<\/h2>\n\n\n\n<p>Kruhov\u00fd chromozom 20 je refraktern\u00ed parci\u00e1ln\u00ed epileptick\u00fd syndrom s rysy front\u00e1ln\u00edho laloku. Rozli\u0161uj\u00ed se dv\u011b odli\u0161n\u00e9 formy, b\u011b\u017en\u011bj\u0161\u00ed mozaikov\u00e1 a vz\u00e1cn\u00e1 nemozaikov\u00e1 forma. Pacienti s mozaikovou formou nemaj\u00ed dysmorfismus vedouc\u00ed k opo\u017ed\u011bn\u00e9mu chromozom\u00e1ln\u00edmu testov\u00e1n\u00ed a opo\u017ed\u011bn\u00e9 diagn\u00f3ze. Naproti tomu nemosiak\u00e1ln\u00ed formy maj\u00ed v\u00fdvojov\u00e9 zpo\u017ed\u011bn\u00ed a dysmorfismy vedouc\u00ed k \u010dasn\u00e9mu chromozom\u00e1ln\u00edmu testov\u00e1n\u00ed a \u010dasn\u011bj\u0161\u00ed diagn\u00f3ze. Definitivn\u00ed diagn\u00f3zu lze stanovit pouze konven\u010dn\u00ed chromozom\u00e1ln\u00ed karyotypizac\u00ed s mozaikov\u00fdm screeningem. V mozaikov\u00fdch form\u00e1ch nen\u00ed pozorov\u00e1no \u017e\u00e1dn\u00e9 odstran\u011bn\u00ed genetick\u00e9ho materi\u00e1lu. U pacient\u016f s nemozaikov\u00fdmi pacienty byly hl\u00e1\u0161eny delece. L\u00e9\u010dba je \u010dasto obt\u00ed\u017en\u00e1 s pokra\u010duj\u00edc\u00edmi medic\u00ednsky refraktern\u00edmi z\u00e1chvaty s celkov\u011b lep\u0161\u00ed progn\u00f3zou u mozaikov\u00e9ho typu.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Reference<\/h2>\n\n\n\n<ol class=\"wp-block-list\"><li>Borgaonkar DS, Lacassie YE, Stoll C. U\u017eite\u010dnost katalogu chromozom\u016f p\u0159i vymezov\u00e1n\u00ed nov\u00fdch syndrom\u016f. Vrozen\u00e9 vady Orig Artic Ser. 1976;12(5):87-95.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Hosain S, prstencov\u00fd chromozom 20 Epileptick\u00fd syndrom: P\u0159ehled. Pokroky v klinick\u00e9 neurov\u011bd\u011b a rehabilitaci Ro\u010dn\u00edk 9: \u010c\u00edslo 1, b\u0159ezen duben 2009.<\/li><li><strong>Hosain<\/strong>&nbsp;S, Conlin L, Spinner N. Prstencov\u00fd chromozom 20 Epileptick\u00fd syndrom. An Overview.J Pediatric Epilepsiy: Vol 1, (1) 2011.<\/li><li>Augustijn PB, Parra J, Wouters CH, Joosten P, Lindhout D, van Emde Boas W. Syndrom epilepsie na kruhov\u00e9m chromozomu 20 u d\u011bt\u00ed: elektroklinick\u00e9 rysy. Neurologie. 25. z\u00e1\u0159\u00ed 2001;57(6):1108-11.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Inoue Y, Fujiwara T, Matsuda K, Kubota H, Tanaka M, Yagi K, Yamamori K, Takahashi Y. Ring chromozom 20 a nekonvulzivn\u00ed epileptick\u00fd stav. Nov\u00fd epileptick\u00fd syndrom. Mozek. \u010derven 1997;120 (Pt 6):939-53.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Canevini MP, Sgro V, Zuffardi O, Canger R, Carrozzo R, Rossi E, Ledbetter D, Minicucci F, Vignoli A, Piazzini A, Guidolin L, Saltarelli A, dalla Bernardina B. Chromozom 20: chromozom\u00e1ln\u00ed porucha spojen\u00e1 s konkr\u00e9tn\u00ed elektroklinick\u00fd vzor. epilepsie. 1998 z\u00e1\u0159\u00ed;39(9):942-51.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>de Falco FA, Olivieri P, de Falco A, Concolino D, Battaglia F, Verardi R, Grande G, Stabile M. Elektroklinick\u00e1 evoluce u syndromu epilepsie kruhov\u00e9ho chromozomu 20: p\u0159\u00edpad se z\u00e1va\u017en\u00fdmi fenotypov\u00fdmi rysy sledovan\u00fd po dobu 25 let. 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Nekonvulzivn\u00ed stav u syndromu kruhov\u00e9ho chromozomu 20: video ilustrace 3 p\u0159\u00edpad\u016f. Epileptick\u00e1 porucha. 1999 prosinec;1(4):237-41.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Daber R, Conlin L, Leonard L, Hosain S, Spinner N. Ring Chromozom 20. Recenze. Am J l\u00e9ka\u0159sk\u00e9 genetiky. (2012).<\/li><li>Herrgard E, Mononen T, Mervaala E, Kuusela L, Aikia M, Stenback U, Paakkonen L, Airaksinen RL, Kalviainen R. Z\u00e1va\u017en\u011bj\u0161\u00ed epilepsie a kognitivn\u00ed poruchy u potomk\u016f matky s mozaikou pro prstencov\u00fd 20 chromozom. Epilepsie Res. leden 2007;73(1):122-8.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Conlin L, Kramer W, Hutchinson A, Li X, Reithman H, Scheffer I, Berkovic S,&nbsp;<strong>Hosain S<\/strong>, Spinner N, Molekul\u00e1rn\u00ed anal\u00fdza syndromu kruhov\u00e9ho chromozomu 20 odhalila 2 odli\u0161n\u00e9 skupiny pacient\u016f. J Med Genetics: 10:1136\/jmg.2010<\/li><li>Garcia DM, Ortiz R, Gomez A, Barriuso E. Syndrom chromozomu Ring 20 s epilepsi\u00ed a dysmorfick\u00fdmi rysy: kazuistika. epilepsie. Prosinec 2001;42(12):1607-10.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Macleod S, Mallik A, Tolmie JL, Stephenson JB, O&#039;Regan ME, Zuberi SM.<br>Elektroklinick\u00e9 fenotypy chromozomov\u00fdch poruch spojen\u00fdch s epilepsi\u00ed v nep\u0159\u00edtomnosti dysmorfismu. Brain Dev. b\u0159ezen 2005;27(2):118-24.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Combi R, Dalpra L, Tenchini ML, Ferini-Strambi L. Autosom\u00e1ln\u011b dominantn\u00ed no\u010dn\u00ed epilepsie \u010deln\u00edho laloku. Kritick\u00fd p\u0159ehled. J Neurol 2004 srpen; 251(8): 923-34<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Steinlein, OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. Missense mutace v neuron\u00e1ln\u00edm nikotinokov\u00e9m acetylcholinov\u00e9m receptoru alfa pro podjednotku je spojena s autosom\u00e1ln\u011b dominantn\u00ed no\u010dn\u00ed epilepsi\u00ed front\u00e1ln\u00edho laloku. Nat Genet 1995 11: 201-203<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Kosztolanyi, G. Existuje \u201ekruhov\u00fd syndrom\u201c? Anal\u00fdza 207 kazuistik pacient\u016f s kruhov\u00fdm autozomem. Hum Genet. 1987 \u00fanor;75(2):174-9. 12.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Serrano-Castro PJ, Aguilar Castillo MJ. K: \u201eMozaicismus a n\u00e1stup z\u00e1chvat\u016f u syndromu kruhov\u00e9ho chromozomu 20\u201c. Acta Neurol Scand. z\u00e1\u0159\u00ed 2005;112(3):202;<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Yamadera H, Kobayashi K, Sugai K, Suda H, Kaneko S. Studie karyotypu chromozomu 20 s epilepsi\u00ed. Psychiatrie Clin Neurosci. \u00fanor 1998;52(1):63-8. Posouzen\u00ed.&nbsp;<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Garcia-Cruz D, Vasquez AI, Perez-Rulfo D, Davalos NO, Penaloza J, Garcia-Ortiz JE, Patino-Garcia B, Sanchez-Corona J. Ring-20-syndrom a ztr\u00e1ta telomerick\u00fdch oblast\u00ed. Ann Genet. 2000 43(3-4): 113-6<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Nishiwaki T, Hirano M, Kumazawa M, Ueno S. Mozaicismus a fenotyp u syndromu kruhov\u00e9ho chromozomu 20. Acta Neurol Scand. b\u0159ezen 2005;111(3):205-8<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Alpman A, Serdaroglu G, Cogulu O, Tekgul H, Gokben S, Ozkinay F. Syndrom prstencov\u00e9ho chromozomu 20 s nezvl\u00e1dnutelnou epilepsi\u00ed. Dev Med Child Neurol. 2005 kv\u011bten;47(5):343-6.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Parr JR, Pang K, Mollett A, Zaiwalla Z, Selway R, McCormick D, Jayawant S. Epilepsie reaguje na stimulaci nervus vagus u syndromu kruhov\u00e9ho chromozomu 20. Dev Med Child Neurol. leden 2006;48(1):80&nbsp;<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><li>Chawla J, Sucholeiki R, Jones C, Silver K. Ne\u0159e\u0161iteln\u00e1 epilepsie se syndromem prstencov\u00e9ho chromozomu 20 l\u00e9\u010den\u00e1 stimulac\u00ed vagov\u00e9ho nervu: kazuistika a p\u0159ehled literatury. J Child Neurol. \u0159\u00edjen 2002;17(10):778-80.<a href=\"http:\/\/www.glg-group.com\/cms\/ajax\/get_page.php?architecture_id=1541#TOP_EN\">\u2191<\/a><\/li><\/ol>\n<script type=\"text\/javascript\"> toolTips('.classtoolTips1','Electroencephalography'); <\/script>","protected":false},"excerpt":{"rendered":"<p>epilepsy syndrome, also known as r(20) syndrome, is a rare chromosomal anomaly resulting from a break on each arm of chromosome 20 resulting in ring formation. In r(20) syndrome, the breakpoint of most patients is in the p13q13.33 region of chromosome 20.\u00a0Two distinct forms are recognized, mosaic and non-mosaic ring chromosome 20 epilepsy syndrome.\u00a0This syndrome [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":76,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"site-sidebar-layout":"default","site-content-layout":"default","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":"","ast-breadcrumbs-content":"","ast-featured-img":"","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-440","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>What is r(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\/cs\/for-medics-researchers\/what-is-r20-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"cs_CZ\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"What is r(20) syndrome? - Ring20 Research and Support UK CIO\" \/>\n<meta property=\"og:description\" content=\"epilepsy syndrome, also known as r(20) syndrome, is a rare chromosomal anomaly resulting from a break on each arm of chromosome 20 resulting in ring formation. 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