{"id":15619,"date":"2019-07-22T18:29:32","date_gmt":"2019-07-22T16:29:32","guid":{"rendered":"https:\/\/www.nadaciaadeli.sk\/?p=15619"},"modified":"2019-07-22T18:29:32","modified_gmt":"2019-07-22T16:29:32","slug":"spinalna-atrofia-svetlo-nadeje-pre-postihnutych-pacientov","status":"publish","type":"post","link":"https:\/\/nadaciaadeli.sk\/en\/spinalna-atrofia-svetlo-nadeje-pre-postihnutych-pacientov\/","title":{"rendered":"Svetlo n\u00e1deje pre pacientov postihnut\u00fdch spin\u00e1lnou atrofiou"},"content":{"rendered":"

\"Spin\u00e1lna<\/a><\/h3>\n

\u010co to je spin\u00e1lna svalov\u00e1 atrofia SMA?<\/strong><\/h3>\n

Ak\u00e9ko\u013evek telesn\u00e9 postihnutie dok\u00e1\u017ee pacientovi s\u0165a\u017ei\u0165 \u017eivotn\u00fa situ\u00e1ciu. O to viac, ak sa jedn\u00e1 o z\u00e1kern\u00fa chorobu, ktor\u00e1 postihuje svalov\u00e9 \u00fastrojenstvo. Medzi jednu z ob\u00e1van\u00fdch diagn\u00f3z patr\u00ed aj spin\u00e1lna svalov\u00e1 atrofia (SMA). Rad\u00ed sa do skupiny geneticky podmienen\u00fdch ochoren\u00ed a jej pr\u00ed\u010dinou je degener\u00e1cia motorick\u00fdch buniek predn\u00fdch rohov miechy \/ pred\u013a\u017eenej miechy, \u010do m\u00e1 za n\u00e1sledok \u00fabytok svalovej hmoty. Takto postihnut\u00ed pacienti nedok\u00e1\u017eu poriadne ovl\u00e1da\u0165 svoje telo a vykon\u00e1va\u0165 prirodzen\u00e9 pohyby ako sedie\u0165, st\u00e1\u0165, \u010di chodi\u0165. Vo v\u00e4\u010d\u0161ine pr\u00edpadov b\u00fdvaj\u00fa doln\u00e9 kon\u010datiny viac postihnut\u00e9 ako horn\u00e9, no pri postupe choroby m\u00f4\u017eu ma\u0165 pacienti probl\u00e9my s preh\u013atan\u00edm a d\u00fdchan\u00edm, \u010do dok\u00e1\u017ee v najhor\u0161om pr\u00edpade vies\u0165 k smrti. Kognit\u00edvne a emocion\u00e1lne funkcie pacienta s\u00fa v\u0161ak plne funk\u010dn\u00e9. Pri spin\u00e1lnej svalovej atrofii bu\u010f ch\u00fdba alebo je zmutovan\u00fd g\u00e9n SMN1, ktor\u00fd ovplyv\u0148uje bielkovinu zodpovedaj\u00facu za spr\u00e1vne fungovanie motorick\u00e9ho neur\u00f3nu riadiaceho svalov\u00e9 \u00fastrojenstvo.<\/p>\n

Pravdepodobnos\u0165 ochorenia a\u00a0druhy SMA<\/strong><\/h3>\n

Spin\u00e1lna atrofia patr\u00ed do skupiny vz\u00e1cnych ochoren\u00ed, no napriek tomu sa umiestnila na druhom mieste pri smrte\u013en\u00fdch dedi\u010dn\u00fdch chorob\u00e1ch. Pravdepodobnos\u0165 jej v\u00fdskytu je 1 zo 6000 novoroden\u00fdch det\u00ed. Aby sa ochorenie prejavilo, musia obaja rodi\u010dia pren\u00e1\u0161a\u0165 a\u00a0odovzda\u0165 abnorm\u00e1lny mutovan\u00fd g\u00e9n na svoje die\u0165a. V\u00a0tom pr\u00edpade je pravdepodobnos\u0165 zdedenia poruchy 1:4. Celkovo je nosite\u013eom t\u00fdchto mut\u00e1ci\u00ed 1 \u010dlovek z\u00a035.<\/p>\n

Svalov\u00e1 atrofia m\u00f4\u017ee ma\u0165 r\u00f4zne podoby odr\u00e1\u017eaj\u00fac vek a\u00a0prejavy ochorenia. Del\u00ed sa na \u0161tyri hlavn\u00e9 typy:<\/p>\n

Infantiln\u00fd – SMA I<\/strong><\/h3>\n

Pozn\u00e1me aj pod pomenovan\u00edm ak\u00fatna infantiln\u00e1 forma alebo Werdingov-Hoffmannov syndr\u00f3m, ktor\u00ed ako prv\u00ed pop\u00edsali ochorenie. To sa prejavuje u\u017e v prv\u00fdch 4-6 mesiacoch die\u0165a\u0165a spomalen\u00edm motorick\u00e9ho v\u00fdvoja, o\u010dividn\u00fdmi probl\u00e9mami svalov\u00e9ho \u00fastrojenstva ako svalovou hypot\u00f3niou a v\u00fdrazn\u00fdm ochudobnen\u00edm pohybu. V mnoh\u00fdch pr\u00edpadoch doch\u00e1dza k \u00famrtiu do 2. roku \u017eivota n\u00e1sledkom zlyhania d\u00fdchania, \u010di neschopnosti preh\u013atania.<\/p>\n

Intermedi\u00e1lny \u2013 SMA II<\/strong><\/h3>\n

Prechodn\u00e1 neskoro infantiln\u00e1 forma je zn\u00e1ma aj ako chronick\u00fd typ Werdingov-Hoffmanovej choroby. Objavuje sa medzi 6. a\u017e 24. mesiacom veku die\u0165a\u0165a. Takto postihnut\u00e9 deti sa dok\u00e1\u017eu nau\u010di\u0165 sedie\u0165, \u010di samostatne st\u00e1\u0165 a\u00a0dokonca niektor\u00e9 i\u00a0urobi\u0165 zop\u00e1r krokov. Nikdy v\u0161ak nebud\u00fa schopn\u00e9 \u00faplne samostatne kr\u00e1\u010da\u0165, s\u00a0postupom choroby kles\u00e1 \u00farove\u0148 motorick\u00e9ho v\u00fdvoja. V\u010faka hybnosti r\u00fak v\u0161ak dok\u00e1\u017eu ovl\u00e1da\u0165 elektrick\u00fd voz\u00edk, \u010d\u00edm z\u00edskavaj\u00fa ist\u00fa samostatnos\u0165. Toto \u0161t\u00e1dium ochorenia je sprev\u00e1dzan\u00e9 \u0165a\u017ekou skoli\u00f3zou a respira\u010dn\u00fdmi probl\u00e9mami, \u010do m\u00f4\u017ee vies\u0165 k\u00a0\u00famrtiu. Intelekt postihnut\u00fdch ost\u00e1va neovplyvnen\u00fd. Pri kvalitnej starostlivosti sa vedia pacienti do\u017ei\u0165 30 a\u017e 50 rokov.<\/p>\n

Juventiln\u00fd \u2013 SMA III<\/strong><\/h3>\n

Prejavuje sa a\u017e v pred\u0161kolskom, \u010di \u0161kolskom veku poruchami ch\u00f4dze a narastaj\u00facou slabos\u0165ou svalstva n\u00f4h. S postupom \u010dasu sa zhor\u0161uje aj motorick\u00e9 ovl\u00e1danie horn\u00fdch kon\u010dat\u00edn a trupu. Pribli\u017ene medzi 20. a 40. rokom \u017eivota str\u00e1caj\u00fa pacienti pohyblivos\u0165. Vedia sa v\u0161ak do\u017ei\u0165 vysok\u00e9ho veku.<\/p>\n

Adultn\u00fd \u2013 SMA IV<\/strong><\/h3>\n

Pr\u00edznaky sa objavia a\u017e vo veku 35 \u2013 40 rokov. Nie s\u00fa ale nato\u013eko v\u00fdrazn\u00e9 a\u00a0ani neovplyv\u0148uj\u00fa z\u00e1sadne d\u013a\u017eku \u017eivota. Postup ochorenia je ve\u013emi pomal\u00fd.<\/p>\n

Diagnostika SMA<\/strong><\/h3>\n

Pri podozren\u00ed na spin\u00e1lnu atrofiu m\u00f4\u017eete vyu\u017ei\u0165 r\u00f4zne formy diagnostiky. Prostredn\u00edctvom krvn\u00e9ho testu (anal\u00fdzou DNA), elektromyografick\u00e9ho vy\u0161etrenia, alebo odobrat\u00edm vzorky pri svalovej biopsii viete potvrdi\u0165 \/ vyvr\u00e1ti\u0165 pr\u00edtomnos\u0165 ochorenia.<\/p>\n

Lie\u010dba SMA<\/strong><\/h3>\n

\u017dia\u013e, lie\u010dba pr\u00ed\u010din spin\u00e1lnej atrofie zatia\u013e neexistuje, no je mo\u017en\u00e9 pok\u00fasi\u0165 sa o zmiernenie pr\u00edznakov. Za pomoci podpornej p\u013e\u00facnej ventil\u00e1cie, rehabilit\u00e1cie s\u00a0vyu\u017eit\u00edm Vojtovej met\u00f3dy, vodolie\u010dby a\u00a0elektrolie\u010dby sa spoma\u013euje postup ochorenia. Cie\u013eom je prevencia skoli\u00f3zy,\u00a0osteopor\u00f3zy, d\u00fdchac\u00edch a\u00a0tr\u00e1viacich \u0165a\u017ekost\u00ed, udr\u017ea\u0165 \u010do najdlh\u0161ie hybnos\u0165 a\u00a0zabezpe\u010di\u0165 vzpriamen\u00fd postoj pacienta.<\/p>\n

\u0160peci\u00e1lne nastaven\u00e1 rehabilit\u00e1cia u n\u00e1s v ADELI Medical Center v Pie\u0161\u0165anoch zabezpe\u010duje cielen\u00fd lie\u010debn\u00fd program neurologick\u00e9ho ochorenia pohybu. Aby sme zaru\u010dili maxim\u00e1lny v\u00fdsledok, pacientovi sa individu\u00e1lne venuje skupina 5 a\u017e 6 terapeutov denne po 5 – 6 hod\u00edn. V\u00fdsledkom je zlep\u0161enie motoriky, re\u010dov\u00fdch a kognit\u00edvnych schopnost\u00ed a zv\u00fd\u0161enie samostatnosti a kvality \u017eivota. Lie\u010dba obsahuje aj terapeutick\u00fd program zostaven\u00fd pod\u013ea individu\u00e1lnych potrieb pacienta. Pre\u010d\u00edtajte si viac o rehabilit\u00e1cii TU.<\/u><\/a><\/p>\n

N\u00e1dej v\u00a0podobe ADELI<\/strong><\/h3>\n

Bezpochyby sa jedn\u00e1 o diagn\u00f3zu, ktor\u00e1 u\u017e len pri vysloven\u00ed vyvol\u00e1va paniku. A aj ke\u010f sa V\u00e1m Va\u0161a situ\u00e1cia m\u00f4\u017ee zda\u0165 na prv\u00fd poh\u013ead bezv\u00fdchodiskov\u00e1, u n\u00e1s v ADELI d\u00e1vame \u0161ancu na lep\u0161ie zajtraj\u0161ky aj t\u00fdm naj\u0165a\u017e\u0161\u00edm pr\u00edpadom. Zdravotn\u00e9 pois\u0165ovne iba m\u00e1lokedy prepl\u00e1caj\u00fa potrebn\u00e9 \u00fakony pre pacientov s \u0165a\u017ek\u00fdmi zdravotn\u00fdmi postihnutiami, preto sme sa rozhodli prilo\u017ei\u0165 ruku k dielu. Nad\u00e1cia ADELI bola zalo\u017een\u00e1 v roku 2014 ako priame pokra\u010dovanie ob\u010dianskeho zdru\u017eenia Asoci\u00e1cia pomoci postihnut\u00fdm ADELI, ktor\u00e1 u\u017e 10 rokov pom\u00e1ha pacientom z\u00edska\u0165 finan\u010dn\u00e9 prostriedky na zdravotn\u00fa starostlivos\u0165, ktor\u00fa vy\u017eaduj\u00fa. V\u010faka Va\u0161im 2% z dan\u00ed, organizovan\u00ed \u0161peci\u00e1lnych projektov a podujat\u00ed, verejn\u00fdm zbierkam, darcovsk\u00fdm SMS a charitat\u00edvnym kalend\u00e1rom sa n\u00e1m podarilo zaobstara\u0165 \u0161pi\u010dkov\u00fa kvalitu intenz\u00edvnej a najm\u00e4 individu\u00e1lne navolenej rehabilit\u00e1cie, ktor\u00e1 zabezpe\u010duje pacientom komfortnej\u0161\u00ed a plnohodnotnej\u0161\u00ed \u017eivot a r\u00fdchlej\u0161ie za\u010dlenenie do be\u017en\u00e9ho \u017eivota. Okrem financovania lie\u010dby pon\u00fakame eduka\u010dn\u00e9 semin\u00e1re\u00a0 a soci\u00e1lno-motiva\u010dn\u00e9 poradenstvo.<\/p>\n

Ka\u017ed\u00fd z n\u00e1s m\u00f4\u017ee pom\u00f4c\u0165, dokonca aj t\u00ed, \u010do sami pomoc potrebuj\u00fa. <\/strong><\/h3>\n

Sebasti\u00e1n Vir\u00e1g<\/strong>, alias Sebko sa narodil ako zdrav\u00e9 die\u0165a, no po 4 mesiacoch nastali komplik\u00e1cie a prestali ho posl\u00facha\u0165 svaly. Diagn\u00f3za \u2013 Muskul\u00e1rna atrofia typu 2. Vyhliadky do bud\u00facna mu d\u00e1vali lek\u00e1ri miziv\u00e9. Progn\u00f3za 3 rokov \u017eivota bol verdikt, ktor\u00fd by \u017eiadna matka nechcela po\u010du\u0165 o svojom die\u0165ati. Na\u0161\u0165astie Sebko zabojoval a v apr\u00edli osl\u00e1vil 12 rokov. V\u010faka na\u0161ej intenz\u00edvne nastavenej rehabilit\u00e1cii v ADELI Medical Center v Pie\u0161\u0165anoch sa dok\u00e1\u017ee Sebko za\u010dleni\u0165 do be\u017en\u00e9ho \u017eivota. Ak by mu nebola proced\u00fara umo\u017enen\u00e1, m\u00f4\u017ee sa dosta\u0165 na umel\u00fa p\u013e\u00facnu ventil\u00e1ciu. Zdravotn\u00e9 pois\u0165ovne v\u0161ak neprepl\u00e1caj\u00fa lie\u010dbu dostato\u010dne, preto vyz\u00fdvame v\u0161etk\u00fdch, ktor\u00ed m\u00f4\u017eu, aby prispeli a podie\u013eali sa tak na zlep\u0161en\u00ed zdravotn\u00e9ho stavu tohto mlad\u00e9ho bojovn\u00edka<\/a>.<\/p>\n

\"Sebasti\u00e1n<\/a><\/p>\n

Siln\u00fd \u017eivotn\u00fd pr\u00edbeh m\u00e1 aj 23-ro\u010dn\u00e1 Vierka Hriv\u0148\u00e1kov\u00e1<\/strong>. U\u017e od prv\u00e9ho roku \u017eivota jej bola diagnostikovan\u00e1 infantiln\u00e1 spin\u00e1lna atrofia. Invalidn\u00fd voz\u00edk sa stal ka\u017edodennou s\u00fa\u010das\u0165ou jej \u017eivota. Vierka sa v\u0161ak nikdy nechcela vzd\u00e1va\u0165. Namiesto toho, aby \u013eutovala svoj osud sa rozhodla presk\u00fama\u0165 mo\u017enosti, ktor\u00e9 jej vedia zabezpe\u010di\u0165 kvalitnej\u0161\u00ed \u017eivot. Dnes je po absolvovan\u00ed u\u017e tretieho pobytu v ADELI, v\u010faka \u010domu m\u00e1 viac ohybn\u00e9 ruky a lep\u0161ie udr\u017e\u00ed hlavu. No rovnako ako v Sebkovom pr\u00edpade, lie\u010dba je finan\u010dne ve\u013emi n\u00e1ro\u010dn\u00e1 a rodina jej ju \u017eia\u013e nedok\u00e1\u017ee cel\u00fa zabezpe\u010di\u0165. No Vy m\u00f4\u017eete! Ka\u017ed\u00e1 pomoc sa po\u010d\u00edta a aj V\u00e1\u0161 pr\u00edspevok pom\u00f4\u017ee Vierke k\u00a0samostatnosti a\u00a0\u017eivotu po ktorom t\u00fa\u017ei<\/a>.<\/p>\n

\"Vierka<\/a><\/p>\n

\u010eal\u0161ie inform\u00e1cie o tom ako sa m\u00f4\u017eete zapoji\u0165 a podpori\u0165 ostatn\u00fdch pacientov n\u00e1jdete YOU<\/u>.<\/a><\/p>","protected":false},"excerpt":{"rendered":"

\u010co to je spin\u00e1lna svalov\u00e1 atrofia SMA? Ak\u00e9ko\u013evek telesn\u00e9 postihnutie dok\u00e1\u017ee pacientovi s\u0165a\u017ei\u0165 \u017eivotn\u00fa situ\u00e1ciu. O to viac, ak sa jedn\u00e1 o z\u00e1kern\u00fa chorobu, ktor\u00e1 postihuje svalov\u00e9 \u00fastrojenstvo. Medzi jednu z ob\u00e1van\u00fdch diagn\u00f3z patr\u00ed aj spin\u00e1lna svalov\u00e1 atrofia (SMA). Rad\u00ed sa do skupiny geneticky podmienen\u00fdch ochoren\u00ed a jej pr\u00ed\u010dinou je degener\u00e1cia motorick\u00fdch buniek predn\u00fdch rohov […]<\/p>\n","protected":false},"author":1,"featured_media":15621,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_seopress_robots_primary_cat":"none","_seopress_titles_title":"","_seopress_titles_desc":"","_seopress_robots_index":"","_breakdance_hide_in_design_set":false,"_breakdance_tags":"","footnotes":""},"categories":[56],"tags":[55,57,58,59,60,61,62,63],"class_list":["post-15619","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-clanky","tag-adultny-sma-iv","tag-diagnostika-sma","tag-infantilny-sma-i","tag-intermedialny-sma-ii","tag-juventilny-sma-iii","tag-liecba-sma","tag-sma","tag-spinalna-atrofia"],"acf":[],"_links":{"self":[{"href":"https:\/\/nadaciaadeli.sk\/en\/wp-json\/wp\/v2\/posts\/15619","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nadaciaadeli.sk\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/nadaciaadeli.sk\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/nadaciaadeli.sk\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/nadaciaadeli.sk\/en\/wp-json\/wp\/v2\/comments?post=15619"}],"version-history":[{"count":0,"href":"https:\/\/nadaciaadeli.sk\/en\/wp-json\/wp\/v2\/posts\/15619\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/nadaciaadeli.sk\/en\/wp-json\/wp\/v2\/media\/15621"}],"wp:attachment":[{"href":"https:\/\/nadaciaadeli.sk\/en\/wp-json\/wp\/v2\/media?parent=15619"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/nadaciaadeli.sk\/en\/wp-json\/wp\/v2\/categories?post=15619"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/nadaciaadeli.sk\/en\/wp-json\/wp\/v2\/tags?post=15619"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}