{"id":106815,"date":"2020-02-13T13:26:54","date_gmt":"2020-02-13T12:26:54","guid":{"rendered":"https:\/\/sdk.mk\/?p=106815"},"modified":"2020-02-16T08:43:47","modified_gmt":"2020-02-16T07:43:47","slug":"ju-njoftojme-me-semundjet-e-rralla-friedreich-ataxia","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-friedreich-ataxia\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: FRIEDREICH ATAXIA"},"content":{"rendered":"<div class=\"f52428582a4b906b2d2e2a7d733c7d27\" data-index=\"7\" style=\"float: none; margin:10px 0 10px 0; text-align:center;\">\n<!-- MSP Ads Asynchronous JS Tag - Generated with Revive Adserver v5.4.1 -->\r\n<ins data-revive-zoneid=\"167\" data-revive-id=\"060fdb01f6430ec164d3519234aa4967\"><\/ins>\r\n<script async src=\"\/\/panel.ads.com.mk\/www\/delivery\/asyncjs.php\"><\/script>\n<\/div>\n<p><a href=\"https:\/\/www.youtube.com\/watch?v=qP8APHLqNMo&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=14&amp;t=0s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Friedreich ataxia<\/strong><\/em><\/a><\/p>\n<p>KNS G 11.1<br \/>\nFriedreich ataxia<\/p>\n<p>Friedreich ataxia (FA) paraqet nj\u00eb s\u00ebmundje e rrall\u00eb e cila zakonisht e atakon sistemin nervor dhe zemr\u00ebn. P\u00ebr her\u00eb t\u00eb par\u00eb k\u00ebt\u00eb s\u00ebmundje e ka p\u00ebrshkruar mjeku gjerman Nikolaus Fridrajh n\u00eb vitin 1863, sipas t\u00eb cilit edhe e mban emrin kjo s\u00ebmundje. Shkaku p\u00ebr k\u00ebt\u00eb s\u00ebmundje \u00ebsht\u00eb mungesa e protein\u00ebs frataksin\u00eb.<\/p>\n<p>Besohet q\u00eb frataksina ndikon si rezervoar i hekurit, duke e \u00e7liruar t\u00eb njejtin vet\u00ebm kur organizmi ka nevoj\u00eb p\u00ebr t\u00eb. N\u00eb raste kur frataksina \u00ebsht\u00eb n\u00eb sasi t\u00eb pamjaftushme, hekuri grumbullohet n\u00eb mitokondriet e qelizave n\u00eb sasi jonormale, si pasoj\u00eb ndodh stresi oksidativ, q\u00eb \u00ebsht\u00eb shkaku esencial p\u00ebr d\u00ebmtimin e mitokondrive, dhe pastaj edhe t\u00eb vet\u00eb qeliz\u00ebs.<br \/>\nMitokondria luan rolin e burimit primar t\u00eb energjis\u00eb gati se p\u00ebr t\u00eb gjitha qelizat n\u00eb trupin ton\u00eb, prandaj edhe \u00ebsht\u00eb aq i r\u00ebnd\u00ebsish\u00ebm ndikimi i frataksin\u00ebs n\u00eb qelizat e sistemi nervor, zemr\u00ebs, dhe shpesh edhe t\u00eb indeve tjera.<br \/>\nSimptomat ky\u00e7e neurologjike p\u00ebrfshijn\u00eb dob\u00ebsim t\u00eb muskujve dhe ataksi, humbje t\u00eb baraspesh\u00ebs dhe t\u00eb koordinimit t\u00eb l\u00ebvizjeve. Intelekti mbetet i paprekur. D\u00ebmtimi i zemr\u00ebs fillon me disa \u00e7regullime t\u00eb lehta gjer n\u00eb \u00e7rregullime serioze t\u00eb rrezikshme p\u00ebr jet\u00ebn. Friedreich ataxia \u00ebsht\u00eb s\u00ebmundje trash\u00ebguese si pasoj\u00eb e mutacionit t\u00eb gjeneve dhe mund t\u00eb bartet nga gjenerata n\u00eb gjenerat\u00eb, por mund t\u00eb mos v\u00ebrrehet me qindra vite nga an\u00ebtar\u00ebt e familjes, dhe k\u00ebshtu duke mos e ditur q\u00eb jan\u00eb bart\u00ebs t\u00eb s\u00ebmundjes.<\/p>\n<p>N\u00eb bot\u00eb kjo s\u00ebmundje godet 1 nga 50000 njer\u00ebz dhe takon n\u00eb grupin e s\u00ebmundjeve t\u00eb lidhura mes vehte, t\u00eb quajtura si ataksi trash\u00ebguese.<\/p>\n<p>Zakonisht, ataksia n\u00eb fillim i p\u00ebrfshin k\u00ebmb\u00ebt dhe torzon, q\u00eb sjell gjer te pengimi i shpesht\u00eb gjat\u00eb ecjes, l\u00ebvizje jostabile. Aft\u00ebsia p\u00ebr t\u00eb mbajtur baraspesh\u00eb dhe t\u00eb koordinohen l\u00ebvizjet me kalimin e koh\u00ebs vjen duke u humbur, kurse muskujt e k\u00ebmb\u00ebve dob\u00ebsohen dhe lodhen leht\u00eb, dh\u00eb k\u00ebshtu p\u00ebr pacientin l\u00ebvizja b\u00ebhet m\u00eb e v\u00ebshtir\u00ebsuar. Nevoja p\u00ebr karroc\u00eb invalid\u00ebsh shfaqet rreth 5 gjer 15 vjet nga fillimi i s\u00ebmundjes. Disa vite m\u00eb von\u00eb pacient\u00ebt me ataksin\u00eb e Fridrajh mund t\u00eb ken\u00eb probleme me t\u00eb folurit dhe fjal\u00ebt e tyre i perceptojm\u00eb si t\u00eb ngadalshme, t\u00eb folur t\u00eb \u00e7uditsh\u00ebm, m\u00eb mir\u00eb i njohur si dizartri. Ky problem \u00ebsht\u00eb i shkaktuar nga mungesa e koordinimit dhe dob\u00ebsimi i gjuh\u00ebs dhe i muskujve t\u00eb tjer\u00eb n\u00eb fytyr\u00eb, dhe jo nga d\u00ebmtimi i aft\u00ebsive gjuh\u00ebsore apo intelektuale. Disa njer\u00ebz, gjithashtu , zhvillojn\u00eb probleme me g\u00eblltitjen, ose disfagi q\u00eb mund t\u00eb shkaktoj\u00eb q\u00eb ushqimi t\u00eb futet n\u00eb rrug\u00ebt e frym\u00ebmarrjes, gjegj\u00ebsisht t\u00eb vij\u00eb gjer te mbytja ose infeksionet respiratore.<br \/>\nD\u00ebmtimi senzorik:<br \/>\nHumbja e ndjesis\u00eb p\u00ebr prekje gjithashtu mund t\u00eb jet\u00eb nj\u00ebri nga simptomet e Friedreich ataxia, por shum\u00eb shpesh mund t\u00eb zbulohet vet\u00ebm p\u00ebrmes testimit laboratorik. Nj\u00ebra nga karakteristikat e fazave fillestare t\u00eb s\u00ebmundjes \u00ebsht\u00eb konfuzioni gjat\u00eb p\u00ebrcaktimit ku \u00ebsht\u00eb i vendosur sendi n\u00eb sip\u00ebrfaqe, kurse problemi me percepcionin e drit\u00ebs, dhimbjes dhe temperatures \u00ebsht\u00eb i lidhur me fazat e m\u00ebvonshme. Tek num\u00ebr i vog\u00ebl i pacient\u00ebve, s\u00ebmundja gjithashtu mund t\u00eb shpie gjer te d\u00ebmtimi i t\u00eb pamurit dhe i d\u00ebgjimit.<br \/>\nDeformime skeletore:<br \/>\nDisa deformime skeletore jan\u00eb t\u00eb zakonshme p\u00ebr Friedreich ataxia. M\u00eb shum\u00eb se gjysma e pacient\u00ebve kan\u00eb \u201cPes kavus\u201d \u2013 shput\u00eb me hark t\u00eb lart\u00eb. P\u00ebr ata q\u00eb akoma mund t\u00eb ecin, ky deformitet mund t\u00eb shkaktoj\u00eb trashje dhe flluska t\u00eb l\u00ebkur\u00ebs. K\u00ebta deformitete shkaktojn\u00eb ngarkim t\u00eb madh t\u00eb eshtrave metatarzale, dhe mund t\u00eb shpie gjer te paraqitja e dhimbjes n\u00eb regjionin e kock\u00ebs s\u00eb shput\u00ebs. Te 80% e rasteve mund sakt\u00eb t\u00eb identifikohen shkaqet p\u00ebr pes kavus dhe mund t\u00eb ken\u00eb s\u00ebmundje neuromuskulare (distrofia muskulare, paraliza cerebrale, siringomielia), fraktura, t\u00eb djegura kurse te pjesa tjet\u00ebr 20% e rasteve shkaqet nuk jan\u00eb t\u00eb ditura n\u00eb t\u00ebr\u00ebsi dhe supozohet q\u00eb b\u00ebhet fjal\u00eb p\u00ebr predispozicion gjenetik. Tek dy t\u00eb tretat e pacient\u00ebve v\u00ebrrehet skolioz\u00eb agressive dhe shum\u00eb e shprehur q\u00eb mund t\u00eb shkaktoj\u00eb dhimbje. K\u00ebta deformime skeletore shpesh shfaqen te s\u00ebmundjet neuromuskulare. Ashtu q\u00eb, me vet\u00eb faktin q\u00eb shputa e harkuar dhe skolioza shfaqen shum\u00eb her\u00ebt te Friedreich ataxia (te disa skolioza \u00ebsht\u00eb edhe shenja e par\u00eb), ekzistojn\u00eb spekulime q\u00eb mungesa e frataksin\u00ebs ndikon n\u00eb m\u00ebnyr\u00eb direkte n\u00eb zhvillimin e kockave.<br \/>\nProblemet e zemr\u00ebs:<br \/>\nAnomalit\u00eb e zemr\u00ebs paraqiten te 75% e personave me Friedreich ataxia, por ka dallime n\u00eb shkall\u00ebn e d\u00ebmtimit. Prap\u00eb se prap\u00eb te shumica e njer\u00ebzve, problemet me zemr\u00ebn jan\u00eb t\u00eb rrezikshme p\u00ebr jet\u00ebn, ashtu q\u00eb problemet me zemr\u00ebn jan\u00eb shkaku kryesor p\u00ebr vdekje te k\u00ebta pacient\u00eb.<br \/>\nHipertrofia e zemr\u00ebs s\u00eb majt\u00eb \u00ebsht\u00eb shum\u00eb e shpesht\u00eb te Friedreich ataxia, gjegj\u00ebsisht zmadhimi i muskulit t\u00eb zemr\u00ebs, i cili e ngushton barkush\u00ebn e mbushur me gjak n\u00eb zem\u00ebr, e zvog\u00eblon kapacitetin e pompimit dhe mund t\u00eb shkaktoj\u00eb aritmi e cila nuk mund tu p\u00ebrshtatet nevojave t\u00eb organizmit. Lodhja ekstreme, dhimbja n\u00eb gjoks, dispnea mund t\u00eb jen\u00eb simptomat e fuksionit t\u00eb dob\u00ebsuar t\u00eb zemr\u00ebs. Dijagnostikimi prenatal \u00ebsht\u00eb i mundsh\u00ebm te familjet tek t\u00eb cilat ve\u00e7 m\u00eb \u00ebsht\u00eb identifikuar mutacion gjenetik.<\/p>\n<p>Konsulta gjenetike:<br \/>\nFriedreich ataxia trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale recisive. K\u00ebshillimi gjenetik \u00ebsht\u00eb i mundsh\u00ebm.<br \/>\nMenaxhimi dhe trajtimi:<br \/>\nSh\u00ebrrim nga kjo s\u00ebmundje p\u00ebr momentin nuk ka, kurse menaxhim \u00ebsht\u00eb multidisciplinar. Terapia fizikale dhe p\u00ebrdorimi i mjeteve ndihm\u00ebse p\u00ebr ecje, protezave dhe karrocave p\u00ebr invalid\u00eb ndihmojn\u00eb p\u00ebr t\u00eb pasur nj\u00eb stil aktiv jetese. Ndonj\u00ebher\u00eb nevojitet ndihma e logopedit. Programet p\u00ebr zgjatje dhe p\u00ebrdorimi i agenseve farmakologjike (baklofen dhe toksin\u00eb t\u00eb botulin\u00ebs) ndihmojn\u00eb n\u00eb redukimin e spasticitetit. Trajtimi i s\u00ebmundjeve t\u00eb zemr\u00ebs p\u00ebrfshin antikoagulans\u00eb, antiaritmik\u00ebve dhe pejsmejker\u00ebve. Pacient\u00ebt me diabetes mellitus zakonisht kan\u00eb nevoj\u00eb p\u00ebr insulin\u00eb. K\u00ebshillimi psikologjik mund gjithashtu t\u00eb ofrohet si opsion. Ndjekja e vazhdueshme te k\u00ebta pacient\u00eb duhe t\u00eb p\u00ebrfshij\u00eb EKG, ekokardiografi dhe testim t\u00eb nivelit t\u00eb glukoz\u00ebs n\u00eb gjak dhe t\u00eb hemoglobin\u00ebs t\u00eb glikolizuar (HbA1c).<br \/>\nPrognoza:<br \/>\nMund\u00ebsit\u00eb p\u00ebr prognoz\u00eb m\u00eb t\u00eb mir\u00eb, jan\u00eb m\u00eb t\u00eb m\u00ebdha, por cil\u00ebsia e jet\u00ebs ende \u00ebsht\u00eb shum\u00eb e prekur. Jet\u00ebgjat\u00ebsia mesatare \u00ebsht\u00eb rreth 40 vjet, var\u00ebsisht nga mosha e fillimit t\u00eb simptomave klinike t\u00eb k\u00ebsaj s\u00ebmundjeje, si dhe nga prezenca e diabetit dhe kardiomiopatis\u00eb. Vdekja zakonisht vjen si pasoj\u00eb e s\u00ebmundjeve t\u00eb zemr\u00ebs (insuficienc\u00eb t\u00eb zemr\u00ebs ose artimi) dhe nga bronkopneumonia.<\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Friedreich ataxia KNS G 11.1 Friedreich ataxia Friedreich ataxia (FA) paraqet nj\u00eb s\u00ebmundje e rrall\u00eb e cila zakonisht e atakon [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":106813,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"","inline_featured_image":false},"categories":[1794],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/13-Friedreichs-ataxia-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/13-Friedreichs-ataxia-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"3781","source":"\u0421\u043a\u043e\u043f\u0458\u0435, (\u0421\u0410\u041a\u0410\u041c\u0414\u0410\u041a\u0410\u0416\u0410\u041c.\u041c\u041a)","yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v15.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: FRIEDREICH ATAXIA - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c<\/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:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-friedreich-ataxia\/\" \/>\n<meta property=\"og:locale\" content=\"mk_MK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: FRIEDREICH ATAXIA - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Friedreich ataxia KNS G 11.1 Friedreich ataxia Friedreich ataxia (FA) paraqet nj\u00eb s\u00ebmundje e rrall\u00eb e cila zakonisht e atakon [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-friedreich-ataxia\/\" \/>\n<meta property=\"og:site_name\" content=\"\u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"article:published_time\" content=\"2020-02-13T12:26:54+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2020-02-16T07:43:47+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/13-Friedreichs-ataxia.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1920\" \/>\n\t<meta property=\"og:image:height\" content=\"1080\" \/>\n<meta property=\"fb:app_id\" content=\"2407985809428537\" \/>\n<meta name=\"twitter:card\" content=\"summary\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebSite\",\"@id\":\"https:\/\/sdk.mk\/#website\",\"url\":\"https:\/\/sdk.mk\/\",\"name\":\"\\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"description\":\"\\u0417\\u0430 \\u0441\\u043b\\u043e\\u0431\\u043e\\u0434\\u043e\\u0443\\u043c\\u043d\\u0438\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":\"https:\/\/sdk.mk\/?s={search_term_string}\",\"query-input\":\"required name=search_term_string\"}],\"inLanguage\":\"mk-MK\"},{\"@type\":\"ImageObject\",\"@id\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-friedreich-ataxia\/#primaryimage\",\"inLanguage\":\"mk-MK\",\"url\":\"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/13-Friedreichs-ataxia.png\",\"width\":1920,\"height\":1080},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-friedreich-ataxia\/#webpage\",\"url\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-friedreich-ataxia\/\",\"name\":\"JU NJOFTOJM\\u00cb ME S\\u00cbMUNDJET E RRALLA: FRIEDREICH ATAXIA - \\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"isPartOf\":{\"@id\":\"https:\/\/sdk.mk\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-friedreich-ataxia\/#primaryimage\"},\"datePublished\":\"2020-02-13T12:26:54+00:00\",\"dateModified\":\"2020-02-16T07:43:47+00:00\",\"author\":{\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/864d4cb4c82a45f771023b00a4aa5176\"},\"inLanguage\":\"mk-MK\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-friedreich-ataxia\/\"]}]},{\"@type\":\"Person\",\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/864d4cb4c82a45f771023b00a4aa5176\",\"name\":\"Biljana Nestoroska\"}]}<\/script>\n<!-- \/ Yoast SEO Premium plugin. -->","_links":{"self":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/106815"}],"collection":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/users\/24"}],"replies":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/comments?post=106815"}],"version-history":[{"count":0,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/106815\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media\/106813"}],"wp:attachment":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media?parent=106815"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/categories?post=106815"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/tags?post=106815"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}