{"id":165156,"date":"2022-02-02T09:08:46","date_gmt":"2022-02-02T08:08:46","guid":{"rendered":"https:\/\/sdk.mk\/?p=165156"},"modified":"2022-02-02T09:13:08","modified_gmt":"2022-02-02T08:13:08","slug":"ju-njoftojme-me-semundjet-e-rralla-hemiplegjia-alternuese-e-femijerise","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-hemiplegjia-alternuese-e-femijerise\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: HEMIPLEGJIA ALTERNUESE E F\u00cbMIJ\u00cbRIS\u00cb"},"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><strong>Hemiplegjia alternuese e f\u00ebmij\u00ebris\u00eb\/Alternating hemiplegia of childhood (AHC)<\/strong><\/p>\n<p>ICD: G 83.9<\/p>\n<p>Prevalenca: 1\/1.000.000<\/p>\n<p>Hemiplegjia alternuese q\u00eb shfaqet n\u00eb f\u00ebmij\u00ebri \u00ebsht\u00eb nj\u00eb \u00e7rregullim i rrall\u00eb neuro-zhvillimor q\u00eb karakterizohet nga episode t\u00eb p\u00ebrs\u00ebritura t\u00eb paraliz\u00ebs, t\u00eb cilat mund t\u00eb prekin nj\u00ebr\u00ebn an\u00eb t\u00eb trupit (hemiplegji) ose t\u00eb prekin t\u00eb gjitha pjes\u00ebt e trupit n\u00eb t\u00eb nj\u00ebjt\u00ebn koh\u00eb (kuadriplegji). Shenja shtes\u00eb jan\u00eb l\u00ebvizjet anormale t\u00eb syve, ng\u00ebr\u00e7et muskulore dhe n\u00eb disa raste kemi sulme epileptike. Pavar\u00ebsisht nga k\u00ebto simptoma, mund t\u00eb ket\u00eb edhe vonesa n\u00eb zhvillim krahasuar me moshatar\u00ebt, kognicion t\u00eb d\u00ebmtuar dhe probleme t\u00eb vazhdueshme t\u00eb ekuilibrit.<br \/>\nS\u00ebmundja prek t\u00eb dy gjinit\u00eb n\u00eb m\u00ebnyr\u00eb t\u00eb barabart\u00eb dhe haset n\u00eb nj\u00eb n\u00eb 1.000.000 lindje. Sidoqoft\u00eb, pasi rastet mund t\u00eb mos njihen menj\u00ebher\u00eb, frekuenca e paraqitjes mund t\u00eb ndryshoj\u00eb. Ashp\u00ebrsia e s\u00ebmundjes dhe llojet e episodeve t\u00eb paraliz\u00ebs ndryshojn\u00eb midis pacient\u00ebve. Simptomat e para zakonisht shfaqen rreth mosh\u00ebs 18 muajshe.<br \/>\nKy \u00e7rregullim ka qen\u00eb i pashpjeguesh\u00ebm p\u00ebr vite me radh\u00eb n\u00eb mesin e mjek\u00ebve, kryesisht p\u00ebr shkak t\u00eb rrall\u00ebsis\u00eb s\u00eb tij, si dhe p\u00ebr shkak t\u00eb simptomave komplekse dhe t\u00eb ndryshueshme. Nevojiten edhe shum\u00eb k\u00ebrkime p\u00ebr t\u00eb p\u00ebrmir\u00ebsuar diagnoz\u00ebn e hershme, p\u00ebr t\u00eb kuptuar gam\u00ebn e plot\u00eb t\u00eb simptomave dhe p\u00ebr t\u00eb p\u00ebrmir\u00ebsuar trajtimin dhe terapin\u00eb. Ekzistojn\u00eb 7 kritere p\u00ebr t\u00eb b\u00ebr\u00eb nj\u00eb diagnoz\u00eb, si\u00e7 jan\u00eb: 1) fillimi i simptomave para mosh\u00ebs 18 muajshe; 2) episode t\u00eb p\u00ebrs\u00ebritura t\u00eb hemiplegjis\u00eb, t\u00eb cilat nganj\u00ebher\u00eb p\u00ebrfshijn\u00eb t\u00eb dy an\u00ebt e trupit; 3) kuadriplegjia q\u00eb ndodh si nj\u00eb incident i izoluar ose si pjes\u00eb e nj\u00eb sulmi hemiplegik; 4) leht\u00ebsimi i simptomave pas gjumit; 5) kriza shtes\u00eb paroksizmale, t\u00eb tilla si distonia, kriza tonike (me ng\u00ebr\u00e7e muskulore) ose l\u00ebvizje anormale t\u00eb syve; 6) d\u00ebshmi e vones\u00ebs s\u00eb zhvillimit; 7) episodet nuk mund t\u00eb lidhen me ndonj\u00eb arsye tjet\u00ebr.<\/p>\n<p><strong>Shkaqet:<\/strong><br \/>\nT\u00eb pakt\u00ebn te 2\/3 e pacient\u00ebve, s\u00ebmundja shkaktohet nga nj\u00eb mutacion n\u00eb gjenin ATP1A3. Gjenet dihet q\u00eb mbajn\u00eb informacion n\u00eb lidhje me prodhimin e proteinave, t\u00eb cilat luajn\u00eb nj\u00eb rol t\u00eb r\u00ebnd\u00ebsish\u00ebm n\u00eb shumic\u00ebn e funksioneve n\u00eb trup. Kur ndodh nj\u00eb mutacion i till\u00eb i gjenit, proteina e prodhuar mund t\u00eb jet\u00eb e d\u00ebmtuar, e pamjaftueshme ose mungon krejt\u00ebsisht. N\u00eb var\u00ebsi t\u00eb funksioneve t\u00eb protein\u00ebs, mutacioni mund t\u00eb ndikoj\u00eb n\u00eb shum\u00eb sisteme, p\u00ebrfshir\u00eb trurin.<br \/>\nN\u00eb rastet kur nj\u00eb mutacion n\u00eb gjenin ATP1A3 \u00ebsht\u00eb shkaku i s\u00ebmundjes, hemiplegjia alternative ndodh pothuajse gjithmon\u00eb si nj\u00eb mutacion i ri, q\u00eb do t\u00eb thot\u00eb se n\u00eb pothuajse t\u00eb gjitha rastet, mutacioni i gjenit ndodh n\u00eb koh\u00ebn e formimit t\u00eb vez\u00ebs ose sperm\u00ebs, dhe q\u00eb asnj\u00eb an\u00ebtar i asaj familje nuk ka qen\u00eb i prekur m\u00eb par\u00eb. S\u00ebmundja zakonisht nuk trash\u00ebgohet nga nj\u00eb mutacion i &#8220;mbartur&#8221; nga nj\u00eb prind i sh\u00ebndetsh\u00ebm.<br \/>\nMegjithat\u00eb, forma dominante e trash\u00ebgimit (ku s\u00ebmundja transmetohet nga prindi i s\u00ebmur\u00eb tek f\u00ebmija) \u00ebsht\u00eb dokumentuar n\u00eb t\u00eb pakt\u00ebn nj\u00eb familje me nj\u00eb form\u00eb klasike t\u00eb s\u00ebmundjes.<\/p>\n<p><strong>Simptomat:<\/strong><br \/>\nKy lloj hemiplegjie ka nj\u00eb num\u00ebr simptomash t\u00eb ndryshme q\u00eb mund t\u00eb ndryshojn\u00eb midis pacient\u00ebve. Disa individ\u00eb mund t\u00eb ken\u00eb forma t\u00eb lehta t\u00eb s\u00ebmundjes me nj\u00eb prognoz\u00eb t\u00eb mir\u00eb dhe t\u00eb zhvillohen pothuajse normalisht. Megjithat\u00eb, t\u00eb tjer\u00ebt mund t\u00eb ken\u00eb nj\u00eb form\u00eb t\u00eb r\u00ebnd\u00eb me potencial p\u00ebr komplikime serioze dhe paaft\u00ebsuese, t\u00eb cilat mund t\u00eb ndikojn\u00eb n\u00eb aspekte t\u00eb ndryshme t\u00eb cil\u00ebsis\u00eb s\u00eb jet\u00ebs, duke u shfaqur me pasoja permanente neurologjike.<br \/>\nSimptoma m\u00eb e spikatur jan\u00eb episodet e p\u00ebrs\u00ebritura t\u00eb dob\u00ebsis\u00eb ose paraliz\u00ebs q\u00eb prekin nj\u00ebr\u00ebn an\u00eb t\u00eb trupit n\u00eb nj\u00eb m\u00ebnyr\u00eb alternuese (hemiplegji alternuese ose hemiparez\u00eb). Dob\u00ebsia ose paraliza gjithashtu ndonj\u00ebher\u00eb mund t\u00eb prek\u00eb t\u00eb dy an\u00ebt e trupit (kuadriplegji), ose ato mund t\u00eb p\u00ebrhapen shpejt nga nj\u00ebra an\u00eb n\u00eb tjetr\u00ebn. Episode t\u00eb tilla zgjasin nga disa minuta deri n\u00eb disa or\u00eb, por te disa f\u00ebmij\u00eb ato mund t\u00eb zgjasin me dit\u00eb ose edhe jav\u00eb. Ato mund t\u00eb ndodhin \u00e7do dit\u00eb ose \u00e7do jav\u00eb, por mund t\u00eb shfaqen edhe nj\u00eb her\u00eb n\u00eb disa muaj. Te disa pacient\u00eb, nj\u00ebra an\u00eb preket m\u00eb shum\u00eb se tjetra. N\u00eb rastet kur p\u00ebrfshihen t\u00eb dyja an\u00ebt, nj\u00ebra an\u00eb mund t\u00eb sh\u00ebrohet m\u00eb shpejt se tjetra. Ndonj\u00ebher\u00eb episodi shfaqet vet\u00ebm me dob\u00ebsi t\u00eb muskujve t\u00eb fytyr\u00ebs, me lakim t\u00eb goj\u00ebs dhe me nj\u00eb t\u00eb folur dhe g\u00eblltitje t\u00eb v\u00ebshtir\u00ebsuar.<br \/>\n\u201eNjihuni me s\u00ebmundjet e rralla&#8221;<br \/>\nIntensiteti i episodeve ndryshon dhe mund t\u00eb varioj\u00eb nga dridhja deri n\u00eb humbjen e plot\u00eb t\u00eb ndjesis\u00eb dhe aft\u00ebsin\u00eb p\u00ebr t\u00eb l\u00ebvizur. K\u00ebto simptoma shfaqen her\u00ebt n\u00eb foshnj\u00ebri dhe ndonj\u00ebher\u00eb mund t\u00eb shfaqen n\u00eb dit\u00ebt e para t\u00eb jet\u00ebs. Gjat\u00eb episodeve t\u00eb tilla, pacienti zakonisht mban vet\u00ebdijen dhe \u00ebsht\u00eb n\u00eb gjendje t\u00eb komunikoj\u00eb verbalisht. E vetmja gj\u00eb n\u00eb lidhje me k\u00ebto episode \u00ebsht\u00eb se ato t\u00ebrhiqen gjat\u00eb gjumit dhe mund t\u00eb mos shfaqen rreth 15-20 minuta para se t\u00eb ngrihen dhe t\u00eb fillojn\u00eb t\u00eb ecin. N\u00eb raste t\u00eb r\u00ebnda, t\u00eb zgjatura, kjo periudh\u00eb e lir\u00eb kohe, u lejon individ\u00ebve t\u00eb s\u00ebmur\u00eb t\u00eb han\u00eb ose pin\u00eb. Episodet mund t\u00eb p\u00ebrkeq\u00ebsohen me kalimin e koh\u00ebs, dhe n\u00eb forma t\u00eb r\u00ebnda ato mund ta b\u00ebjn\u00eb t\u00eb pamundshme l\u00ebvizjen e pavarur. Disa pacient\u00eb mund t\u00eb ndjehen t\u00eb lodhur ose t\u00eb plog\u00ebsht pak para se t\u00eb ndodh\u00eb nj\u00eb episod hemiplegik.<br \/>\nSimptoma shtes\u00eb neurologjike q\u00eb nuk jan\u00eb t\u00eb lidhura me shfaqjen e episodit hemiplegik mund t\u00eb hasen te disa pacient\u00eb, t\u00eb tilla si l\u00ebvizje t\u00eb pavullnetshme t\u00eb duarve, k\u00ebmb\u00ebve dhe muskujve t\u00eb fytyr\u00ebs (koreoatetoza), v\u00ebshtir\u00ebsi n\u00eb frym\u00ebmarrje dhe koordinim t\u00eb muskujve. Simptomat nga sistemi nervor autonom mund t\u00eb hasen gjithashtu gjat\u00eb episodeve hemiplegike, duke ndikuar n\u00eb rrahjet e zemr\u00ebs, presionin e gjakut, djersitjen dhe funksionimin e zorr\u00ebve dhe fshik\u00ebz\u00ebs.<\/p>\n<p><strong>Pasojat:<\/strong><br \/>\nVar\u00ebsisht nga forma e s\u00ebmundjes, disa nga pacient\u00ebt mund t\u00eb ken\u00eb forma t\u00eb lehta dhe t\u00eb ken\u00eb nj\u00eb prognoz\u00eb mjaft t\u00eb mir\u00eb, e cila lejon zhvillim pothuajse normal neurologjik dhe nj\u00eb cil\u00ebsi t\u00eb mir\u00eb t\u00eb jet\u00ebs. Nga ana tjet\u00ebr, pacient\u00ebt me forma m\u00eb t\u00eb r\u00ebnda p\u00ebrjetojn\u00eb episode dob\u00ebsie ose paralize q\u00eb parandalojn\u00eb funksionimin normal t\u00eb pavarur. Pacient\u00ebt mund t\u00eb ken\u00eb vonesa n\u00eb zhvillim krahasuar me moshatar\u00ebt e tyre dhe t\u00eb ken\u00eb regresion ose humbje t\u00eb aft\u00ebsive tashm\u00eb t\u00eb fituara. N\u00ebse shfaqen simptoma shtes\u00eb nga sistemi nervor autonom, ata mund t\u00eb p\u00ebrjetojn\u00eb djersitje t\u00eb tep\u00ebrt ose t\u00eb pakt\u00eb, ndryshime n\u00eb temperatur\u00ebn e trupit, ndryshime n\u00eb ngjyr\u00ebn e l\u00ebkur\u00ebs, perceptim t\u00eb d\u00ebmtuar t\u00eb dhimbjes dhe probleme me sistemin e tretjes. Nga nd\u00ebrlikimet kardio-pulmonare, pacienti mund t\u00eb p\u00ebrjetoj\u00eb bradikardi (puls t\u00eb ngadalt\u00eb), pastaj obstrukcion bronkial, stridor etj. Gjithashtu mund t\u00eb shfaqen probleme t\u00eb sjelljes, impulsivitet, nervoziz\u00ebm, p\u00ebrq\u00ebndrim t\u00eb dob\u00ebt dhe v\u00ebshtir\u00ebsi n\u00eb komunikim. Disa f\u00ebmij\u00eb mund t\u00eb ken\u00eb v\u00ebshtir\u00ebsi n\u00eb t\u00eb m\u00ebsuar dhe probleme me aktivitetet q\u00eb p\u00ebrfshijn\u00eb l\u00ebvizje dhe koordinim.<\/p>\n<p><strong>Trajtimi:<\/strong><br \/>\nNuk ka ndonj\u00eb terapi specifike p\u00ebr k\u00ebt\u00eb s\u00ebmundje. Trajtimi p\u00ebrqendrohet n\u00eb simptomat specifike q\u00eb jan\u00eb individuale dhe ndryshojn\u00eb nga pacienti n\u00eb pacient. Nevojitet nj\u00eb qasje multidisiplinare nga nj\u00eb ekip i pediat\u00ebrve, neurolog\u00ebve, okulist\u00ebve dhe specialiteteve t\u00eb tjera, n\u00eb var\u00ebsi t\u00eb simptomatologjis\u00eb.<br \/>\nTrajtimi n\u00eb p\u00ebrgjith\u00ebsi ka p\u00ebr q\u00ebllim zvog\u00eblimin e frekuenc\u00ebs dhe ashp\u00ebrsis\u00eb s\u00eb episodeve dhe menaxhimin e vet\u00eb episodeve kur ato ndodhin. Faktor\u00ebt e rrezikut p\u00ebr k\u00ebto episode jan\u00eb: stresi, eksitimi, drita e ndritshme, ekspozimi ndaj temperaturave shum\u00eb t\u00eb ul\u00ebta ose shum\u00eb t\u00eb larta, ekspozimi ndaj ujit (larja, noti), disa ushqime ose aroma (\u00e7okollata, vaktet e humbura dhe uria), sforcimi fizik, ftohjet dhe \u00e7rregullime t\u00eb gjumit, k\u00ebshtu q\u00eb vet\u00eb terapia n\u00eb thelb p\u00ebrqendrohet n\u00eb shmangien dhe eliminimin e vet\u00eb faktor\u00ebve nxit\u00ebs.<br \/>\nNj\u00eb nga ila\u00e7et q\u00eb \u00ebsht\u00eb miratuar p\u00ebr t\u00eb ulur frekuenc\u00ebn e krizave \u00ebsht\u00eb Flunarizine, nj\u00eb ila\u00e7 q\u00eb bllokon kanalet e kalciumit. N\u00eb disa raste kur pacienti ka edhe epilepsi, jepen edhe antiepileptik\u00eb. P\u00ebrdoren gjithashtu barna q\u00eb shkaktojn\u00eb gjumin (Melatonin, Midazolam, Diazepam rektal). Pacient\u00ebt me hemiplegji alternuese mund t\u00eb p\u00ebrfitojn\u00eb gjithashtu nga edukimi special, fizioterapia dhe k\u00ebshillimi gjenetik p\u00ebr pacient\u00ebt dhe familjet e tyre.<\/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>Hemiplegjia alternuese e f\u00ebmij\u00ebris\u00eb\/Alternating hemiplegia of childhood (AHC) ICD: G 83.9 Prevalenca: 1\/1.000.000 Hemiplegjia alternuese q\u00eb shfaqet n\u00eb f\u00ebmij\u00ebri \u00ebsht\u00eb [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":165178,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[56805],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/02-Alternating-hemiplegia-of-childhood-AHC-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/02-Alternating-hemiplegia-of-childhood-AHC-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"407","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 - 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