{"id":138305,"date":"2021-02-05T11:21:51","date_gmt":"2021-02-05T10:21:51","guid":{"rendered":"https:\/\/sdk.mk\/?p=138305"},"modified":"2021-02-05T11:27:12","modified_gmt":"2021-02-05T10:27:12","slug":"ju-njoftojme-me-semundjet-e-rralla-distrofia-muskulare-becker","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-distrofia-muskulare-becker\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: DISTROFIA MUSKULARE BECKER"},"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><em><strong><a href=\"https:\/\/www.youtube.com\/watch?v=qBSPm2Nee9k&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=5\" target=\"_blank\" rel=\"noopener noreferrer\">Becker muscular dystrophy &#8211; Distrofia muskulare Becker<\/a><\/strong><\/em><br \/>\nICD G71.0<br \/>\nPrevalenca: 1-9\/100.000<\/p>\n<p>Distrofit\u00eb muskulare (dob\u00ebsim dhe atrofim muskujsh), jan\u00eb grup s\u00ebmundjesh gjenetike q\u00eb karakterizohen nga dob\u00ebsia progresive dhe degjenerimi i muskujve. Muskujt e kapur b\u00ebhen m\u00eb t\u00eb dob\u00ebt me kalimin e koh\u00ebs. Ekzistojn\u00eb lloje t\u00eb ndryshme t\u00eb distrofive muskulare. Distrofia muskulare Becker (DMB) \u00ebsht\u00eb s\u00ebmundje neuromuskulare tek e cila muskujt dob\u00ebsohen dhe degjenerohen n\u00eb m\u00ebnyr\u00eb progresive. T\u00eb p\u00ebrfshir\u00eb jan\u00eb muskujt e skeletit, muskujt e l\u00ebmuar dhe muskuli i zemr\u00ebs. DMB prek kryesisht meshkujt me shpesht\u00ebsi nga 1 n\u00eb 18 mij\u00eb gjer nj\u00eb n\u00eb 31 mij\u00eb lindje meshkujsh. N\u00eb p\u00ebrgjith\u00ebsi, grat\u00eb nuk shfaqin shenja t\u00eb s\u00ebmundjes, por te nj\u00eb num\u00ebr i vog\u00ebl i grave q\u00eb jan\u00eb bart\u00ebse t\u00eb s\u00ebmundjes, mund t\u00eb manifestohen forma m\u00eb t\u00eb lehta t\u00eb s\u00ebmundjes.<\/p>\n<p>Shkaku dhe trash\u00ebgimi i s\u00ebmundjes:<br \/>\nN\u00eb thelbin e s\u00ebmundjes Distrofia muskulare Becker \u00ebsht\u00eb proteina distrofin. P\u00ebr shkak t\u00eb delecionit, mutacionit ose duplikimit t\u00eb gjenit DMD (kormozomi Xp21.2) n\u00eb organiz\u00ebm sekretohet protein\u00eb jofunksionale. Qindra gjene jan\u00eb t\u00eb ky\u00e7ura n\u00eb sekretimin e proteinave q\u00eb i mbrojn\u00eb fijet e muskujve nga d\u00ebmtimi, kurse distrofia muskulare shfaqet kur nj\u00eb nga k\u00ebta gjene ka p\u00ebsuar ndryshime. \u00c7do lloj i distrofis\u00eb \u00ebsht\u00eb i shkaktuar nga ndryshim gjenetik i cili \u00ebsht\u00eb specifik p\u00ebr at\u00eb lloj distrofie. Shum\u00eb nga k\u00ebto ndryshime \u2013 mutacione jan\u00eb trash\u00ebguese, por disa ndodhin edhe n\u00eb m\u00ebnyr\u00eb spontane. \u00c7do grua q\u00eb n\u00eb familjen s\u00eb saj ka ose ka pasur t\u00eb s\u00ebmur\u00eb nga distrofia duhet t\u00eb b\u00ebj\u00eb konsult\u00eb me gjenetist para se t\u00eb lind f\u00ebmij\u00eb. S\u00ebmundja trash\u00ebgohet n\u00eb form\u00eb X recisive, t\u00eb gjitha vajzat e burrit t\u00eb s\u00ebmur\u00eb do t\u00eb jen\u00eb bart\u00ebse t\u00eb s\u00ebmundjes. Diagnostikimi antenatal rekomandohet te gruaja q\u00eb \u00ebsht\u00eb bart\u00ebse e gjenit patogjenik \u2013 ai i cili e shkakton s\u00ebmundjen. N\u00ebse foshnja \u00ebsht\u00eb mashkull, at\u00ebher\u00eb gjasat p\u00ebr ta pasur s\u00ebmundjen jan\u00eb 50%. Biopsia e vileve koriale mund t\u00eb b\u00ebhet nga java 11 gjer n\u00eb jav\u00ebn e 14 t\u00eb shtatzanis\u00eb, amniocenteza mund t\u00eb b\u00ebhet n\u00eb jav\u00eb e 15 kurse kordocenteza pas jav\u00ebs s\u00eb 18.<\/p>\n<p>S\u00ebmundja zakonisht fillon n\u00eb mosh\u00ebn 5 gjjer 15 vje\u00e7 por ndonj\u00ebher\u00eb mund t\u00eb shfaqet edhe m\u00eb her\u00ebt, n\u00eb pes\u00eb vitet e para ose t\u00eb shfaqet shum\u00eb von\u00eb n\u00eb mosh\u00ebn 25 vje\u00e7. Shenjat fillestare t\u00eb s\u00ebmundjes jan\u00eb lodhja e tep\u00ebrt dhe dob\u00ebsia e muskujve t\u00eb legenit dhe gjymtyr\u00ebt e poshtme. Te disa pacient\u00eb, manifestimet e para jan\u00eb spazmat muskulore n\u00eb k\u00ebmb\u00eb. Dob\u00ebsia e muskujve shkakton v\u00ebshtir\u00ebsi n\u00eb ngjitjen e shkall\u00ebve dhe n\u00eb ngritjen nga nj\u00eb pozicion ulur. Me kalimin e koh\u00ebs, formohet e ashtuquajtura &#8220;ecja e pat\u00ebs&#8221;. P\u00ebr tu ngritur n\u00eb k\u00ebmb\u00eb, pacienti detyrohet t\u00eb p\u00ebrdor teknika ndihm\u00ebse &#8211; t\u00eb mb\u00ebshtetet me duart e tij n\u00eb mobiljet q\u00eb i ka pran\u00eb dhe k\u00ebshtu me radh\u00eb. Ashtu si miopatit\u00eb e tjera t\u00eb trash\u00ebguara (s\u00ebmundjet e muskujve), s\u00ebmundja Becker karakterizohet nga zhvillimi simetrik i atrofis\u00eb s\u00eb muskujve. Fillimisht p\u00ebrfshihen muskujt e vitheve dhe legenit, pastaj procesi shtrihet n\u00eb muskujt e shpatullave dhe muskujt e krahut. Pacient\u00ebt gjithashtu zhvillojn\u00eb kardiomiopati, por shum\u00eb rrall\u00eb kan\u00eb probleme me sh\u00ebndetin mendor. Ekzaminimi klinik zbulon pseudohipertrofin\u00eb, por mund t\u00eb shihet edhe atrofia e muskujve proksimal si\u00e7 \u00ebsht\u00eb kuadricepsi. Ekziston dob\u00ebsi muskulore simetrike dhe proksimale, gjymtyr\u00ebt e poshtme jan\u00eb m\u00eb t\u00eb prekura se gjymtyr\u00ebt e sip\u00ebrme. S\u00ebmundja progredon ngadal\u00eb, k\u00ebshtu q\u00eb me kalimin e koh\u00ebs pacient\u00ebt do t\u00eb ken\u00eb nevoj\u00eb p\u00ebr nj\u00eb karroc\u00eb invalid\u00ebsh dhe mund t\u00eb vij\u00eb gjer tek insuficienca respiratore si pasoj\u00eb e dob\u00ebsimit t\u00eb diafragm\u00ebs dhe muskujve interkostal.<\/p>\n<p>Diagnostikimi:<br \/>\nDiagnostikimi i s\u00ebmundjes b\u00ebhet n\u00eb baz\u00eb t\u00eb shenjave klinike, historis\u00eb familjare dhe ekzaminimeve laboratorike (niveli i kreatinin kinaz\u00ebs n\u00eb gjak \u00ebsht\u00eb dhjet\u00eb gjer nj\u00ebqind fishi i normales). Konfirmimi i diagnoz\u00ebs b\u00ebhet me biopsi t\u00eb muskulit ose testim i ADN- s\u00eb p\u00ebr mutacione n\u00eb DMD gjenin.<\/p>\n<p>Trajtimi:<br \/>\nTerapia \u00ebsht\u00eb simptomatike dhe parandaluese duke leht\u00ebsuar simptomat dhe duke penguar zhvillimin e komplikimeve. M\u00ebnyra kryesore e trajtimit n\u00eb faz\u00ebn e hershme t\u00eb s\u00ebmundjes \u00ebsht\u00eb aktiviteti i rregullt fizik dhe zgjatja pasive e muskujve t\u00eb kapur me q\u00ebllim t\u00eb pengohet kontraktura e nyjeve dhe k\u00ebshtu t\u00eb zgjatet periudha n\u00eb t\u00eb cil\u00ebn pacienti ende mund t\u00eb ec. N\u00ebse zhvillohet kontraktura e nyjeve, kirurgjia ortopedike mund t\u00eb ndihmoj\u00eb n\u00eb leht\u00ebsimin dhe p\u00ebrmir\u00ebsimin e funksionit t\u00eb nyjeve. Ortozat p\u00ebr k\u00ebmb\u00eb mund t\u00eb ndihmojn\u00eb n\u00eb q\u00ebndrim dhe n\u00eb ecje kur muskujt e k\u00ebmb\u00ebve dhe t\u00eb vitheve jan\u00eb aq t\u00eb dob\u00ebsuara sa q\u00eb pacienti nuk mund t\u00eb ec n\u00eb m\u00ebnyr\u00eb t\u00eb pavarur dhe pa aparate ortopedike. Personi i cili m\u00eb nuk mund t\u00eb q\u00ebndroj\u00eb n\u00eb k\u00ebmb\u00eb, duhet t\u00eb p\u00ebrdor karroc\u00eb invalid\u00ebsh. Monitorimi i funksionit t\u00eb zemr\u00ebs dhe atij respirator \u00ebsht\u00eb shum\u00eb i r\u00ebnd\u00ebsish\u00ebm k\u00ebta pacient\u00eb. N\u00eb shtrat duhet t\u00eb rrijn\u00eb n\u00eb pozit\u00eb t\u00eb ngritur q\u00eb t\u00eb parandalohet akulumi i ujit n\u00eb mushk\u00ebri. Kur muskujt respirator\u00eb dob\u00ebsohen p\u00ebrdoren aparate respiratore, dhe gjithashtu b\u00ebhet vaksinimi kund\u00ebr influenc\u00ebs dhe pneumokokut. Kardiomiopatia fillon t\u00eb trajtohet herr\u00ebt me ACE inkibitor\u00eb. N\u00ebse shfaqet skolioza, fiskues t\u00eb jasht\u00ebm mund t\u00eb implantohen p\u00ebr t\u00eb parandaluar p\u00ebrparimin ose mund t\u00eb jet\u00eb e nevojshme kirurgjia. Higjiena e rregullt dhe masat p\u00ebr parandalim e infeksioneve jan\u00eb tejet t\u00eb r\u00ebnd\u00ebsishme.<\/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>Becker muscular dystrophy &#8211; Distrofia muskulare Becker ICD G71.0 Prevalenca: 1-9\/100.000 Distrofit\u00eb muskulare (dob\u00ebsim dhe atrofim muskujsh), jan\u00eb grup s\u00ebmundjesh [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":138307,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[1794],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/05-Beker-muskulna-distrofija-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/05-Beker-muskulna-distrofija-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"15276","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: DISTROFIA MUSKULARE BECKER - \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-distrofia-muskulare-becker\/\" \/>\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: DISTROFIA MUSKULARE BECKER - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Becker muscular dystrophy &#8211; 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