{"id":138701,"date":"2021-02-10T08:30:18","date_gmt":"2021-02-10T07:30:18","guid":{"rendered":"https:\/\/sdk.mk\/?p=138701"},"modified":"2021-02-10T08:33:44","modified_gmt":"2021-02-10T07:33:44","slug":"ju-njoftojme-me-semundjet-e-rralla-distrofia-muskulare-kongjenitale-me-deficit-te-merozines","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-distrofia-muskulare-kongjenitale-me-deficit-te-merozines\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: DISTROFIA MUSKULARE KONGJENITALE-ME DEFICIT T\u00cb MEROZIN\u00cbS"},"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=czCAP1qOytk&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=10\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Merosin-deficient congenital muscular dystrophy<\/strong><\/em><\/a><br \/>\nDistrofia muskulare kongjenitale-me deficit t\u00eb merozin\u00ebs<br \/>\nICD G 71.0<br \/>\nPrevalenca: 1\/100.000<\/p>\n<p>Distrofia muskulare kongjenitale paraqet nj\u00eb \u00e7rregullim gjenetik neuromuskular heterogjen q\u00eb shfaqet gjat\u00eb lindjes ose m\u00eb pas i cili kap muskujt, duke i dob\u00ebsuar ato dhe me kalimin e koh\u00ebs, ata atrofojn\u00eb.<br \/>\nDistofia muskulare kongjenitale &#8211; me deficit t\u00eb merozin\u00ebs ose CMD1A, \u00ebsht\u00eb nj\u00eb nga format m\u00eb t\u00eb shpeshta t\u00eb distrofis\u00eb muskulare kongjenitale. E shkaktuar nga nj\u00eb mutacion i rrall\u00eb gjenetik n\u00eb gjenin Lama alfa 2 p\u00ebrgjegj\u00ebs p\u00ebr protein\u00ebn merozin\u00eb q\u00eb mb\u00ebshtjell fibr\u00ebn muskulore, paraqet nj\u00eb form\u00eb e r\u00ebnd\u00eb e distrofis\u00eb q\u00eb karakterizohet nga hipotonia e r\u00ebnd\u00eb e muskujve \u2013 tonus i ul\u00ebt i muskujve gjat\u00eb lindjes ose menj\u00ebher\u00eb pas lindjes, dob\u00ebsi progresive e muskujve dhe atrofi, funksione motorike t\u00eb vonuara me paaft\u00ebsi p\u00ebr t\u00eb q\u00ebndruar n\u00eb k\u00ebmb\u00eb dhe p\u00ebr t\u00eb ecur, kontraktura t\u00eb nyjeve, ineteligjenc\u00eb normale edhe pse n\u00eb disa raste ekziston n\u00eb retardim mendor i leht\u00eb dhe epilepsi.<br \/>\nPrevalenca e s\u00ebmundjes:<br \/>\nCMD1A prek nj\u00eblloj meshkujt dhe femrat. Incidenca e sakt\u00eb e CMD1A nuk dihet p\u00ebr shkak t\u00eb pamund\u00ebsis\u00eb p\u00ebr konfirmim gjenetik n\u00eb t\u00eb kaluar\u00ebn, por shum\u00eb studime tregojn\u00eb q\u00eb nj\u00eb n\u00eb 100 mij\u00eb foshnje \u00ebsht\u00eb e s\u00ebmur\u00eb nga CMD1A. N\u00eb Maqedonin\u00eb e Veriut nga njohurit\u00eb e deritanishme, me k\u00ebt\u00eb s\u00ebmundje ka lindur vet\u00ebm nj\u00eb foshnje.<br \/>\nHistoria dhe terminologjia:<br \/>\nDistrofia kongjenitale muskulare u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb n\u00eb vitin 1903 nga Frederik Eustas Baten si &#8220;miopati infantile&#8221;, dhe me studime m\u00eb t\u00eb holl\u00ebsishme histologjike n\u00eb fund t\u00eb viteve 1960, z\u00ebvend\u00ebsohet me termin aktual &#8220;kongjenitale&#8221;. Por zbulimet p\u00ebr k\u00ebt\u00eb s\u00ebmundje ishin relativisht t\u00eb ngadalta deri n\u00eb vitin 1990. Me arritjet e m\u00ebdha biokimike dhe molekulare, n\u00eb vitin 1995 u identifikuan mutacionet e para gjenetike q\u00eb \u00e7uan n\u00eb zbulimin e nj\u00eb mungese t\u00eb plot\u00eb t\u00eb protein\u00ebs merozin\u00eb. Bazuar n\u00eb gjetjet gjenetike, distrofia muskulare kongjenitale ndahet n\u00eb forma t\u00eb ndryshme sipas mutacionit gjenetik dhe munges\u00ebs s\u00eb proteinave, k\u00ebshtu q\u00eb distrofia muskulare kongjenitale me deficit t\u00eb merozin\u00ebs (CMD1A) em\u00ebrohet sipas munges\u00ebs s\u00eb protein\u00ebs merozin\u00eb.<br \/>\nShkaku p\u00ebr shfaqjen e s\u00ebmundjes:<br \/>\nCMD1A trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale recisive, q\u00eb do t\u00eb thot\u00eb se duhet t\u00eb ekzistojn\u00eb dy mutacione patogjene q\u00eb t\u00eb shfaqet s\u00ebmundja. N\u00eb k\u00ebt\u00eb s\u00ebmundje t\u00eb rrall\u00eb ekzistojn\u00eb dy mutacione n\u00eb gjenin LAMA2 (laminin alfa 2, i vendosur n\u00eb 6 q 22-23 i cili ka 64 ekzone) i cili prodhon protein\u00ebn merozin\u00eb, nj\u00eb nga proteinat e laminin\u00ebs e cila \u00ebsht\u00eb pjes\u00eb p\u00ebrb\u00ebr\u00ebse e muskujve skeletor\u00eb dhe nervave periferik\u00eb si pjes\u00eb e membran\u00ebs s\u00eb qeliz\u00ebs muskulore. Ajo ndikon n\u00eb stabilitetin e qeliz\u00ebs muskulore dhe fibrave muskulore dhe ndihmon n\u00eb lidhjen e proteinave tjera n\u00eb membran\u00ebn e qeliz\u00ebs. K\u00ebto mutacione trash\u00ebgohen nga t\u00eb dy prind\u00ebrit ose mund t\u00eb ndodhin spontanisht. Q\u00eb nj\u00eb f\u00ebmij\u00eb t\u00eb shfaq s\u00ebmundjen CMD1A, t\u00eb dy prind\u00ebrit duhet ta bartin t\u00eb nj\u00ebjtin mutacion n\u00eb gjenin LAMA-2, dhe t\u00eb dy ta kalojn\u00eb mutacionin tek f\u00ebmija i tyre. F\u00ebmija trash\u00ebgon dy gjene LAMA-2 me mutacion, nj\u00eb nga n\u00ebna dhe nj\u00eb nga babai. \u00c7donj\u00ebri prind i nj\u00eb f\u00ebmije me CMD1A ka nj\u00eb kopje t\u00eb gjenit LAMA-2 me mutacion dhe ai \u00ebsht\u00eb bart\u00ebs, por nuk tregon shenja t\u00eb s\u00ebmundjes. Prind\u00ebrit bart\u00ebs kan\u00eb 25% gjasa t\u00eb lindin f\u00ebmij\u00eb t\u00eb s\u00ebmur\u00eb nga CMD1A, 50% jan\u00eb gjasat q\u00eb f\u00ebmija q\u00eb do lind t\u00eb jet\u00eb bart\u00ebs i gjenit me mutacion dhe 25% jan\u00eb gjasat q\u00eb t\u00eb lind f\u00ebmij\u00eb q\u00eb nuk do jet\u00eb as bart\u00ebs e as i s\u00ebmur\u00eb.<br \/>\nPasqyra klinike:<br \/>\nFoshnjat me CMD1A t\u00eb quajtura &#8220;floppy baby&#8221; hetohen menji\u00ebher\u00eb pas lindjes nga pozicioni i tyre. Ata nuk i b\u00ebjn\u00eb l\u00ebvizjet si foshnjat e tjera p\u00ebr shkak t\u00eb hipotonis\u00eb s\u00eb thell\u00eb \u2013 tonus muskulor t\u00eb dob\u00ebt, e qar\u00eb e mekur, nuk shtr\u00ebngojn\u00eb me duart, nuk mund ta mbajn\u00eb kok\u00ebn, kan\u00eb rritje t\u00eb kreatinin kinaz\u00ebs n\u00eb serum, insufi\u00e7ienc\u00eb respiratore dhe nevoj\u00eb p\u00ebr ventilim t\u00eb asistuar. Pacient\u00ebt me k\u00ebt\u00eb s\u00ebmundje t\u00eb rrall\u00eb kan\u00eb dob\u00ebsi muskulore progresive, muskujt q\u00eb me kalimin e koh\u00ebs do t\u00eb b\u00ebhen m\u00eb t\u00eb dob\u00ebt dhe do t\u00eb atrofojn\u00eb, funksione motore t\u00eb vonuara, paaft\u00ebsi p\u00ebr t&#8217;u ulur\/ngritur dhe p\u00ebr t\u00eb ecur gj\u00eb q\u00eb i b\u00ebn t\u00eb varur nga karrocat, ata kan\u00eb kontraktuara t\u00eb lindura apo t\u00eb fituara t\u00eb cilat keq\u00ebsohen me kalimin e koh\u00ebs p\u00ebr shkak t\u00eb shkurtimit dhe trashjes s\u00eb indit dhe m\u00eb n\u00eb fund shkaktojn\u00eb deformime t\u00eb r\u00ebnda dhe kufizime n\u00eb l\u00ebvizje ashtu q\u00eb b\u00ebhet i domosdosg\u00ebm p\u00ebrdorimi i longetave dhe aparateve ortopedike, vertikalizatori dhe ushtrime t\u00eb p\u00ebrditshme me fizioterapist dhe hidroterapi.<br \/>\n(radio jingle I njohim s\u00ebmundjet e rralla)<br \/>\nDob\u00ebsimi i muskujve \u00e7on gjer te d\u00ebmtimi i shtyll\u00ebs kurrizore dhe zhvillimi i skolioz\u00ebs progresive p\u00ebr t\u00eb cil\u00ebn m\u00eb von\u00eb nevojitet operacion. Pesha trupore e k\u00ebtyre pacient\u00ebve \u00ebsht\u00eb mjaft e ul\u00ebt. Me kalimin e koh\u00ebs, dob\u00ebsohen edhe muskujt e frym\u00ebmarrjes, duke rezultuar n\u00eb infeksione pulmonare, ulje t\u00eb oksigjenit n\u00eb gjak, v\u00ebshtir\u00ebsi n\u00eb frym\u00ebmarrje gjat\u00eb nat\u00ebs, dhe nevoj\u00eb p\u00ebr aparate ventilimi. Probleme t\u00eb q\u00ebndrueshme paraqiten edhe gjat\u00eb ushqyerjes, e cila k\u00ebrkon vendosjen e nj\u00eb gastrostome. Pavar\u00ebsisht ndryshimeve n\u00eb mas\u00ebn e bardh\u00eb t\u00eb trurit, te k\u00ebta pacient\u00eb inteligjenca mendore \u00ebsht\u00eb normale, por ka nj\u00eb num\u00ebr t\u00eb vog\u00ebl t\u00eb pacient\u00ebve ku jan\u00eb raportuar v\u00ebshtir\u00ebsi gjat\u00eb m\u00ebsimit dhe sulme epileptike.<br \/>\nDiagnostikimi:<br \/>\nDiagnoza e CMD1A k\u00ebrkon nj\u00eb ekspertiz\u00eb multidisiplinare (neurologji, morfologji, gjenetik\u00eb, neuroradiologji), t\u00eb disponueshme n\u00eb disa qendra n\u00eb t\u00eb gjith\u00eb bot\u00ebn q\u00eb kan\u00eb p\u00ebrvoj\u00eb t\u00eb mjaftueshme me forma t\u00eb ndryshme t\u00eb CMD. Pas diagnostikimit t\u00eb hipotonis\u00eb, mjek\u00ebt s\u00eb pari kryejn\u00eb teste speciale t\u00eb p\u00ebr\u00e7ueshm\u00ebris\u00eb nervore dhe elektromiografi (EMG) t\u00eb cilat p\u00ebrdoren p\u00ebr t\u00eb stimuluar dhe vler\u00ebsuar muskujt ose nervat dhe t\u00eb qart\u00ebsohet situata me hipotonin\u00eb.<br \/>\nN\u00eb faz\u00ebn e hershme t\u00eb procesit diagnostikues, mjek\u00ebt patjet\u00ebr rekomandojn\u00eb test t\u00eb kreatinin kinaz\u00ebs n\u00eb seurum (CK) e cila \u00ebsht\u00eb nj\u00eb enzim\u00eb q\u00eb rrjedh nga muskujt e d\u00ebmtuar. Nivelet e rritura t\u00eb CK flasin p\u00ebr nj\u00eb proces jonormal, si\u00e7 \u00ebsht\u00eb distrofia muskulare ose inflamacioni. Pastaj pason biopsia muskulare nga mostra b\u00ebhen teste komplekse gjenetike me t\u00eb cilat do t\u00eb konfirmohet forma e sakt\u00eb e distrofis\u00eb dhe kodi i mutacionit n\u00eb gjenin LAMA -2. Me konfirmimin e mutacionit, familja do t\u00eb ket\u00eb mund\u00ebsi t\u00eb b\u00ebj\u00eb teste t\u00eb m\u00ebtutjeshme antenatale p\u00ebr shtatz\u00ebnit\u00eb e ardhshme q\u00eb t\u00eb parandalohet n\u00eb t\u00eb njejt\u00ebn familje t\u00eb lind edhe nj\u00eb f\u00ebmij\u00eb me t\u00eb njejt\u00ebn s\u00ebmundje.<br \/>\nTrajtimi:<br \/>\nAkoma nuk \u00ebsht\u00eb gjetur sh\u00ebrim ose terapi p\u00ebr k\u00ebt\u00eb s\u00ebmundje t\u00eb rrall\u00eb. N\u00eb vitin 2008 Omigapil nga Santhera fitoi miratimin si medikament p\u00ebr CMD 1A dhe e kaloi faz\u00ebn e par\u00eb dhe hulumtimi vazhdon. Ende \u00ebsht\u00eb duke u hulumtuar trajtimi me Laminin -111 i cili deri tani ka treguar ngadal\u00ebsim t\u00eb dob\u00ebsis\u00eb muskulore progresive te modeli i miut. Nga furnizimi i t\u00eb gjitha aparateve t\u00eb duhura, pajisjeve ndihm\u00ebse dhe nga fizioterapia dhe hidroterapia kualitative, do t\u00eb varet kualiteti dhe jet\u00ebgjat\u00ebsia e k\u00ebtyre pacient\u00ebve p\u00ebr t\u00eb cil\u00ebt dihet se jetojn\u00eb m\u00eb shkurt.<\/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>Merosin-deficient congenital muscular dystrophy Distrofia muskulare kongjenitale-me deficit t\u00eb merozin\u00ebs ICD G 71.0 Prevalenca: 1\/100.000 Distrofia muskulare kongjenitale paraqet nj\u00eb [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":138699,"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\/10-Kongenitalna-Muskulna-Distrofija-Merozin-negativna-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/10-Kongenitalna-Muskulna-Distrofija-Merozin-negativna-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"920","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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