{"id":166965,"date":"2022-02-26T10:26:37","date_gmt":"2022-02-26T09:26:37","guid":{"rendered":"https:\/\/sdk.mk\/?p=166965"},"modified":"2022-02-26T10:26:37","modified_gmt":"2022-02-26T09:26:37","slug":"ju-njoftojme-me-semundjet-e-rralla-distrofia-muskulare-miotonike-e-tipit-i-dhe-ii","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-distrofia-muskulare-miotonike-e-tipit-i-dhe-ii\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: DISTROFIA MUSKULARE MIOTONIKE E TIPIT I DHE II"},"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>Distrofia muskulare miotonike e tipit I dhe II\/Myotonic dystrophy type I and type II<\/strong><\/em><\/p>\n<p>ICD: G 71.1<\/p>\n<p>Prevalenca: 10\/100.000<\/p>\n<p>Distrofia muskulare miotonike (DM) \u00ebsht\u00eb nj\u00eb s\u00ebmundje e trash\u00ebguar q\u00eb prek muskujt e trupit dhe i p\u00ebrket nj\u00eb grupi \u00e7rregullimesh gjenetike t\u00eb quajtura distrofi muskulare q\u00eb shkaktojn\u00eb d\u00ebmtime dhe dob\u00ebsi progresive t\u00eb muskujve. Nj\u00eb fenomen karakteristik i distrofis\u00eb miotonike \u00ebsht\u00eb miotonia dhe \u00ebsht\u00eb nj\u00eb tipar tipik i muskujve t\u00eb s\u00ebmur\u00eb q\u00eb nuk mund t\u00eb relaksohen pas tkurrjes.<\/p>\n<p><strong>Shkaqet e s\u00ebmundjes:<\/strong><\/p>\n<p>Distrofia miotonike (DM) \u00ebsht\u00eb nj\u00eb s\u00ebmundje e trash\u00ebguar q\u00eb \u00ebsht\u00eb rezultat i nj\u00eb mutacioni gjenetik autosomal dominant dhe trash\u00ebgohet sipas t\u00eb nj\u00ebjtit model, q\u00eb do t\u00eb thot\u00eb se \u00e7do f\u00ebmij\u00eb i individit t\u00eb prekur ka nj\u00eb shans 50% p\u00ebr t\u00eb trash\u00ebguar s\u00ebmundjen. T\u00eb dy tipet shkaktohen nga nj\u00eb mutacion i ndrysh\u00ebm gjenetik dhe rezulton n\u00eb funksion t\u00eb d\u00ebmtuar t\u00eb muskujve. DM tip 1 shkaktohet nga nj\u00eb defekt i protein\u00ebs e cila ndihmon muskujt e skeletit dhe t\u00eb zemr\u00ebs t\u00eb funksionojn\u00eb n\u00eb m\u00ebnyr\u00eb efikase. Gjeni i prekur quhet miotonin protein kinaza dhe ndodhet n\u00eb kromozomin 19. DM tip 2 shkaktohet nga defekti n\u00eb nj\u00eb protein\u00eb muskulore t\u00eb quajtur proteina lidh\u00ebse e acidit nukleik, e cila ndodhet n\u00eb kromozomin e tret\u00eb. Kjo protein\u00eb \u00ebsht\u00eb e pranishme n\u00eb t\u00eb gjith\u00eb trupin por m\u00eb e zakonshme \u00ebsht\u00eb n\u00eb muskujt skeletor\u00eb dhe t\u00eb zemr\u00ebs. Ashtu si DM tip 1 edhe DM tip 2 gjithashtu \u00ebsht\u00eb nj\u00eb s\u00ebmundje autosomale dominante. Defekti gjenetik i DM 1 shoq\u00ebrohet me nj\u00eb fenomen t\u00eb quajtur anticipim, q\u00eb n\u00ebnkupton fillimin m\u00eb t\u00eb hersh\u00ebm t\u00eb simptomave n\u00eb \u00e7do brez pasues n\u00eb familje.<\/p>\n<p><strong>Simptomat:<\/strong><\/p>\n<p>Simptomat e distrofis\u00eb miotonike ndryshojn\u00eb shum\u00eb nga pacienti n\u00eb pacient. N\u00eb form\u00ebn m\u00eb t\u00eb r\u00ebnd\u00eb, foshnjat me DM mund t\u00eb ken\u00eb dob\u00ebsi t\u00eb theksuar t\u00eb muskujve t\u00eb gjymtyr\u00ebve, si dhe dob\u00ebsi t\u00eb muskujve t\u00eb frym\u00ebmarrjes e ndjekur me gul\u00e7im menj\u00ebher\u00eb pas lindjes.<\/p>\n<p><strong>Distrofia miotonike tip 1:<\/strong><\/p>\n<p>DM tip 1 zakonisht fillon gjat\u00eb f\u00ebmij\u00ebris\u00eb, por mund t\u00eb filloj\u00eb n\u00eb \u00e7do moment n\u00eb jet\u00ebn e nj\u00eb personi. P\u00ebrshkruhen forma kongjenitale, forma juvnile, forma adulte, n\u00eb var\u00ebsi t\u00eb mosh\u00ebs n\u00eb t\u00eb cil\u00ebn fillojn\u00eb simptomat. N\u00eb DM, disa muskuj jan\u00eb m\u00eb t\u00eb prekur se t\u00eb tjer\u00ebt. Por miotonia dhe dob\u00ebsia e muskujve kan\u00eb prirje t\u00eb p\u00ebrkeq\u00ebsohen me kalimin e viteve. Muskujt e fytyr\u00ebs jan\u00eb shpesh nd\u00ebr t\u00eb par\u00ebt q\u00eb preken dhe tek ata shfaqet dob\u00ebsi, duke rezultuar n\u00eb munges\u00eb t\u00eb shprehjes s\u00eb fytyr\u00ebs apo pamjes s\u00eb fytyr\u00ebs.<\/p>\n<p>Personat me DM mund t\u00eb ken\u00eb t\u00eb folur t\u00eb paqart\u00eb (dizartri) dhe qepall\u00eb t\u00eb r\u00ebna p\u00ebr shkak t\u00eb muskujve t\u00eb dob\u00ebt t\u00eb fytyr\u00ebs. Kjo pamje karakteristike shpeshher\u00eb shoq\u00ebrohet me nj\u00eb fytyr\u00eb t\u00eb ngusht\u00eb, nj\u00eb nofull e shtremb\u00ebr, nj\u00eb goj\u00eb trek\u00ebndore dhe nj\u00eb tullaci e theksuar ballore. Muskujt e pjes\u00ebve t\u00eb poshtme t\u00eb k\u00ebmb\u00ebve, si dhe parakrah\u00ebt, jan\u00eb zakonisht grupi i ardhsh\u00ebm i muskujve q\u00eb tregojn\u00eb dob\u00ebsi. Kjo \u00e7on n\u00eb v\u00ebshtir\u00ebsi n\u00eb ecje dhe l\u00ebvizje t\u00eb gishtave dhe duarve. Muskujt e p\u00ebrfshir\u00eb n\u00eb frym\u00ebmarrje dhe g\u00eblltitje mund t\u00eb dob\u00ebsohen.<\/p>\n<p>\u041cegjithat\u00eb, shkalla n\u00eb t\u00eb cil\u00ebn dob\u00ebsia dhe miotonia ndikojn\u00eb n\u00eb aft\u00ebsin\u00eb e nj\u00eb personi p\u00ebr t\u00eb funksionuar \u00ebsht\u00eb e ndryshueshme dhe e paparashikueshme.<\/p>\n<p><strong>Distrofia kongjenitale miotonike:<\/strong><\/p>\n<p>Forma kongjenitale \u00ebsht\u00eb forma m\u00eb e r\u00ebnd\u00eb e distrofis\u00eb miotonike. Simptomat n\u00eb fakt mund t\u00eb zbulohen para lindjes me an\u00eb t\u00eb ultraz\u00ebrit. Pas lindjes, foshnjat me DM kongjenitale shpesh kan\u00eb dob\u00ebsi t\u00eb shprehur t\u00eb muskujve, hipotoni dhe v\u00ebshtir\u00ebsi n\u00eb frym\u00ebmarrje dhe mund t\u00eb mos e mbijetojn\u00eb f\u00ebmij\u00ebrin\u00eb. Rreth gjysma e t\u00eb gjith\u00eb f\u00ebmij\u00ebve me form\u00ebn kongjenitale kan\u00eb nj\u00eb shkall\u00eb t\u00eb caktuar t\u00eb ngecjes mendore.<\/p>\n<p><strong>Distrofia miotonike tip 2:<\/strong><\/p>\n<p>DM tip 2 fillon n\u00eb mosh\u00ebn madhore, zakonisht midis mosh\u00ebs 20 dhe 40 vje\u00e7. DM tip 2 quhet edhe miopati miotonike proksimale sepse prek kryesisht muskujt e qaf\u00ebs, shpatullave dhe ijeve, pra ata muskuj q\u00eb jan\u00eb m\u00eb af\u00ebr bustit.<\/p>\n<p><strong>Pasojat nga s\u00ebmundja:<\/strong><\/p>\n<p>Dob\u00ebsia e muskujve mund t\u00eb p\u00ebrparoj\u00eb deri n\u00eb pik\u00ebn e paaft\u00ebsis\u00eb p\u00ebr t\u00eb l\u00ebvizur n\u00eb m\u00ebnyr\u00eb t\u00eb pavarur, k\u00ebshtu q\u00eb pacient\u00ebve mund t&#8217;ju duhet t\u00eb p\u00ebrdorin nj\u00eb karroc\u00eb invalidi. S\u00ebmundja rezulton gjithashtu me v\u00ebshtir\u00ebsi n\u00eb g\u00eblltitje, frym\u00ebmarrje, infeksione t\u00eb shpeshta t\u00eb frym\u00ebmarrjes dhe komplikime t\u00eb tjera q\u00eb ndikojn\u00eb negativisht n\u00eb jet\u00ebgjat\u00ebsin\u00eb. Shumica e njer\u00ebzve me distrofi miotonike zhvillojn\u00eb katarakte. Anomalit\u00eb e ritmit t\u00eb zemr\u00ebs, t\u00eb quajtura aritmi, jan\u00eb t\u00eb shpeshta tek njer\u00ebzit me DM. N\u00eb disa raste, aritmia mund t\u00eb jet\u00eb k\u00ebrc\u00ebnuese p\u00ebr jet\u00ebn dhe t\u00eb shkaktoj\u00eb vdekje t\u00eb hershme. Simptoma t\u00eb tjera q\u00eb shihen tek disa, por jo t\u00eb gjith\u00eb njer\u00ebzit me DM p\u00ebrfshijn\u00eb diabetin, d\u00ebmtimin e m\u00ebl\u00e7is\u00eb, gur\u00ebt n\u00eb t\u00ebmth, \u00e7rregullimet e tretjes, uljen e fertilitetit, etj.<\/p>\n<p><strong>Trajtimi i s\u00ebmundjes:<\/strong><\/p>\n<p>Aktualisht nuk ka trajtime t\u00eb disponueshme q\u00eb ndryshojn\u00eb rr\u00ebnj\u00ebsisht rrjedh\u00ebn e distrofis\u00eb miotonike. Menaxhimi i DM bazohet n\u00eb k\u00ebshillimin gjenetik, ruajtjen e funksionit t\u00eb pavarur motorik, parandalimin e komplikimeve kardiopulmonare dhe ofrimin e trajtimit simptomatik t\u00eb miotonis\u00eb, hipersomnis\u00eb, dhimbjes dhe komplikimeve t\u00eb tjera multiorganike. Trajtimi dhe kujdesi jan\u00eb t\u00eb individualizuara dhe t\u00eb fokusuara n\u00eb leht\u00ebsimin e simptomave dhe parandalimin e komplikimeve. Kujdesi p\u00ebr anestezin\u00eb \u00ebsht\u00eb nj\u00eb nga aspektet m\u00eb t\u00eb r\u00ebnd\u00ebsishme t\u00eb trajtimit t\u00eb distrofis\u00eb muskulare miotonike. Anestezia e p\u00ebrgjithshme rutinore mund t\u00eb jet\u00eb ve\u00e7an\u00ebrisht e rrezikshme sepse muskujt mund t\u00eb relaksohen m\u00eb shum\u00eb ose m\u00eb gjat\u00eb se zakonisht si p\u00ebrgjigje ndaj medikamenteve q\u00eb p\u00ebrdoren p\u00ebr anestezi.<\/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>Distrofia muskulare miotonike e tipit I dhe II\/Myotonic dystrophy type I and type II ICD: G 71.1 Prevalenca: 10\/100.000 Distrofia [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":166966,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/26-Myotonic-muscular-dystrophy-type-I-and-II-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/26-Myotonic-muscular-dystrophy-type-I-and-II-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"2585","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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