{"id":188847,"date":"2023-02-16T08:32:28","date_gmt":"2023-02-16T07:32:28","guid":{"rendered":"https:\/\/sdk.mk\/?p=188847"},"modified":"2023-02-16T08:32:28","modified_gmt":"2023-02-16T07:32:28","slug":"ju-njoftojme-me-semundjet-e-rralla-distrofia-muskulare-facioskapulohumerale","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-distrofia-muskulare-facioskapulohumerale\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: DISTROFIA MUSKULARE FACIOSKAPULOHUMERALE"},"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><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Distrofia muskulare facioskapulohumerale<\/span><\/span><\/strong><\/em><\/p>\n<p><span style=\"font-size: medium;\"><span lang=\"mk-MK\">ICD 10: G71.02<\/span><\/span><\/p>\n<p><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Prevalenc\u00eb: 4\/100.000<\/span><\/span><\/p>\n<p><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Distrofia muskulare facioskapulohumerale \u00ebsht\u00eb nj\u00eb \u00e7rregullim i rrall\u00eb, gjenetik, progresiv i muskujve, n\u00eb t\u00eb cilin muskujt e fytyr\u00ebs, tehut e shpatullave dhe krah\u00ebve jan\u00eb m\u00eb t\u00eb prekur. Emri i k\u00ebsaj s\u00ebmundjeje vjen nga fjala facies (fjal\u00eb latine dhe term mjek\u00ebsor p\u00ebr fytyr\u00ebn); scapula (fjal\u00eb latine dhe term anatomik p\u00ebr tehun e shpatull\u00ebs) dhe humerus (fjal\u00eb latine p\u00ebr pjes\u00ebn e sip\u00ebrme t\u00eb krahut dhe term anatomik p\u00ebr kock\u00ebn e vendosur midis shpatull\u00ebs dhe b\u00ebrrylit). Termi distrofi muskulare n\u00ebnkupton degjenerimin (humbjen) progresive t\u00eb muskujve t\u00eb ndjekur nga dob\u00ebsia dhe atrofia e muskujve. Dob\u00ebsia e par\u00eb dhe m\u00eb e r\u00ebnd\u00eb prek fytyr\u00ebn, shpatullat dhe krah\u00ebt e sip\u00ebrm, por s\u00ebmundja zakonisht shkakton dob\u00ebsi edhe n\u00eb muskujt e tjer\u00eb. Kjo distrofi \u00ebsht\u00eb lloji i tret\u00eb m\u00eb i zakonsh\u00ebm i distrofis\u00eb muskulare, pas distrofive muskulare Duchenne dhe Becker dhe distrofis\u00eb miotonike.<\/span><\/span><\/p>\n<p><strong><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Shkaqet:<\/span><\/span><\/strong><\/p>\n<p><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Kjo s\u00ebmundje mund t\u00eb trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale-dominuese, n\u00ebp\u00ebrmjet babait ose n\u00ebn\u00ebs, ose mund t\u00eb shfaqet pa histori familjare n\u00eb rreth 30% t\u00eb njer\u00ebzve. Shkaku m\u00eb i mundsh\u00ebm \u00ebsht\u00eb nj\u00eb gabim gjenetik (mutacion) q\u00eb \u00e7on n\u00eb shprehje t\u00eb pap\u00ebrshtatshme t\u00eb gjenit t\u00eb dyfisht\u00eb t\u00eb protein\u00ebs homeobox 4 (DUX4) n\u00eb kromozomin 4, n\u00eb rajonin D4Z4. Segmenti nuk \u00ebsht\u00eb pjes\u00eb e ndonj\u00eb gjeni t\u00eb ve\u00e7ant\u00eb, por duket se nd\u00ebrhyn n\u00eb p\u00ebrpunimin e materialit gjenetik.Shkenc\u00ebtar\u00ebt deri tani kan\u00eb p\u00ebrshkruar dy lloje t\u00eb FSHD: Tipi 1 dhe 2. Dy llojet zakonisht kan\u00eb t\u00eb nj\u00ebjtat shenja dhe simptoma dhe ndryshojn\u00eb n\u00eb shkakun e tyre gjenetik. FSHD1 shkaktohet nga ndryshimet n\u00eb nj\u00eb rajon t\u00eb kromozomit 4 t\u00eb quajtur D4Z4 q\u00eb rezulton n\u00eb aktivizim jonormal t\u00eb gjenit DUX4. Mutacionet n\u00eb nj\u00eb gjen t\u00eb quajtur SMCHD1 jan\u00eb shkaku themelor i FSHD2.<\/span><\/span><\/p>\n<p><strong><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Simptomat:<\/span><\/span><\/strong><\/p>\n<p><span style=\"font-size: medium;\"><span lang=\"mk-MK\">N\u00eb rreth 90% t\u00eb pacient\u00ebve, simptomat zakonisht fillojn\u00eb para mosh\u00ebs 20 vje\u00e7, me dob\u00ebsi dhe atrofi t\u00eb muskujve rreth syve dhe goj\u00ebs, shpatullave, muskujve t\u00eb barkut, krah\u00ebve dhe pjes\u00ebve s\u00eb poshtme t\u00eb k\u00ebmb\u00ebve, zakonisht me p\u00ebrfshirje asimetrike. Shumica e njer\u00ebzve v\u00ebrejn\u00eb disa probleme n\u00eb t\u00eb 20-at e tyre, megjith\u00ebse disa dob\u00ebsi t\u00eb muskujve mund t\u00eb fillojn\u00eb q\u00eb n\u00eb f\u00ebmij\u00ebri dhe deri n\u00eb t\u00eb 50-at e tyre. N\u00eb disa njer\u00ebz, s\u00ebmundja mund t\u00eb jet\u00eb aq e leht\u00eb sa nuk v\u00ebrehen simptoma. N\u00eb k\u00ebto raste, s\u00ebmundja mund t\u00eb diagnostikohet vet\u00ebm pasi nj\u00eb an\u00ebtar tjet\u00ebr m\u00eb i prekur i familjes k\u00ebrkon ndihm\u00eb mjek\u00ebsore.Disa ekspert\u00eb e ndajn\u00eb k\u00ebt\u00eb distrofi n\u00eb dy forma: me fillimin tek t\u00eb rriturit dhe n\u00eb form\u00ebn infantile &#8211; me fillimin tek foshnjat. Fillimi i t\u00eb rriturve zakonisht fillon n\u00eb adoleshenc\u00eb dhe kjo form\u00eb \u00ebsht\u00eb shum\u00eb m\u00eb e zakonshme. N\u00eb \u00e7do form\u00eb t\u00eb FSHD, dob\u00ebsia e muskujve t\u00eb fytyr\u00ebs mund t\u00eb filloj\u00eb n\u00eb f\u00ebmij\u00ebri. Individ\u00ebt e prekur shpesh nuk shkojn\u00eb te mjeku derisa t\u00eb preken muskujt e shpatullave ose t\u00eb k\u00ebmb\u00ebve dhe p\u00ebrjetojn\u00eb v\u00ebshtir\u00ebsi p\u00ebr t\u00eb arritur kok\u00ebn me duar ose p\u00ebr t\u00eb ngjitur e zbritur shkall\u00ebt. Kur merren n\u00eb pyetje me kujdes, individ\u00ebt mund t\u00eb kujtojn\u00eb se kan\u00eb pasur simptoma qysh n\u00eb f\u00ebmij\u00ebri, t\u00eb tilla si teh\u00ebt e &#8220;mb\u00ebrthyer&#8221; t\u00eb shpatullave ose probleme me hedhjen e topit. Shum\u00eb shpesh, njer\u00ebzit thon\u00eb se nuk kan\u00eb mundur kurr\u00eb t\u00eb fishk\u00ebllejn\u00eb apo t\u00eb fryejn\u00eb nj\u00eb tullumbace apo se kan\u00eb pasur probleme me pirjen p\u00ebrmes nj\u00eb kashte, por mund t\u00eb mos i ken\u00eb lidhur k\u00ebto probleme me distrofin\u00eb muskulare. FSHD me fillimin infantil n\u00eb p\u00ebrgjith\u00ebsi ka nj\u00eb ecuri m\u00eb t\u00eb theksuar p\u00ebr sa i p\u00ebrket dob\u00ebsimit t\u00eb muskujve dhe ndonj\u00ebher\u00eb ndikon n\u00eb d\u00ebgjimin dhe shikimin. Provat paraprake sugjerojn\u00eb se forma e fillimit infantil shoq\u00ebrohet me nj\u00eb defekt m\u00eb t\u00eb madh n\u00eb ADN.<\/span><\/span><\/p>\n<p><strong><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Pasojat:<\/span><\/span><\/strong><\/p>\n<p><span style=\"font-size: medium;\"><span lang=\"mk-MK\">S\u00ebmundja zakonisht p\u00ebrparon shum\u00eb ngadal\u00eb dhe rrall\u00eb prek sistemin kardiovaskular ose t\u00eb frym\u00ebmarrjes. Shumica e individ\u00ebve t\u00eb prekur kan\u00eb nj\u00eb jet\u00ebgjat\u00ebsi normale. Megjithat\u00eb, ashp\u00ebrsia e s\u00ebmundjes \u00ebsht\u00eb shum\u00eb e ndryshueshme. N\u00eb shumic\u00ebn e njer\u00ebzve me FSHD, s\u00ebmundja p\u00ebrparon shum\u00eb ngadal\u00eb. Mund t\u00eb duhen deri n\u00eb 30 vjet q\u00eb s\u00ebmundja t\u00eb b\u00ebhet seriozisht invaliduese dhe kjo nuk i ndodh \u00e7do personi. \u00cbsht\u00eb vler\u00ebsuar se rreth 20% e student\u00ebve do t\u00eb ken\u00eb nevoj\u00eb p\u00ebrfundimisht p\u00ebr nj\u00eb karroce me rrota.<\/span><\/span><\/p>\n<p><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Muskujt q\u00eb rrethojn\u00eb syt\u00eb dhe goj\u00ebn jan\u00eb m\u00eb t\u00eb prekur. Dob\u00ebsia e syve \u00ebsht\u00eb shpesh shenja e par\u00eb e FSHD.Prandaj, personat me FSHD e kan\u00eb t\u00eb v\u00ebshtir\u00eb t\u00eb buz\u00ebqeshin, buz\u00ebt e tyre g\u00ebrvishten, k\u00ebshtu q\u00eb ata kan\u00eb probleme me fryrjen e balonave, pirjen nga kashta dhe fishk\u00ebllim\u00ebn. P\u00ebr shkak t\u00eb dob\u00ebsis\u00eb s\u00eb syve, syt\u00eb mund t\u00eb mbeten pjes\u00ebrisht t\u00eb hapur gjat\u00eb gjumit, gj\u00eb q\u00eb mund t\u00eb shkaktoj\u00eb inflamacion t\u00eb kornes\u00eb. P\u00ebr shkak t\u00eb dob\u00ebsis\u00eb s\u00eb shpatullave, n\u00eb FSHD v\u00ebrehen muskuj q\u00eb zakonisht jan\u00eb t\u00eb paduksh\u00ebm nga p\u00ebrpara.Shumica e njer\u00ebzve kan\u00eb dob\u00ebsi n\u00eb zon\u00ebn e tehut t\u00eb shpatullave, q\u00eb shpesh \u00ebsht\u00eb shenj\u00eb se di\u00e7ka nuk shkon. Dob\u00ebsia e muskujve n\u00eb ije dhe legen mund ta b\u00ebj\u00eb t\u00eb v\u00ebshtir\u00eb ngjitjen e shkall\u00ebve ose ecjen n\u00eb distanca t\u00eb gjata.<\/span><\/span><\/p>\n<p><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Muskujt e p\u00ebrdorur p\u00ebr frym\u00ebmarrje jan\u00eb kryesisht t\u00eb paprekur, si n\u00eb format e tjera t\u00eb distrofis\u00eb muskulare.Disfagia (v\u00ebshtir\u00ebsi n\u00eb g\u00eblltitje) \u00ebsht\u00eb nj\u00eb dukuri e rrall\u00eb n\u00eb pacient\u00ebt me FSHD, por mund t\u00eb zhvillohet p\u00ebr shkak t\u00eb dob\u00ebsis\u00eb s\u00eb muskujve t\u00eb nofull\u00ebs dhe gjuh\u00ebs. N\u00eb shumic\u00ebn e njer\u00ebzve, dob\u00ebsia \u00ebsht\u00eb simetrike, ajo ndryshon t\u00eb pakt\u00ebn pak midis an\u00ebs s\u00eb majt\u00eb dhe t\u00eb djatht\u00eb t\u00eb trupit. N\u00eb disa raste, ky ndryshim mund t\u00eb jet\u00eb mjaft i habitsh\u00ebm. Ata kan\u00eb josimetri tipike me skolioz\u00eb t\u00eb leht\u00eb, lordoz\u00eb. S\u00ebmundja nuk ndikon ne senzitivitetin e as ne aft\u00ebsin\u00eb p\u00ebr t\u00eb komanduar sistemin urinat, zorr\u00ebt e as ne fuksionimin seksual. <\/span><\/span><\/p>\n<p><strong><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Diagnoza:<\/span><\/span><\/strong><\/p>\n<p><span style=\"font-size: medium;\"><span lang=\"mk-MK\">P\u00ebr t\u00eb arritur diagnoz\u00ebn, me r\u00ebnd\u00ebsi jan\u00eb simptomat edhe rezultatet nga k\u00ebto analiza: Kreatininkinaza n\u00eb serum, elektromiogrami, por testimi gjenetik \u00ebsht\u00eb ai q\u00eb e v\u00ebrteton diagnoz\u00ebn.<\/span><\/span><\/p>\n<p><strong><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Trajtimi:<\/span><\/span><\/strong><\/p>\n<p><span style=\"font-size: medium;\"><span lang=\"mk-MK\">Deri tani, nuk ka mjekim p\u00ebr k\u00ebt\u00eb s\u00ebmundje, por p\u00ebrdoren medikamente dhe trajtime me q\u00ebllim q\u00eb t\u00eb menaxhohen disa simptoma dhe t\u00eb ngadalsohet progresioni I s\u00ebmundjes. Terapia fizikale mundet t\u00eb ndihmoj\u00eb n\u00eb funksionin e fuqis\u00eb muskulare dhe p\u00ebrmir\u00ebsimin e mobilitetit. Medikamentet josteroide antiinflamatore gjithashtu p\u00ebrshkruhen p\u00ebr p\u00ebrmir\u00ebsimin e mobilitetit. Lubriknatet perdoren p\u00ebr ta parandaluar tharjen e syve tek personat q\u00eb kan\u00eb sy pjes\u00ebrisht t\u00eb hapur gjat\u00eb gjumit dhe masazhe. Ortozat p\u00ebr nyjet p\u00ebrmirsojn\u00eb l\u00ebvizjen dhe e ndalojn\u00eb r\u00ebnien. Mbajt\u00ebset e shpin\u00ebs, dhe korsetat mund\u00ebsojn\u00eb stabilizim t\u00eb muskujve n\u00eb pjes\u00ebn e lartme edhe t\u00eb poshtme t\u00eb kurrizit. Fiksimi kirurgjik i skapul\u00ebs n\u00eb murin e kraharorit mund t\u00eb p\u00ebrmir\u00ebsoj\u00eb gam\u00ebn e l\u00ebvizjes n\u00eb krah\u00eb. N\u00eb vitin 2014, u arrit nj\u00eb konsensus mbi patofiziologjin\u00eb e FSHD n\u00eb t\u00eb cilin studiuesit propozuan 4 qasje t\u00eb mundshme p\u00ebr trajtimin e s\u00ebmundjes: p\u00ebrmir\u00ebsimin e shtypjes epigjenetike t\u00eb D4Z4; duke synuar mRNA DUX4, duke p\u00ebrfshir\u00eb bashkimin ose poliadenilimin; bllokimi i aktivitetit t\u00eb protein\u00ebs DUX4; dhe frenimi i procesit ose proceseve t\u00eb induktuara nga DUX4 q\u00eb \u00e7ojn\u00eb n\u00eb p\u00ebrparimin e s\u00ebmundjes.<\/span><\/span><\/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 facioskapulohumerale ICD 10: G71.02 Prevalenc\u00eb: 4\/100.000 Distrofia muskulare facioskapulohumerale \u00ebsht\u00eb nj\u00eb \u00e7rregullim i rrall\u00eb, gjenetik, progresiv i muskujve, [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":188848,"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\/2023\/02\/16-Facioscapulohumeral-Muscular-Dystrophy-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/16-Facioscapulohumeral-Muscular-Dystrophy-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"305","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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