{"id":139481,"date":"2021-02-19T10:08:47","date_gmt":"2021-02-19T09:08:47","guid":{"rendered":"https:\/\/sdk.mk\/?p=139481"},"modified":"2021-02-19T10:08:47","modified_gmt":"2021-02-19T09:08:47","slug":"ju-njoftojme-me-semundjet-e-rralla-semundja-charcot-marie-tooth","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-charcot-marie-tooth\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: S\u00cbMUNDJA CHARCOT MARIE TOOTH"},"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=fU7p6mgJwIY&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=19\" target=\"_blank\" rel=\"noopener noreferrer\"><strong><em>Charcot Marie Tooth-CMT &#8211; S\u00ebmundja Charcot Marie Tooth<\/em><\/strong><\/a><\/p>\n<p><b>ICD G-60.0<\/b><\/p>\n<p><b>Prevalenca: 1-5\/10.000<\/b><\/p>\n<p>&nbsp;<\/p>\n<p><span style=\"font-weight: 400;\">Neuropatit\u00eb trash\u00ebguese senzomotorike<\/span> <span style=\"font-weight: 400;\">jan\u00eb s\u00ebmundje q\u00eb shkaktohen nga d\u00ebmtimi i nervave periferik\u00eb q\u00eb transmetojn\u00eb informata dhe sinjale nga truri dhe palca kurrizore gjer te pjesa tjet\u00ebr e trupit, si dhe sinjale senzorike si\u00e7 \u00ebsht\u00eb prekja nga l\u00ebkura drejt trurit dhe palc\u00ebs kurrizore. Dob\u00ebsia progresive e muskujve fillon t\u00eb shprehet n\u00eb nj\u00eb mosh\u00eb t\u00eb re, por s\u00ebmundja mund t\u00eb shfaqet n\u00eb \u00e7do mosh\u00eb. Simptomat nisin te shputat dhe pulpat e k\u00ebmb\u00ebve, por gjithashtu mund ti kapin edhe gisht\u00ebrinjt\u00eb, shuplakat dhe duart. Charcot Marie Tooth<\/span> <span style=\"font-weight: 400;\">\u00ebsht\u00eb em\u00ebruar sipas tre mjek\u00ebve q\u00eb e kan\u00eb p\u00ebrshkruar s\u00ebmundjen n\u00eb vitin 1886. Kjo s\u00ebmundje zakonisht nuk \u00ebsht\u00eb e rrezikshme p\u00ebr jet\u00ebn, por mund t\u00eb kap edhe muskujt e p\u00ebrfshir\u00eb n\u00eb funksione jet\u00ebsore si\u00e7 \u00ebsht\u00eb frym\u00ebmarrja.<\/span><\/p>\n<p><b>Shkaqet:<\/b><\/p>\n<p><span style=\"font-weight: 400;\">S\u00ebmundja Charcot Marie Tooth \u00ebsht\u00eb e shkaktuar nga mutacione n\u00eb gjenet q\u00eb prodhojn\u00eb proteina t\u00eb p\u00ebrfshira n\u00eb struktur\u00ebn dhe funksionin e aksonit ose t\u00eb mielin\u00ebs. M\u00eb shum\u00eb se 40 gjene jan\u00eb t\u00eb identifikuara te CMT, secili gjen \u00ebsht\u00eb i lidhur me nj\u00eb ose me m\u00eb shum\u00eb lloje s\u00ebmundjesh, dhe t\u00eb gjitha mutacionet ndikojn\u00eb n\u00eb funksionin e nervave periferik.<\/span><\/p>\n<p><b>Simptomat:<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Shenjat e hershme dhe tipike p\u00ebrfshijn\u00eb dob\u00ebsi dhe paraliz\u00eb e muskujve t\u00eb shputave dhe pulpave, t\u00eb cilat mund t\u00eb shkaktojn\u00eb v\u00ebshtir\u00ebsi n\u00eb ngritjen e shput\u00ebs dhe ecje specifike me rr\u00ebzime t\u00eb shpeshta. Jan\u00eb t\u00eb mundshme probleme me ekuilibrin dhe deformime t\u00eb shputave. Me p\u00ebrparimin e s\u00ebmundjes, vjen gjer te dob\u00ebsia dhe atrofia e shuplakave dhe v\u00ebshtir\u00ebsi n\u00eb motorik\u00ebn fine. Degjenerimi i aksoneve t\u00eb nervave senzorik mund t\u00eb rezultoj\u00eb n\u00eb nj\u00eb ndjeshm\u00ebri t\u00eb zvog\u00ebluar ndaj ngroht\u00ebsis\u00eb, t\u00eb ftohtit dhe prekjes. Ndjesia p\u00ebr dridhje dhe pozicion gjithashtu \u00ebsht\u00eb e zvog\u00ebluar. S\u00ebmundja mund t\u00eb shkaktoj\u00eb skolioz\u00eb dhe instabilitet n\u00eb artikulacionin kokso-femoral. Dridhjet, kontrakturat dhe spazmat muskulare jan\u00eb t\u00eb zakonshme. Dhimbja nervore ndryshon nga e leht\u00eb gjer e r\u00ebnd\u00eb, kurse disa njer\u00ebz kan\u00eb nevoj\u00eb p\u00ebr ortoz\u00eb t\u00eb shput\u00ebs p\u00ebr t\u00eb ruajtur l\u00ebvizshm\u00ebrin\u00eb. Mund t\u00eb preken edhe shikimi dhe d\u00ebgjimi.\u00a0<\/span><\/p>\n<p><b>(radio jingle I njohim s\u00ebmundjet e rralla)<\/b><\/p>\n<p><span style=\"font-weight: 400;\">N\u00ebse s\u00ebmundja i kap nervat q\u00eb i kontrollojn\u00eb muskujt e diafragm\u00ebs shfaqen edhe v\u00ebshtir\u00ebsi n\u00eb frym\u00ebmarrje. Simptomat ndryshojn\u00eb prej nj\u00ebrit te tjetri pacient, madje edhe mes ant\u00ebtar\u00ebve t\u00eb t\u00eb nj\u00ebjt\u00ebs familje. Progresi i simptomave \u00ebsht\u00eb gradual. Ekzistojn\u00eb lloje t\u00eb ndryshme t\u00eb CMT, t\u00eb cilat ndryshojn\u00eb n\u00eb var\u00ebsi t\u00eb m\u00ebnyr\u00ebs si trash\u00ebgohen, mosh\u00ebs kur fillon s\u00ebmundja dhe n\u00ebse p\u00ebrfshihet mielina apo aksoni. <\/span><b>CMT 1<\/b><span style=\"font-weight: 400;\"> \u00ebsht\u00eb e shkaktuar nga d\u00ebmtimet n\u00eb mb\u00ebshtjell\u00ebsen e mielin\u00ebs. <\/span><b>CMT 3<\/b><span style=\"font-weight: 400;\"> ose <\/span><b>Dejerine-Sottas, <\/b><span style=\"font-weight: 400;\">\u00ebsht\u00eb nj\u00eb neuropati demielinizuese shum\u00eb e r\u00ebnd\u00eb q\u00eb shfaqet n\u00eb mosh\u00eb shum\u00eb t\u00eb re. Foshnjet kan\u00eb atrofi t\u00eb shprehur muskulare, dob\u00ebsi, vones\u00eb n\u00eb zhvillimin motorik dhe probleme senzorike. Simptomet mund t\u00eb keqsohen gjer n\u00eb nj\u00eb invaliditet t\u00eb thell\u00eb, humbje t\u00eb ndjeshm\u00ebris\u00eb dhe skolioz\u00eb. <\/span><b>CMT 4<\/b><span style=\"font-weight: 400;\">\u00a0 p\u00ebrfshin disa n\u00ebntipe t\u00eb ndryshme t\u00eb neuropative demielinizuese dhe aksonale, neuropati motorike q\u00eb trash\u00ebgohen n\u00eb m\u00ebnyr\u00eb autosomale recisive.<\/span><\/p>\n<p><b>Diagnoza:<\/b><\/p>\n<p><span style=\"font-weight: 400;\">P\u00ebrfshin histori t\u00eb detajuar mjek\u00ebsore, histori familjare dhe ekzaminim neurologjik, konstatim i dob\u00ebsis\u00eb s\u00eb muskujve t\u00eb duarve, k\u00ebmb\u00ebve, shuplakave dhe shputave, mas\u00eb muskulare e zvog\u00ebluar, reflekse t\u00eb dob\u00ebta dhe humbje ndjeshm\u00ebrie, vler\u00ebsim i deformimeve t\u00eb shput\u00ebs dhe problemeve tjera ortopedike, si\u00e7 jan\u00eb skolioza e leht\u00eb ose anomali n\u00eb artikulacionin koksofemoral. Mjeku mund t\u00eb ordinoj\u00eb ekzaminime p\u00ebr p\u00ebr\u00e7ueshm\u00ebrin\u00eb nervore dhe elektromiografi (EMG). Testimi gjenetik mund ti zbuloj\u00eb llojet m\u00eb t\u00eb zakonshme t\u00eb CMT (testet e ADN-s\u00eb nuk jan\u00eb t\u00eb disponueshme p\u00ebr t\u00eb gjitha llojet e CMT). Biopsia nervore p\u00ebrfshin marrjen dhe analiz\u00ebn mikroskopike t\u00eb nj\u00eb pjese t\u00eb vog\u00ebl t\u00eb nervit periferik nga pulpa e k\u00ebmb\u00ebs. Personat me CMT1 zakonisht tregojn\u00eb shenja t\u00eb demielinizimit kurse personat me CMT2 zakonisht tregojn\u00eb shenja t\u00eb degjenerimit t\u00eb aksonit t\u00eb nervit.<\/span><\/p>\n<p><b>Trajtimi:<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Nuk ka sh\u00ebrim p\u00ebr s\u00ebmundjen Charcot Marie Tooth, por terapia fizikale dhe profesionale, aparatet ortopedike dhe nd\u00ebrhyrjet kirurgjikale mund tu ndihmojn\u00eb njer\u00ebzve t\u00eb ballafaqohen me simptomat e paaft\u00ebsis\u00eb. Analgjetik\u00eb mund tu jepen personave q\u00eb kan\u00eb dhimbje t\u00eb forta.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Ruajtja e l\u00ebvizshm\u00ebris\u00eb, fleksibilitetit dhe forc\u00ebs s\u00eb muskujve \u00ebsht\u00eb shum\u00eb e r\u00ebnd\u00ebsishme. Fillimi i hersh\u00ebm i trajtimit mund ta vonoj\u00eb, zvog\u00ebloj\u00eb degjenerimin nervor dhe dob\u00ebsin\u00eb e muskujve k\u00ebshtu duke prevenuar paaft\u00ebsin\u00eb.\u00a0<\/span><\/p>\n<p><b>(radio jingle I njohim s\u00ebmundjet e rralla)<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Terapia fizikale p\u00ebrfshin trajnime p\u00ebr forcimin e muskujve, zgjatje t\u00eb muskujve, ligamenteve dhe ushtrime t\u00eb moderuara aerobike. Shum\u00eb njer\u00ebz me Charcot Marie Tooth kan\u00eb nevoj\u00eb p\u00ebr ortoz\u00eb t\u00eb ky\u00e7it t\u00eb k\u00ebmb\u00ebs p\u00ebr t\u00eb ruajtur l\u00ebvizshm\u00ebrin\u00eb dhe p\u00ebr t\u00eb parandaluar l\u00ebndimet, t\u00eb cilat sigurojn\u00eb stabilitet gjat\u00eb aktiviteteve si\u00e7 jan\u00eb ecja ose ngjitja e shkall\u00ebve. K\u00ebpuc\u00ebt me qaf\u00eb mund t\u2019i japin personit mb\u00ebshtetje p\u00ebr ky\u00e7in e k\u00ebmb\u00ebs. Mbajt\u00ebs p\u00ebr gishtin e madh mund t\u00eb ndihmojn\u00eb kur shuplaka \u00ebsht\u00eb e dob\u00ebt dhe kur motorika fine \u00ebsht\u00eb e humbur. P\u00ebrdoren edhe pajisje ndihm\u00ebse para se t\u00eb vij\u00eb gjer te invaliditeti.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Disa persona me CMT marrin vendim p\u00ebr operacione ortopedike p\u00ebr korigjim t\u00eb deformimeve t\u00eb shprehura. Terapia profesionale i m\u00ebson m\u00ebnyra t\u00eb reja si t\u00eb dalin n\u00eb fund me aktivitetet e p\u00ebrditshme. Terapia gjenetike \u00ebsht\u00eb nj\u00eb sfer\u00eb me perspektiv\u00eb por ende n\u00eb faz\u00eb hulumtimi. Ekperimentet b\u00ebhen me kultura t\u00eb qelizave dhe modele kafsh\u00ebsh me k\u00ebt\u00eb s\u00ebmundje, me faktor\u00eb trofik ose me faktor\u00eb q\u00eb ndikojn\u00eb n\u00eb rritjen e nervave.<\/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>Charcot Marie Tooth-CMT &#8211; S\u00ebmundja Charcot Marie Tooth ICD G-60.0 Prevalenca: 1-5\/10.000 &nbsp; Neuropatit\u00eb trash\u00ebguese senzomotorike jan\u00eb s\u00ebmundje q\u00eb shkaktohen [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":139479,"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\/19-SHarko-Mari-Tut-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/19-SHarko-Mari-Tut-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"729","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: S\u00cbMUNDJA CHARCOT MARIE TOOTH - \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-semundja-charcot-marie-tooth\/\" \/>\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: S\u00cbMUNDJA CHARCOT MARIE TOOTH - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Charcot Marie Tooth-CMT &#8211; 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