{"id":6,"date":"2011-06-03T18:33:00","date_gmt":"2011-06-03T18:33:00","guid":{"rendered":"http:\/\/83.139.112.23\/~myotonia\/?page_id=6"},"modified":"2012-06-27T12:44:39","modified_gmt":"2012-06-27T12:44:39","slug":"sto-je-myotonia","status":"publish","type":"page","link":"https:\/\/www.myotonia.com.hr\/?page_id=6","title":{"rendered":"\u0160to je Myotonia?"},"content":{"rendered":"<p style=\"text-align: justify;\"><strong>MYOTONIA CONGENITA (KONGENITALNA MIOTONIJA)<\/strong><\/p>\n<p style=\"text-align: justify;\">\u00abNedistrofi\u010dne\u00bb miotonije uzrokovane\u00a0 su poreme\u0107ajima \u00a0ionskih kanala u mi\u0161i\u0107ima, a od distrofi\u010dnih miotonija razlikuju po tome \u0161to kao simptom nemaju progresivnu mi\u0161i\u0107nu slabost i pridru\u017eena sistemska oboljenja. U ovu skupinu bolesti ubrajaju se: <em>myotonia congenita i \u00a0paramyotonia congenita \u010dija je u\u010destalost u populaciji bijelaca oko 1:100 000.<\/em><\/p>\n<p style=\"text-align: justify;\">Myotonia (<em>myo \u2013 <\/em>gr\u010dki\u00a0 mi\u0161i\u0107, <em>tonus \u2013 <\/em>latinski tenzija) ozna\u010dava abnormalni klini\u010dki i neurofiziolo\u0161ki fenomen karakteriziran ote\u017eanom relaksacijom (opu\u0161tanjem) ili produljenom kontrakcijom (stezanjem) popre\u010dno-prugastih mi\u0161i\u0107a. Klini\u010dki se o\u010dituje tako da bolesnik nakon voljne kontrakcije mi\u0161i\u0107a ima te\u0161ko\u0107a u njihovoj relaksaciji. Oboljeli naj\u010de\u0161\u0107e opisuju uko\u010denost pri zapo\u010dinjanju nekog naglog pokreta. Karakteristi\u010dno je da se uko\u010denost mo\u017ee smanjiti nakon ponavljanja istog pokreta \u0161to se u ovih bolesnika naziva fenomen zagrijavanja \u00abwarm up phenomenon\u00bb.<\/p>\n<p style=\"text-align: justify;\"><em>Myotonia congenita <\/em>(kongenitalna miotonija) je naj\u010de\u0161\u0107a nasljedna miopatija ionskih kanala. Ovisno o tipu naslje\u0111ivanja kongenitalna miotonija se dijeli na autosomno-dominantnu ili Thomsenovu bolest (OMIM 160800) i autosomnom recesivnu ili Beckerovu bolest (OMIM 255700). Oba poreme\u0107aja \u00a0uzrokovana su mutacijama gena CLCN1 odgovornog za funkcioniranje \u00a0kloridnog kanal ClC-1 koji se nalazi u mi\u0161i\u0107ima. Klini\u010dka slika ova dva tipa bolesti je vrlo sli\u010dna, a razlikuje se prema dobi kada bolest nastupa, te\u017eini simptoma i na\u010dinu naslje\u0111ivanja.<\/p>\n<p style=\"text-align: justify;\">\r\n<div class=\"ngg-galleryoverview\" id=\"ngg-gallery-2-6\">\r\n\r\n\r\n\t\r\n\t<!-- Thumbnails -->\r\n\t\t\r\n\t<div id=\"ngg-image-8\" class=\"ngg-gallery-thumbnail-box\"  >\r\n\t\t<div class=\"ngg-gallery-thumbnail\" >\r\n\t\t\t<a href=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/image1.jpg\" title=\"Slika 1A\/ Figure 1A. Perkusijska miotonija\/Percussion myotonia\" class=\"shutterset_set_2\" >\r\n\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" title=\"image1\" alt=\"image1\" src=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/thumbs\/thumbs_image1.jpg\" width=\"100\" height=\"75\" \/>\r\n\t\t\t\t\t\t\t<\/a>\r\n\t\t<\/div>\r\n\t<\/div>\r\n\t\r\n\t\t\r\n \t\t\r\n\t<div id=\"ngg-image-9\" class=\"ngg-gallery-thumbnail-box\"  >\r\n\t\t<div class=\"ngg-gallery-thumbnail\" >\r\n\t\t\t<a href=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/image2.jpg\" title=\"Slika 1C\/Figure 1C. Perkusijska miotonija\/Percussion myotonia\" class=\"shutterset_set_2\" >\r\n\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" title=\"image2\" alt=\"image2\" src=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/thumbs\/thumbs_image2.jpg\" width=\"100\" height=\"75\" \/>\r\n\t\t\t\t\t\t\t<\/a>\r\n\t\t<\/div>\r\n\t<\/div>\r\n\t\r\n\t\t\r\n \t\t\r\n\t<div id=\"ngg-image-10\" class=\"ngg-gallery-thumbnail-box\"  >\r\n\t\t<div class=\"ngg-gallery-thumbnail\" >\r\n\t\t\t<a href=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/image3.jpg\" title=\"Slika 2. EMG zapis\/EMG\" class=\"shutterset_set_2\" >\r\n\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" title=\"image3\" alt=\"image3\" src=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/thumbs\/thumbs_image3.jpg\" width=\"100\" height=\"75\" \/>\r\n\t\t\t\t\t\t\t<\/a>\r\n\t\t<\/div>\r\n\t<\/div>\r\n\t\r\n\t\t\r\n \t\t\r\n\t<div id=\"ngg-image-11\" class=\"ngg-gallery-thumbnail-box\"  >\r\n\t\t<div class=\"ngg-gallery-thumbnail\" >\r\n\t\t\t<a href=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/image4.jpg\" title=\"Slika 3. Kromosom 7q35, smje\u0161taj gena ClC-1\/ Chromosome 7q35, ClC-1 gene location\" class=\"shutterset_set_2\" >\r\n\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" title=\"image4\" alt=\"image4\" src=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/thumbs\/thumbs_image4.jpg\" width=\"100\" height=\"75\" \/>\r\n\t\t\t\t\t\t\t<\/a>\r\n\t\t<\/div>\r\n\t<\/div>\r\n\t\r\n\t\t\r\n \t\t\r\n\t<div id=\"ngg-image-12\" class=\"ngg-gallery-thumbnail-box\"  >\r\n\t\t<div class=\"ngg-gallery-thumbnail\" >\r\n\t\t\t<a href=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/image5.jpg\" title=\"Slika 4.\/Figure 4. Slikovni prikaz kloridnog kanala ClC-1\/ Schematic of ClC-1 cloride channel\" class=\"shutterset_set_2\" >\r\n\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" title=\"image5\" alt=\"image5\" src=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/thumbs\/thumbs_image5.jpg\" width=\"100\" height=\"75\" \/>\r\n\t\t\t\t\t\t\t<\/a>\r\n\t\t<\/div>\r\n\t<\/div>\r\n\t\r\n\t\t\r\n \t\t\r\n\t<div id=\"ngg-image-13\" class=\"ngg-gallery-thumbnail-box\"  >\r\n\t\t<div class=\"ngg-gallery-thumbnail\" >\r\n\t\t\t<a href=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/image6.jpg\" title=\"Slika 1B\/Figure 1B. Prekusijska miotonija\/Percussion myotonia\" class=\"shutterset_set_2\" >\r\n\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" title=\"image6\" alt=\"image6\" src=\"https:\/\/www.myotonia.com.hr\/wp-content\/gallery\/myotonia\/thumbs\/thumbs_image6.jpg\" width=\"100\" height=\"75\" \/>\r\n\t\t\t\t\t\t\t<\/a>\r\n\t\t<\/div>\r\n\t<\/div>\r\n\t\r\n\t\t\r\n \t \t\r\n\t<!-- Pagination -->\r\n \t<div class='ngg-clear'><\/div>\n \t\r\n<\/div>\r\n\r\n<\/p>\n","protected":false},"excerpt":{"rendered":"<p>MYOTONIA CONGENITA (KONGENITALNA MIOTONIJA) \u00abNedistrofi\u010dne\u00bb miotonije uzrokovane\u00a0 su poreme\u0107ajima \u00a0ionskih kanala u mi\u0161i\u0107ima, a od distrofi\u010dnih miotonija razlikuju po tome \u0161to kao simptom nemaju progresivnu mi\u0161i\u0107nu slabost i pridru\u017eena sistemska oboljenja. U ovu skupinu bolesti ubrajaju se: myotonia congenita i \u00a0paramyotonia congenita \u010dija je u\u010destalost u populaciji bijelaca oko 1:100 000. Myotonia (myo \u2013 gr\u010dki\u00a0 mi\u0161i\u0107, tonus \u2013 latinski tenzija) ozna\u010dava abnormalni klini\u010dki i neurofiziolo\u0161ki fenomen karakteriziran ote\u017eanom relaksacijom (opu\u0161tanjem) ili produljenom kontrakcijom (stezanjem) popre\u010dno-prugastih [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"open","ping_status":"open","template":"","meta":{"footnotes":""},"class_list":["post-6","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.myotonia.com.hr\/index.php?rest_route=\/wp\/v2\/pages\/6"}],"collection":[{"href":"https:\/\/www.myotonia.com.hr\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.myotonia.com.hr\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.myotonia.com.hr\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.myotonia.com.hr\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=6"}],"version-history":[{"count":16,"href":"https:\/\/www.myotonia.com.hr\/index.php?rest_route=\/wp\/v2\/pages\/6\/revisions"}],"predecessor-version":[{"id":255,"href":"https:\/\/www.myotonia.com.hr\/index.php?rest_route=\/wp\/v2\/pages\/6\/revisions\/255"}],"wp:attachment":[{"href":"https:\/\/www.myotonia.com.hr\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=6"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}