{"id":9590,"date":"2021-01-05T23:25:34","date_gmt":"2021-01-05T20:25:34","guid":{"rendered":"https:\/\/blog.annebebekkulubu.com\/?p=9590"},"modified":"2021-01-05T23:25:34","modified_gmt":"2021-01-05T20:25:34","slug":"sma-hastaligi-nedir-neden-olur","status":"publish","type":"post","link":"https:\/\/annebebekkulubu.com\/blog\/sma-hastaligi-nedir-neden-olur\/","title":{"rendered":"SMA hastal\u0131\u011f\u0131 nedir, neden olur?"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Yaz\u0131 \u0130\u00e7eri\u011fi<\/p>\n<label for=\"ez-toc-cssicon-toggle-item-69f4e8dfbdb0d\" class=\"ez-toc-cssicon-toggle-label\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/label><input type=\"checkbox\"  id=\"ez-toc-cssicon-toggle-item-69f4e8dfbdb0d\"  aria-label=\"A\u00e7\/Kapat\" \/><nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/annebebekkulubu.com\/blog\/sma-hastaligi-nedir-neden-olur\/#SMA_hastaligi_nedir_neden_olur\" >SMA hastal\u0131\u011f\u0131 nedir, neden olur?\u00a0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/annebebekkulubu.com\/blog\/sma-hastaligi-nedir-neden-olur\/#SMA_hastaligi_belirtileri_nelerdir\" >SMA hastal\u0131\u011f\u0131 belirtileri nelerdir?\u00a0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/annebebekkulubu.com\/blog\/sma-hastaligi-nedir-neden-olur\/#SMA_hastaliginin_4_tipi_mevcut\" >SMA hastal\u0131\u011f\u0131n\u0131n 4 tipi mevcut;<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/annebebekkulubu.com\/blog\/sma-hastaligi-nedir-neden-olur\/#SMA_hastaligi_tedavisi_var_mi\" >SMA hastal\u0131\u011f\u0131 tedavisi var m\u0131?\u00a0<\/a><\/li><\/ul><\/nav><\/div>\n<p><span style=\"font-weight: 400;\"><strong>SMA hastal\u0131\u011f\u0131 nedir, neden olur?<\/strong> SMA hastal\u0131\u011f\u0131 neden \u00e7o\u011fald\u0131? SMA hastal\u0131\u011f\u0131n\u0131n tedavisi var m\u0131?\u00a0 <strong>\u00c7ocuk Sa\u011fl\u0131\u011f\u0131 ve Hastal\u0131klar\u0131 Uzman\u0131 Prof. Dr. Vefik Ar\u0131ca<\/strong> yazd\u0131!&#8230;\u00a0<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"SMA_hastaligi_nedir_neden_olur\"><\/span><b>SMA hastal\u0131\u011f\u0131 nedir, neden olur?\u00a0<\/b><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\"><strong>SMA (Spinal Muskuler Atrofi)<\/strong> omurilikteki sinir h\u00fccrelerini etkileyerek hareket kabiliyetini k\u0131s\u0131tlayan genetik ge\u00e7i\u015fli,<a href=\"https:\/\/annebebekkulubu.com\/blog\/saglik\/bebeklerde-kas-gucsuzlugune-dikkat\/\"><strong> ilerleyici bir kas hastal\u0131\u011f\u0131d\u0131r.<\/strong><\/a><\/span><\/p>\n<p><span style=\"font-weight: 400;\">G\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 D\u00fcnya genelinde 1\/10.000, T\u00fcrkiye&#8217;de ise 1\/6.000&#8217;dir.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u0130stemli \u00e7al\u0131\u015fan kaslarda kuvvetsizlik ve erime g\u00f6r\u00fcl\u00fcr. \u0130stemsiz kaslar ise bu hastal\u0131ktan etkilenmez.<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><strong>SMA hastas\u0131<\/strong> bireylerin g\u00f6rme ve i\u015fitme duyular\u0131 hastal\u0131ktan etkilenmez. <a href=\"https:\/\/annebebekkulubu.com\/blog\/cocuk\/cocugun-duygusal-zeka-gelisimi-nasil-saglanir\/\"><strong>Zeka<\/strong><\/a> d\u00fczeyleri ise normal veya normalin \u00fczerindedir.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"SMA_hastaligi_belirtileri_nelerdir\"><\/span><strong>SMA hastal\u0131\u011f\u0131 belirtileri nelerdir?\u00a0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\">SMA hastal\u0131\u011f\u0131n\u0131n belirtileri bireyler aras\u0131 farkl\u0131l\u0131klar g\u00f6stermekle birlikte; genellikle a\u015fa\u011f\u0131daki bulgularla g\u00f6r\u00fcl\u00fcr.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Kurba\u011fa baca\u011f\u0131 pozisyonunda yatma\u00a0<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Dilde titreme\u00a0<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Kol-bacak hareketlerinin azalmas\u0131<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Kuvvetsizlik\u00a0<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Y\u00fcr\u00fcyememe\u00a0<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Oturamama<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Solunum sistemi kaslar\u0131n\u0131n tutulmas\u0131\u00a0ile solunum s\u0131k\u0131nt\u0131s\u0131<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">S\u0131k solunum yollar\u0131 enfeksiyonu ge\u00e7irme<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Beslenme bozukluklar\u0131\u00a0<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Zay\u0131f a\u011flama\u00a0<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Ya\u015f\u0131tlar\u0131ndan geride kalma<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Yava\u015f hareket etme\u00a0<\/span><\/li>\n<li style=\"font-weight: 400;\"><span style=\"font-weight: 400;\">Aile \u00f6yk\u00fcs\u00fc olma<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\"><strong>SMA hastal\u0131\u011f\u0131n\u0131n kesin tan\u0131s\u0131<\/strong> genetik inceleme ile konulur. Hastalardan al\u0131nan bir kan \u00f6rne\u011fi ile test yap\u0131l\u0131r.\u00a0<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"SMA_hastaliginin_4_tipi_mevcut\"><\/span><strong>SMA hastal\u0131\u011f\u0131n\u0131n 4 tipi mevcut;<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><b>SMA hastal\u0131\u011f\u0131n\u0131n seyrine g\u00f6re tipleri a\u015fa\u011f\u0131daki gibidir.<\/b><\/p>\n<p>T\u0130P 1 SMA<\/p>\n<p><span style=\"font-weight: 400;\">En a\u011f\u0131r seyreden tipidir. Hastal\u0131k ilk 6 ayda belirti verir. Baz\u0131 hastalarda belirtiler do\u011fum \u00f6ncesi d\u00f6nemde ba\u015flayabilir. Gebeli\u011fin son d\u00f6nemlerinde; bebek hareketlerinde azalma g\u00f6r\u00fclebilir. <\/span><span style=\"font-weight: 400;\">Bu bebeklerin y\u00fcz hareketleri normal, bak\u0131\u015flar\u0131 canl\u0131d\u0131r. G\u00f6z konta\u011f\u0131 kurarlar. \u0130leti\u015fim becerileri olduk\u00e7a g\u00fc\u00e7l\u00fcd\u00fcr, \u00e7evreye kar\u015f\u0131 ilgilidirler.<\/span><\/p>\n<p><b>T\u0130P 2 SMA<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Belirtiler 6-18 ay aras\u0131 d\u00f6nemde g\u00f6r\u00fcl\u00fcr. \u0130lk 6 ay bebe\u011fin geli\u015fimi normaldir. Bu hastalarda ba\u015f kontrol\u00fc vard\u0131r, genellikle oturabilirler. Hastalar\u0131n \u00e7o\u011fu yard\u0131ms\u0131z ayakta durmay\u0131 ve y\u00fcr\u00fcmeyi ba\u015faramaz. Omurga e\u011frilikleri (skolyoz) g\u00f6r\u00fclebilir.<\/span><\/p>\n<p><b>T\u0130P 3 SMA<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Belirtiler 18. aydan sonra g\u00f6r\u00fcl\u00fcr. Bebekler do\u011fum esnas\u0131nda normaldirler. Hastalar y\u00fcr\u00fcyebilir; ancak kas zaaf\u0131 mevcuttur. Hastal\u0131k ilerledik\u00e7e kal\u00e7a ve bacak kaslar\u0131ndaki kuvvetsizlik ko\u015fmay\u0131 engeller, d\u00fc\u015fmeler s\u0131k olarak g\u00f6r\u00fcl\u00fcr, y\u00fcr\u00fcme g\u00fc\u00e7le\u015fir. 20 li ya\u015flarda tekerlekli sandalyeye ihtiya\u00e7 duyulabilirler. Bu d\u00f6nemde omurga e\u011frilikleri (skolyoz) gibi iskelet bozukluklar\u0131n\u0131n belirginle\u015fti\u011fi g\u00f6r\u00fcl\u00fcr. Yutma ve \u00e7i\u011fneme kaslar\u0131n\u0131n g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fc nadir olarak g\u00f6r\u00fcl\u00fcr. Solunum etkilenmesi, tip 1 ve tip 2 deki kadar \u015fiddetli de\u011fildir.<\/span><\/p>\n<p><b>T\u0130P 4 SMA<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Tip 4 yeti\u015fkinlikte ortaya \u00e7\u0131kar. Hastal\u0131\u011f\u0131n ba\u015flang\u0131c\u0131 ve ilerlemesi yava\u015f seyreder. Eri\u015fkin tip SMA hastalar\u0131 genellikle y\u00fcr\u00fcyebilirler; az say\u0131daki hasta tekerlekli sandalyeye ihtiya\u00e7 duyar. Kuvvetsizlik ve kas erimesi yava\u015f bir bi\u00e7imde yay\u0131l\u0131r.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"SMA_hastaligi_tedavisi_var_mi\"><\/span><strong>SMA hastal\u0131\u011f\u0131 tedavisi var m\u0131?\u00a0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\">SMA hastal\u0131\u011f\u0131 genetik ge\u00e7i\u015fli bir hastal\u0131k oldu\u011fundan kesin ve tek tedavisi yoktur. Tan\u0131dan sonra FDA ve EMA taraf\u0131ndan onayl\u0131 bir tak\u0131m ila\u00e7lar kullan\u0131lmakta ve fizik tedavi ile tedaviler m\u00fcmk\u00fcn. Ancak gen tedavisi de yap\u0131labilmekle beraber nadir se\u00e7ilmi\u015f vakalarda faydas\u0131 olmaktad\u0131r.<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>SMA hastal\u0131\u011f\u0131 nedir, neden olur? SMA hastal\u0131\u011f\u0131 neden \u00e7o\u011fald\u0131? SMA hastal\u0131\u011f\u0131n\u0131n tedavisi var m\u0131?\u00a0 \u00c7ocuk Sa\u011fl\u0131\u011f\u0131 ve Hastal\u0131klar\u0131 Uzman\u0131 Prof. Dr. Vefik Ar\u0131ca yazd\u0131!&#8230;\u00a0 SMA hastal\u0131\u011f\u0131 nedir, neden olur?\u00a0 SMA (Spinal Muskuler Atrofi) omurilikteki sinir h\u00fccrelerini etkileyerek hareket kabiliyetini k\u0131s\u0131tlayan genetik ge\u00e7i\u015fli, ilerleyici bir kas hastal\u0131\u011f\u0131d\u0131r. G\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 D\u00fcnya genelinde 1\/10.000, T\u00fcrkiye&#8217;de ise 1\/6.000&#8217;dir.\u00a0 \u0130stemli [&hellip;]<\/p>\n","protected":false},"author":151,"featured_media":9591,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"jetpack_post_was_ever_published":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[6],"tags":[],"class_list":{"0":"post-9590","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-bebek"},"jetpack_sharing_enabled":true,"jetpack_featured_media_url":"https:\/\/i0.wp.com\/annebebekkulubu.com\/blog\/wp-content\/uploads\/2021\/01\/sma-hastaligi-neden-olur.jpg?fit=626%2C417&ssl=1","jetpack-related-posts":[],"_links":{"self":[{"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/posts\/9590","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/users\/151"}],"replies":[{"embeddable":true,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/comments?post=9590"}],"version-history":[{"count":0,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/posts\/9590\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/media\/9591"}],"wp:attachment":[{"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/media?parent=9590"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/categories?post=9590"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/tags?post=9590"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}