{"id":3353,"date":"2020-11-20T17:36:00","date_gmt":"2020-11-20T14:36:00","guid":{"rendered":"https:\/\/annelertoplandik.com\/blog\/?p=3353"},"modified":"2020-11-22T17:39:33","modified_gmt":"2020-11-22T14:39:33","slug":"sma-hastaligi-nedir-nasil-anlasilir","status":"publish","type":"post","link":"https:\/\/annelertoplandik.com\/blog\/sma-hastaligi-nedir-nasil-anlasilir\/","title":{"rendered":"SMA Hastal\u0131\u011f\u0131 Nedir, Nas\u0131l Anla\u015f\u0131l\u0131r?"},"content":{"rendered":"\n<p>Spinal m\u00fcsk\u00fcler atrofi (SMA), sinir sisteminin kas hareketini kontrol eden k\u0131sm\u0131n\u0131 etkileyen nadir bir genetik bozukluktur. SMA hastal\u0131\u011f\u0131, omurili\u011fin motor sinirlerini (n\u00f6ronlar\u0131) etkiler.&nbsp;Genellikle v\u00fccudumuzu hareket ettirmek istedi\u011fimizde motor sinirler beynimizden gelen mesaj\u0131 kaslar\u0131m\u0131za g\u00f6ndererek kaslara hareket etmelerini s\u00f6yler.&nbsp;SMA&#8217;l\u0131 \u00e7ocuklarda bu mesajlar kaslara ula\u015fmaz.&nbsp;Bu, kas g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fcne, kas hasar\u0131na, kas kayb\u0131na (atrofi) ve sonunda i\u015flev kayb\u0131na neden olur.<\/p>\n\n\n\n<p>SMA hastal\u0131\u011f\u0131, bebekleri, \u00e7ocuklar\u0131, gen\u00e7leri ve yeti\u015fkinleri \u00e7e\u015fitli ya\u015flarda etkiler. SMA&#8217;l\u0131 \u00e7ocuklar emekleme, oturma, y\u00fcr\u00fcme ve uzuvlar\u0131n\u0131 ve boynunu hareket ettirmede g\u00fc\u00e7l\u00fck \u00e7ekebilir.&nbsp;Ayr\u0131ca nefes alma ve yutma yetenekleri de etkilenebilir.&nbsp;Zay\u0131flat\u0131c\u0131 ve genellikle \u00f6l\u00fcmc\u00fcl olan SMA, yakla\u015f\u0131k 10.000 do\u011fumdan birini etkiler ve bebekler aras\u0131nda \u00f6nde gelen genetik \u00f6l\u00fcm nedenidir.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>SMA T\u00fcrleri<\/strong><\/h2>\n\n\n\n<p>SMA, her \u00e7ocu\u011fu farkl\u0131 \u015fekilde etkileyen \u00e7ok karma\u015f\u0131k bir hastal\u0131kt\u0131r.&nbsp;\u00c7ocuklar\u0131 etkileyen \u00fc\u00e7 yayg\u0131n SMA t\u00fcr\u00fc \u015funlard\u0131r:&nbsp;<\/p>\n\n\n\n<ul><li><strong>SMA tip 1:<\/strong>&nbsp;Bu t\u00fcr, SMA&#8217;n\u0131n en \u015fiddetli \u015feklidir.&nbsp;Belirtiler do\u011fumda mevcut olabilir ya da ilk birka\u00e7 hafta i\u00e7inde geli\u015febilir.&nbsp;\u015eiddetli halsizlik, zay\u0131f ba\u015f kontrol\u00fc, a\u011flama, \u00f6ks\u00fcr\u00fck g\u00f6r\u00fcl\u00fcr, yutma ve beslenmede g\u00fc\u00e7l\u00fck \u00e7eker.&nbsp;<\/li><li><strong>SMA tip 2:<\/strong>&nbsp;Bu t\u00fcr, ya\u015fam\u0131n ilk \u00fc\u00e7 y\u0131l\u0131 i\u00e7inde geli\u015fir.&nbsp;SMA tip 2&#8217;li \u00e7ocuklar genellikle oturma pozisyonunda oturabilirler ancak kendi ba\u015flar\u0131na oturma pozisyonuna gelemezler.&nbsp;Gecikmi\u015f motor (fiziksel) geli\u015fim a\u015famalar\u0131, zay\u0131f kilo al\u0131m\u0131, zay\u0131f \u00f6ks\u00fcr\u00fck, el titremesi, kontrakt\u00fcrler (sabit eklem deformiteleri) ve skolyoz (e\u011fri omurga) g\u00f6r\u00fcl\u00fcr.<\/li><li><strong>SMA tip 3:<\/strong>&nbsp;SMA tip 3 olan \u00e7ocuklar, 18 ayl\u0131k ile ergenlik d\u00f6nemi aras\u0131nda g\u00f6r\u00fcl\u00fcr.&nbsp;SMA&#8217;n\u0131n \u00e7ok daha hafif bir \u015feklidir.&nbsp;Hareketlilik etkilenir, ancak durumun ilerlemesi tip 1 ve 2&#8217;den \u00e7ok daha yava\u015ft\u0131r. SMA tip 3, de\u011fi\u015fken kas g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fcne, kramplara ve yorgunlu\u011fa neden olur.&nbsp;SMA tip 3 olan baz\u0131 ki\u015filer ba\u011f\u0131ms\u0131z olarak y\u00fcr\u00fcyebilir;&nbsp;baz\u0131lar\u0131n\u0131n ise scooter veya y\u00fcr\u00fcme arac\u0131 gibi destekli mobilite cihazlar\u0131 kullanmas\u0131 gerekir.<\/li><\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>SMA hastal\u0131\u011f\u0131 belirtileri<\/strong><\/h2>\n\n\n\n<p>SMA&#8217;n\u0131n bir \u00e7ocu\u011fu nas\u0131l etkiledi\u011fi, bozuklu\u011fun ilk belirtilere ne zaman neden oldu\u011funa ba\u011fl\u0131d\u0131r.&nbsp;SMA&#8217;n\u0131n erken belirtileri \u015funlard\u0131r:<\/p>\n\n\n\n<ul><li>Kas g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fc ve zay\u0131f kas tonusu (kaslarda gev\u015fekli\u011fe neden olabilecek gerginlik eksikli\u011fi)<\/li><li>\u00c7ocu\u011fun bacaklar\u0131 genellikle kollardan daha zay\u0131ft\u0131r.<\/li><li>Bebeklerde beslenme g\u00fc\u00e7l\u00fc\u011f\u00fc ve zay\u0131f bir a\u011flama olabilir.<\/li><li>K\u00fc\u00e7\u00fck \u00e7ocuklar oturma, emekleme veya y\u00fcr\u00fcme gibi fiziksel geli\u015fim a\u015famalar\u0131na ula\u015fmada ge\u00e7 kal\u0131r veya ula\u015famaz.<\/li><li>Y\u00fcz kaslar\u0131 etkilenmez ancak \u00e7ocuk yutma g\u00fc\u00e7l\u00fc\u011f\u00fc \u00e7ekebilir.<\/li><\/ul>\n\n\n\n<p>SMA semptomlar\u0131 ilerleyicidir, bu da zamanla k\u00f6t\u00fcle\u015ftikleri anlam\u0131na gelir.&nbsp;Uzuv ve g\u00f6\u011f\u00fcs kaslar\u0131 zay\u0131flayarak nefes almay\u0131 zorla\u015ft\u0131r\u0131r.&nbsp;Solunum kaslar\u0131n\u0131n zay\u0131fl\u0131\u011f\u0131, \u00f6zellikle \u00e7ocuklarda t\u00fcm SMA t\u00fcrlerinin en ciddi komplikasyonudur.<\/p>\n\n\n\n<p>SMA&#8217;n\u0131n v\u00fccudun t\u00fcm k\u0131s\u0131mlar\u0131n\u0131 etkilemedi\u011fine dikkat etmek \u00f6nemlidir.&nbsp;Zeka etkilenmez ve SMA&#8217;l\u0131 \u00e7ocuklar normal okullara devam eder.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>SMA hastal\u0131\u011f\u0131 nas\u0131l te\u015fhis edilir?<\/strong><\/h2>\n\n\n\n<p>Spinal musk\u00fcler atrofi tan\u0131s\u0131, giderek artan g\u00fc\u00e7s\u00fczl\u00fckle ili\u015fkili spesifik semptomlar\u0131n ani veya kademeli olarak ba\u015flamas\u0131ndan sonra ve tan\u0131sal testlerden sonra yap\u0131l\u0131r.\u00a0Fiziki muayene s\u0131ras\u0131nda, <a href=\"https:\/\/annelertoplandik.com\/blog\/cocuklarda-kronik-kabizlik-nedir\/\" class=\"rank-math-link\">\u00e7ocuk<\/a> doktoru \u00e7ocu\u011funuzun tam bir t\u0131bbi ge\u00e7mi\u015fini al\u0131r ve ayr\u0131ca herhangi bir t\u0131bbi problemin aile ge\u00e7mi\u015finde olup olmad\u0131\u011f\u0131n\u0131 sorabilir.<br><br>Spinal musk\u00fcler atrofi tan\u0131s\u0131n\u0131 do\u011frulamak i\u00e7in yap\u0131labilecek tan\u0131sal testler \u015funlard\u0131r:<\/p>\n\n\n\n<ul><li><strong>Genetik testler<\/strong><\/li><\/ul>\n\n\n\n<p>Di\u011fer testler:<\/p>\n\n\n\n<ul><li><strong>Kan testleri<\/strong><\/li><li><strong>Kas biyopsisi:&nbsp;<\/strong>Bir tan\u0131 veya durumu belirlemek ve onaylamak i\u00e7in k\u00fc\u00e7\u00fck&nbsp;bir&nbsp;kas \u00f6rne\u011fi al\u0131n\u0131r ve incelenir.<\/li><li><strong>Elektrodiagnostik \u00c7al\u0131\u015fmalar (EMG \/ sinir iletim \u00e7al\u0131\u015fmas\u0131):<\/strong>&nbsp;Sinirlerin elektriksel aktivitesini \u00f6l\u00e7en, ayr\u0131ca bir kas veya ili\u015fkili sinirlerin i\u015flevini \u00f6l\u00e7en bir testtir.&nbsp;<\/li><\/ul>\n\n\n\n<p>Bilinen bir aile ge\u00e7mi\u015fi varsa veya ebeveynlerin ta\u015f\u0131y\u0131c\u0131 oldu\u011fu biliniyorsa, testler daha erken yap\u0131labilir.&nbsp;Baz\u0131 aileler, fet\u00fcs\u00fcn etkilenip etkilenmedi\u011fini belirlemek i\u00e7in hamilelik s\u0131ras\u0131nda genetik test dahil olmak \u00fczere do\u011fum \u00f6ncesi testlerden ge\u00e7eceklerdir.&nbsp;Bebe\u011fin SMA&#8217;dan etkilenip etkilenmedi\u011fini belirlemek i\u00e7in yenido\u011fanda do\u011fumdan sonra, semptomlar ba\u015flamadan \u00f6nce bile test yap\u0131labilir. \u015e\u00fcphelenildi\u011fi anda veya aile ge\u00e7mi\u015finde varsa SMA i\u00e7in test etmek \u00f6nemlidir, \u00e7\u00fcnk\u00fc erken tedavi rahats\u0131zl\u0131klar\u0131 en aza indirmek i\u00e7in \u00e7ok \u00f6nemlidir.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>SMA tedavisi<\/strong><\/h2>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"603\" src=\"https:\/\/annelertoplandik.com\/blog\/wp-content\/uploads\/2020\/11\/SMA-hastalig\u0306i1.jpg\" alt=\"SMA hastal\u0131g\u0306\u0131\" class=\"wp-image-3355\" srcset=\"https:\/\/annelertoplandik.com\/blog\/wp-content\/uploads\/2020\/11\/SMA-hastalig\u0306i1.jpg 1024w, https:\/\/annelertoplandik.com\/blog\/wp-content\/uploads\/2020\/11\/SMA-hastalig\u0306i1-300x177.jpg 300w, https:\/\/annelertoplandik.com\/blog\/wp-content\/uploads\/2020\/11\/SMA-hastalig\u0306i1-768x452.jpg 768w, https:\/\/annelertoplandik.com\/blog\/wp-content\/uploads\/2020\/11\/SMA-hastalig\u0306i1-696x410.jpg 696w, https:\/\/annelertoplandik.com\/blog\/wp-content\/uploads\/2020\/11\/SMA-hastalig\u0306i1-713x420.jpg 713w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>\u015eu anda SMA&#8217;n\u0131n tedavisi yoktur, ancak \u00e7ocu\u011funuza yard\u0131m etmenin bir\u00e7ok yolu vard\u0131r. Ge\u00e7mi\u015fte, SMA tedavisi g\u00fc\u00e7s\u00fczl\u00fck, beslenme sorunlar\u0131 ve solunum g\u00fc\u00e7l\u00fc\u011f\u00fc komplikasyonlar\u0131n\u0131n y\u00f6netimine dayan\u0131yordu.&nbsp;Bununla birlikte, son y\u0131llarda SMA&#8217;l\u0131 \u00e7ocuklarda g\u00fcc\u00fc, motor i\u015flevi, nefes almay\u0131 ve beslenmeyi iyile\u015ftirdi\u011fi kan\u0131tlanm\u0131\u015f baz\u0131 yeni ila\u00e7lar vard\u0131r.&nbsp;<\/p>\n\n\n\n<p>SMA&#8217;l\u0131 \u00e7ocuklar i\u00e7in t\u0131bbi tedavi, hayatta kalma s\u00fcresini uzatmay\u0131 ve ya\u015fam kalitesini iyile\u015ftirmeyi ama\u00e7lamaktad\u0131r. Yap\u0131labilecek tedavi se\u00e7enekleri \u015funlard\u0131r:&nbsp;<\/p>\n\n\n\n<ul><li>Fizyoterapi, kas fonksiyonunun m\u00fcmk\u00fcn oldu\u011fu kadar uzun s\u00fcre korunmas\u0131na yard\u0131mc\u0131 olur, ancak SMA&#8217;da kaybedilen kas g\u00fcc\u00fcn\u00fc geri kazanamaz.<\/li><li>Baz\u0131 SMA t\u00fcrlerine sahip \u00e7ocuklar yutma g\u00fc\u00e7l\u00fc\u011f\u00fc \u00e7ekebilir ve bir beslenme t\u00fcp\u00fcne veya emmeye ihtiya\u00e7 duyabilir.<\/li><li>SMA&#8217;l\u0131 \u00e7ocuklarda g\u00f6\u011f\u00fcs enfeksiyonlar\u0131 ya\u015fam\u0131 tehdit edebilir.&nbsp;Antibiyotik ve g\u00f6\u011f\u00fcs fizyoterapisi ile h\u0131zl\u0131 bir \u015fekilde tedavi edilmeleri gerekir. &nbsp;<\/li><li>\u00c7ocu\u011funuz solunum g\u00fc\u00e7l\u00fc\u011f\u00fc \u00e7ekiyorsa bir solunum cihaz\u0131 (ventilat\u00f6r) kullanmas\u0131 gerekebilir.&nbsp;&nbsp;<\/li><li>Omurga \u00e7evresindeki kaslarda g\u00fc\u00e7s\u00fczl\u00fck nedeniyle SMA hastal\u0131 olan \u00e7ocuklarda skolyoz (omurga e\u011frili\u011fi) yayg\u0131nd\u0131r.&nbsp;Bazen ameliyat bunu d\u00fczeltmeye yard\u0131mc\u0131 olabilir.<\/li><\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Spinal m\u00fcsk\u00fcler atrofi (SMA), sinir sisteminin kas hareketini kontrol eden k\u0131sm\u0131n\u0131 etkileyen nadir bir genetik bozukluktur. SMA hastal\u0131\u011f\u0131, omurili\u011fin motor sinirlerini (n\u00f6ronlar\u0131) etkiler.&nbsp;Genellikle v\u00fccudumuzu hareket ettirmek istedi\u011fimizde motor sinirler beynimizden gelen mesaj\u0131 kaslar\u0131m\u0131za g\u00f6ndererek kaslara hareket etmelerini s\u00f6yler.&nbsp;SMA&#8217;l\u0131 \u00e7ocuklarda bu mesajlar kaslara ula\u015fmaz.&nbsp;Bu, kas g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fcne, kas hasar\u0131na, kas kayb\u0131na (atrofi) ve sonunda i\u015flev kayb\u0131na neden [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":3354,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"tdm_status":"","tdm_grid_status":"","footnotes":""},"categories":[38],"tags":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.5 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>SMA Hastal\u0131\u011f\u0131 Nedir, Nas\u0131l Anla\u015f\u0131l\u0131r? | Anneler Topland\u0131k<\/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:\/\/annelertoplandik.com\/blog\/sma-hastaligi-nedir-nasil-anlasilir\/\" \/>\n<meta property=\"og:locale\" content=\"tr_TR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"SMA Hastal\u0131\u011f\u0131 Nedir, Nas\u0131l Anla\u015f\u0131l\u0131r? | Anneler Topland\u0131k\" \/>\n<meta property=\"og:description\" content=\"Spinal m\u00fcsk\u00fcler atrofi (SMA), sinir sisteminin kas hareketini kontrol eden k\u0131sm\u0131n\u0131 etkileyen nadir bir genetik bozukluktur. 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