{"id":5961,"date":"2026-02-12T11:16:32","date_gmt":"2026-02-12T09:16:32","guid":{"rendered":"https:\/\/rijetke-bolesti.com\/?p=5961"},"modified":"2026-03-11T14:05:18","modified_gmt":"2026-03-11T12:05:18","slug":"kava-s-rijetkima-spinalne-misicne-atrofije-sma","status":"publish","type":"post","link":"https:\/\/rijetke-bolesti.com\/en\/kava-s-rijetkima-spinalne-misicne-atrofije-sma\/","title":{"rendered":"Kava s rijetkima &#8211; Spinalne mi\u0161i\u0107ne atrofije (SMA)"},"content":{"rendered":"<p><strong>Definicija bolesti<\/strong><\/p>\n\n\n\n<p>Skupina neuromuskularnih poreme\u0107aja koju karakterizira progresivna mi\u0161i\u0107na slabost nastala zbog degeneracije i gubitka donjih motori\u010dkih neurona u kralje\u017eni\u010dnoj mo\u017edini i jezgrama mo\u017edanog debla.<\/p>\n\n\n\n<p><strong>Epidemiologija<\/strong><br>Prevalencija se procjenjuje na oko 1\/30 000.<\/p>\n\n\n\n<p><strong>Klini\u010dki opis<\/strong><br>Definirana su \u010detiri podtipa prema dobi po\u010detka i te\u017eini bolesti: tip 1 (SMA1), najte\u017ei oblik, s po\u010detkom prije navr\u0161enih \u0161est mjeseci \u017eivota; tip 2 (SMA2), s po\u010detkom izme\u0111u 6 i 18 mjeseci; tip 3 (SMA3), s po\u010detkom u djetinjstvu ili adolescenciji; te tip 4 (SMA4), najbla\u017ei oblik, s po\u010detkom u odrasloj dobi.<\/p>\n\n\n\n<p>Svi tipovi karakterizirani su mi\u0161i\u0107nom slabo\u0161\u0107u i atrofijom razli\u010ditog stupnja, osobito zahva\u0107aju\u0107i donje udove i respiratorne mi\u0161i\u0107e. Slabost je gotovo uvijek simetri\u010dna i progresivna. Mogu se pojaviti skolioza, mi\u0161i\u0107ne retrakcije i kontrakture zglobova. Zatvor i gastroezofagealni refluks su \u010desti.<\/p>\n\n\n\n<p><strong>Etiologija<\/strong><br>Oko 95 % slu\u010dajeva SMA uzrokovano je homozigotnim delecijama (egzon 7 ili egzoni 7 i 8) u genu SMN1 (5q12.2\u2013q13.3), koji kodira SMN (survival motor neuron) protein. Identificiran je i drugi gen SMN (SMN2; 5q13.2), koji doprinosi proizvodnji samo oko 10 % punoduljinskog SMN proteina.<\/p>\n\n\n\n<p>Iako postoje odre\u0111ene varijacije, te\u017eina bolesti obrnuto je povezana s brojem kopija gena SMN2, pri \u010demu bolesnici s tri ili \u010detiri kopije \u010de\u0161\u0107e imaju bla\u017ee oblike (SMA3\/4) nego SMA1. Delecije gena NAIP (5q13.1) tako\u0111er su identificirane i mogu imati ulogu u moduliranju te\u017eine bolesti.<\/p>\n\n\n\n<p><strong>Dijagnosti\u010dke metode<\/strong><br>Dijagnoza se temelji na klini\u010dkoj anamnezi i pregledu te se mo\u017ee potvrditi genetskim testiranjem. Tako\u0111er se mogu provesti elektromiografija i biopsija mi\u0161i\u0107a.<\/p>\n\n\n\n<p><strong>Diferencijalna dijagnoza<\/strong><br>Diferencijalne dijagnoze uklju\u010duju amiotrofi\u010dnu lateralnu sklerozu, kongenitalne mi\u0161i\u0107ne distrofije, kongenitalne miopatije, primarnu lateralnu sklerozu, miasteniju gravis i poreme\u0107aje metabolizma ugljikohidrata.<\/p>\n\n\n\n<p><strong>Prenatalna dijagnoza<\/strong><br>Prenatalna dijagnoza mogu\u0107a je molekularnom analizom amniocita ili uzoraka korionskih resica.<\/p>\n\n\n\n<p><strong>Genetsko savjetovanje<\/strong><br>Prijenos delecija SMN1 i NAIP odvija se autosomno recesivno. Oko 2 % slu\u010dajeva uzrokovano je de novo mutacijama. Genetsko savjetovanje treba ponuditi bolesnicima i njihovim obiteljima.<\/p>\n\n\n\n<p><strong>Lije\u010denje i zbrinjavanje<\/strong><\/p>\n\n\n\n<p>U tijeku su klini\u010dka ispitivanja s ciljem pronala\u017eenja potencijalnih lijekova za SMA, uglavnom usmjerenih na pove\u0107anje razine punoduljinskog SMN proteina. Trenutno je lije\u010denje simptomatsko i uklju\u010duje multidisciplinarni pristup s ciljem pobolj\u0161anja kvalitete \u017eivota.<\/p>\n\n\n\n<p>Potrebne su fizioterapija te radna i respiratorna terapija. Mo\u017ee biti potrebna neinvazivna ventilacija i gastrostomija. U slu\u010daju plu\u0107ne infekcije primjenjuje se antibiotska terapija. Skolioza i zglobne deformacije mogu zahtijevati kirur\u0161ku korekciju. Bolesnici mogu trebati invalidska kolica ili ortopedski steznik\/korset za potporu.<\/p>\n\n\n\n<p><strong>Prognoza<\/strong><br>Prognoza ovisi o te\u017eini bolesti, koja op\u0107enito korelira s dobi po\u010detka: oblici s ranijim po\u010detkom obi\u010dno imaju lo\u0161iju prognozu, dok o\u010dekivano trajanje \u017eivota u kasnijim oblicima mo\u017ee biti blizu normalnog. Smrt mo\u017ee nastupiti zbog respiratorne insuficijencije i infekcija.<\/p>\n\n\n\n<p>Izvor: Orphanet (2026.) <a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/70\">https:\/\/www.orpha.net\/en\/disease\/detail\/70<\/a><\/p>\n\n\n\n<div data-wp-interactive=\"core\/file\" class=\"wp-block-file\"><object data-wp-bind--hidden=\"!state.hasPdfPreview\" hidden class=\"wp-block-file__embed\" data=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Spinraza-1.pdf\" type=\"application\/pdf\" style=\"width:100%;height:600px\" aria-label=\"Embed of Tekst je sastavila Studentska sekcija za rijetke bolesti Medicinskog fakulteta Sveu\u010dili\u0161ta u Zagrebu s ciljem informiranja, edukacije i podizanja svijesti o temama vezanim uz rijetke bolesti..\"><\/object><a id=\"wp-block-file--media-351a6bc9-ccab-4062-8a02-11dfbc6836d1\" href=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Spinraza-1.pdf\">Tekst je sastavila Studentska sekcija za rijetke bolesti Medicinskog fakulteta Sveu\u010dili\u0161ta u Zagrebu s ciljem informiranja, edukacije i podizanja svijesti o temama vezanim uz rijetke bolesti.<\/a><a href=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Spinraza-1.pdf\" class=\"wp-block-file__button wp-element-button\" download aria-describedby=\"wp-block-file--media-351a6bc9-ccab-4062-8a02-11dfbc6836d1\">Download<\/a><\/div>\n\n\n\n<p><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"724\" height=\"1024\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-724x1024.png\" alt=\"\" class=\"wp-image-5962\" style=\"width:548px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-724x1024.png 724w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-212x300.png 212w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-768x1086.png 768w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-1086x1536.png 1086w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-1448x2048.png 1448w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final-8x12.png 8w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/02\/Vizual-Kava-s-rijetkima_final.png 1587w\" sizes=\"auto, (max-width: 724px) 100vw, 724px\" \/><\/figure>\n<\/div>\n\n\n<p><\/p>","protected":false},"excerpt":{"rendered":"<p>Definicija bolesti Skupina neuromuskularnih poreme\u0107aja koju karakterizira progresivna mi\u0161i\u0107na slabost nastala zbog degeneracije i gubitka donjih motori\u010dkih neurona u kralje\u017eni\u010dnoj mo\u017edini i jezgrama mo\u017edanog debla. EpidemiologijaPrevalencija se procjenjuje na oko 1\/30 000. Klini\u010dki opisDefinirana su \u010detiri podtipa prema dobi po\u010detka i te\u017eini bolesti: tip 1&#8230;<\/p>","protected":false},"author":3,"featured_media":5966,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-5961","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Kava s rijetkima - Spinalne mi\u0161i\u0107ne atrofije (SMA) - Hrvatski savez za rijetke bolesti<\/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:\/\/rijetke-bolesti.com\/en\/kava-s-rijetkima-spinalne-misicne-atrofije-sma\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Kava s rijetkima - Spinalne mi\u0161i\u0107ne atrofije (SMA) - Hrvatski savez za rijetke bolesti\" \/>\n<meta property=\"og:description\" content=\"Definicija bolesti Skupina neuromuskularnih poreme\u0107aja koju karakterizira progresivna mi\u0161i\u0107na slabost nastala zbog degeneracije i gubitka donjih motori\u010dkih neurona u kralje\u017eni\u010dnoj mo\u017edini i jezgrama mo\u017edanog debla. EpidemiologijaPrevalencija se procjenjuje na oko 1\/30 000. 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