{"id":415,"date":"2023-11-02T21:12:11","date_gmt":"2023-11-02T18:12:11","guid":{"rendered":"https:\/\/www.hurremsultanhastanesi.com.tr\/?p=415"},"modified":"2025-09-22T10:36:11","modified_gmt":"2025-09-22T07:36:11","slug":"testul-sma","status":"publish","type":"post","link":"https:\/\/www.aktifinternational.com\/ro\/testul-sma\/","title":{"rendered":"Testul SMA"},"content":{"rendered":"<p>Timp de lectur\u0103 estimat: 3 minute \u0219i 28 secunde<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Tabel de con\u021binut<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"\u0130\u00e7indekiler Tablosunu A\u00e7\/Kapat\"><span class=\"ez-toc-js-icon-con\"><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><\/span><\/a><\/span><\/div>\n<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:\/\/www.aktifinternational.com\/ro\/testul-sma\/#Testul_SMA\" >Testul SMA<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.aktifinternational.com\/ro\/testul-sma\/#Intelegerea_atrofiei_musculare_spinale\" >\u00cen\u021belegerea atrofiei musculare spinale<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.aktifinternational.com\/ro\/testul-sma\/#Intrebari_frecvente\" >\u00centreb\u0103ri frecvente<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.aktifinternational.com\/ro\/testul-sma\/#Ce_este_atrofia_musculara_spinala_AMS\" >Ce este atrofia muscular\u0103 spinal\u0103 (AMS)?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.aktifinternational.com\/ro\/testul-sma\/#Cum_se_efectueaza_testul_SMA\" >Cum se efectueaz\u0103 testul SMA?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.aktifinternational.com\/ro\/testul-sma\/#Cine_ar_trebui_sa_ia_in_considerare_efectuarea_unui_test_SMA\" >Cine ar trebui s\u0103 ia \u00een considerare efectuarea unui test SMA?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.aktifinternational.com\/ro\/testul-sma\/#Care_sunt_diferitele_tipuri_de_AMS\" >Care sunt diferitele tipuri de AMS?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.aktifinternational.com\/ro\/testul-sma\/#Care_sunt_implicatiile_unui_rezultat_pozitiv_la_testul_SMA\" >Care sunt implica\u021biile unui rezultat pozitiv la testul SMA?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.aktifinternational.com\/ro\/testul-sma\/#Cum_poate_Aktif_International_Hospitals_sa_va_ajute_cu_testarea_SMA\" >Cum poate Aktif International Hospitals s\u0103 v\u0103 ajute cu testarea SMA?<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"Testul_SMA\"><\/span>Testul SMA<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<h3><span class=\"ez-toc-section\" id=\"Intelegerea_atrofiei_musculare_spinale\"><\/span>\u00cen\u021belegerea atrofiei musculare spinale<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>Testul SMA, sau testul pentru atrofia muscular\u0103 spinal\u0103, este un instrument de screening diagnostic utilizat pentru a detecta muta\u021biile genetice asociate cu atrofia muscular\u0103 spinal\u0103, o afec\u021biune neuromuscular\u0103 rar\u0103 care afecteaz\u0103 celulele nervoase motorii din m\u0103duva spin\u0103rii. La Aktif International Hospitals, oferim testul SMA ca parte a serviciilor noastre complete de screening genetic, permi\u021b\u00e2nd persoanelor \u0219i familiilor s\u0103 \u00ee\u0219i identifice riscul de a purta sau dezvolta aceast\u0103 afec\u021biune ereditar\u0103.<\/p>\n<h2 style=\"text-align: center;\"><span class=\"ez-toc-section\" id=\"Intrebari_frecvente\"><\/span>\u00centreb\u0103ri frecvente<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<h3><span class=\"ez-toc-section\" id=\"Ce_este_atrofia_musculara_spinala_AMS\"><\/span>Ce este atrofia muscular\u0103 spinal\u0103 (AMS)?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>Atrofia muscular\u0103 spinal\u0103 (AMS) este o afec\u021biune genetic\u0103 caracterizat\u0103 prin pierderea progresiv\u0103 a neuronilor motori din m\u0103duva spin\u0103rii \u0219i trunchiul cerebral inferior, ceea ce duce la sl\u0103biciune \u0219i atrofie muscular\u0103. AMS este cauzat\u0103 de muta\u021bii \u00een gena neuronului motor de supravie\u021buire 1 (SMN1), care joac\u0103 un rol crucial \u00een func\u021bia \u0219i supravie\u021buirea neuronilor motori.<\/p>\n<h3><span class=\"ez-toc-section\" id=\"Cum_se_efectueaza_testul_SMA\"><\/span>Cum se efectueaz\u0103 testul SMA?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>Testul SMA implic\u0103 de obicei o simpl\u0103 prob\u0103 de s\u00e2nge sau de saliv\u0103, care este recoltat\u0103 \u0219i trimis\u0103 unui laborator pentru analiz\u0103 genetic\u0103. Laboratorul va examina proba pentru muta\u021bii genetice specifice \u00een gena SMN1 asociat\u0103 cu atrofia muscular\u0103 spinal\u0103. Rezultatele sunt de obicei disponibile \u00een c\u00e2teva s\u0103pt\u0103m\u00e2ni, \u00een func\u021bie de metoda de testare utilizat\u0103 \u0219i de timpul de procesare al laboratorului.<\/p>\n<h3><span class=\"ez-toc-section\" id=\"Cine_ar_trebui_sa_ia_in_considerare_efectuarea_unui_test_SMA\"><\/span>Cine ar trebui s\u0103 ia \u00een considerare efectuarea unui test SMA?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>Testarea SMA este recomandat\u0103 persoanelor care au un istoric familial de atrofie muscular\u0103 spinal\u0103 sau celor care sunt purt\u0103tori ai muta\u021biei genetice. \u00cen plus, screeningul prenatal pentru SMA poate fi oferit cuplurilor cu un istoric familial al afec\u021biunii sau celor din anumite medii etnice cu o frecven\u021b\u0103 mai mare a purt\u0103torilor. Detectarea precoce a muta\u021biilor SMA poate ajuta persoanele s\u0103 ia decizii \u00een cuno\u0219tin\u021b\u0103 de cauz\u0103 cu privire la planificarea familial\u0103 \u0219i managementul medical.<\/p>\n<h3><span class=\"ez-toc-section\" id=\"Care_sunt_diferitele_tipuri_de_AMS\"><\/span>Care sunt diferitele tipuri de AMS?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>Exist\u0103 mai multe tipuri de atrofie muscular\u0103 spinal\u0103, care sunt clasificate \u00een func\u021bie de v\u00e2rsta de debut \u0219i de severitatea simptomelor:<\/p>\n<ul>\n<li>AMS de tip 1 (cunoscut\u0103 \u0219i ca boala Werdnig-Hoffmann) se manifest\u0103 de obicei \u00een primele luni de via\u021b\u0103 \u0219i este cea mai sever\u0103 form\u0103 a afec\u021biunii, caracterizat\u0103 prin sl\u0103biciune muscular\u0103 profund\u0103 \u0219i dificult\u0103\u021bi respiratorii.<\/li>\n<li>AMS de tip 2 se manifest\u0103 de obicei \u00eentre 6 \u0219i 18 luni de via\u021b\u0103 \u0219i se caracterizeaz\u0103 prin sl\u0103biciune muscular\u0103 progresiv\u0103, \u00eent\u00e2rzieri motorii \u0219i poten\u021biale complica\u021bii respiratorii.<\/li>\n<li>AMS de tip 3 (cunoscut\u0103 \u0219i sub numele de boala Kugelberg-Welander) se manifest\u0103 de obicei dup\u0103 v\u00e2rsta de 18 luni \u0219i este mai u\u0219oar\u0103 ca severitate, cu o progresie mai lent\u0103 a simptomelor \u0219i o func\u021bie motorie p\u0103strat\u0103.<\/li>\n<li>AMS de tip 4 (AMS la adul\u021bi) este cea mai rar\u0103 form\u0103 a afec\u021biunii \u0219i se manifest\u0103 de obicei \u00een adolescen\u021b\u0103 sau la v\u00e2rsta adult\u0103, cu simptome mai u\u0219oare, precum sl\u0103biciune muscular\u0103 \u0219i oboseal\u0103.<\/li>\n<\/ul>\n<h3><span class=\"ez-toc-section\" id=\"Care_sunt_implicatiile_unui_rezultat_pozitiv_la_testul_SMA\"><\/span>Care sunt implica\u021biile unui rezultat pozitiv la testul SMA?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>Un rezultat pozitiv la testul SMA indic\u0103 prezen\u021ba unor muta\u021bii genetice asociate cu atrofia muscular\u0103 spinal\u0103. \u00cen func\u021bie de muta\u021biile specifice identificate \u0219i de circumstan\u021bele individuale, persoanele pot fi expuse riscului de a dezvolta ele \u00eensele AMS sau de a transmite muta\u021bia genetic\u0103 copiilor lor. Consilierea genetic\u0103 este recomandat\u0103 persoanelor cu rezultate pozitive la testul SMA pentru a discuta implica\u021biile, modelele de mo\u0219tenire \u0219i op\u021biunile reproductive disponibile.<\/p>\n<h3><span class=\"ez-toc-section\" id=\"Cum_poate_Aktif_International_Hospitals_sa_va_ajute_cu_testarea_SMA\"><\/span>Cum poate Aktif International Hospitals s\u0103 v\u0103 ajute cu testarea SMA?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>La Aktif International Hospitals, echipa noastr\u0103 de consilieri genetici \u0219i medici speciali\u0219ti este dedicat\u0103 furniz\u0103rii de servicii complete de testare \u0219i consiliere genetic\u0103, inclusiv testarea SMA. Oferim tehnologii de testare genetic\u0103 de ultim\u0103 or\u0103 \u0219i \u00eengrijire personalizat\u0103 persoanelor \u0219i familiilor care doresc s\u0103 \u00ee\u0219i \u00een\u021beleag\u0103 factorii de risc genetic \u0219i s\u0103 ia decizii \u00een cuno\u0219tin\u021b\u0103 de cauz\u0103 cu privire la s\u0103n\u0103tatea lor. Dac\u0103 lua\u021bi \u00een considerare testarea SMA sau ave\u021bi \u00eentreb\u0103ri despre screeningul genetic, suntem aici pentru a v\u0103 ajuta. Programa\u021bi ast\u0103zi o consulta\u021bie cu unul dintre exper\u021bii no\u0219tri.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Timp de lectur\u0103 estimat: 3 minute \u0219i 28 secunde Testul SMA \u00cen\u021belegerea atrofiei musculare spinale Testul SMA, sau testul pentru atrofia muscular\u0103 spinal\u0103, este un instrument de screening diagnostic utilizat pentru a detecta muta\u021biile genetice asociate cu atrofia muscular\u0103 spinal\u0103, o afec\u021biune neuromuscular\u0103 rar\u0103 care afecteaz\u0103 celulele nervoase motorii din m\u0103duva spin\u0103rii. La Aktif International [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":417,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6],"tags":[],"class_list":["post-415","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ilgi-alan"],"_links":{"self":[{"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/posts\/415","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/comments?post=415"}],"version-history":[{"count":12,"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/posts\/415\/revisions"}],"predecessor-version":[{"id":12026,"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/posts\/415\/revisions\/12026"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/media\/417"}],"wp:attachment":[{"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/media?parent=415"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/categories?post=415"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.aktifinternational.com\/ro\/wp-json\/wp\/v2\/tags?post=415"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}