{"id":677614,"date":"2026-02-19T06:56:04","date_gmt":"2026-02-19T06:56:04","guid":{"rendered":"https:\/\/microscopemedia.com\/?p=677614"},"modified":"2026-02-19T06:56:04","modified_gmt":"2026-02-19T06:56:04","slug":"o-forma-simplificata-a-tratamentului-atrofiei-musculare-spinale-este-disponibila-acum-si-in-romania","status":"publish","type":"post","link":"https:\/\/microscopemedia.com\/?p=677614","title":{"rendered":"O form\u0103 simplificat\u0103 a tratamentului atrofiei musculare spinale este disponibil\u0103 acum \u0219i \u00een Rom\u00e2nia"},"content":{"rendered":"<div><img decoding=\"async\" src=\"https:\/\/microscopemedia.com\/wp-content\/uploads\/2026\/02\/o-forma-simplificata-a-tratamentului-atrofiei-musculare-spinale-este-disponibila-acum-si-in-romania.jpg\" class=\"ff-og-image-inserted\"><\/div>\n<p id=\"p-0\">Noua op\u021biune de tratament sub forma de comprimate filmate (tablete) se administreaz\u0103 oral, zilnic, la domiciliu, f\u0103r\u0103 a necesita proceduri complexe. Aceasta este indicat\u0103 pacien\u021bilor cu v\u00e2rsta de doi ani sau peste, care c\u00e2nt\u0103resc 20 kg sau mai mult, conform Rezumatului Caracteristicilor Produsului.<\/p>\n<p id=\"p-1\">Atrofia muscular\u0103 spinal\u0103 (AMS) este o boal\u0103 genetic\u0103 rar\u0103, progresiv\u0103, caracterizat\u0103 prin degenerarea neuronilor motori din m\u0103duva spin\u0103rii, ceea ce conduce la sl\u0103biciune muscular\u0103 \u0219i pierderea progresiv\u0103 a func\u021biei motorii.<\/p>\n<p id=\"p-2\">La nivel global, AMS afecteaz\u0103 aproximativ 1 din 10.000 de nou-n\u0103scu\u021bi, fiind una dintre principalele cauze genetice de mortalitate infantil\u0103.<\/p>\n<h2 id=\"chapter-0\">Ce \u00eenseamn\u0103 AMS?<\/h2>\n<p id=\"p-3\">AMS este cauzat\u0103 de o muta\u021bie a genei SMN1, care duce la un deficit al proteinei de supravie\u021buire a neuronilor motori (SMN), esen\u021bial\u0103 pentru func\u021bionarea sistemului nervos. Lipsa acestei proteine determin\u0103 afectarea progresiv\u0103 a mu\u0219chilor, cu impact semnificativ asupra mobilit\u0103\u021bii \u015fi respira\u021biei.<\/p>\n<p id=\"p-4\">\u00cen func\u021bie de v\u00e2rsta de debut \u0219i de severitatea simptomelor, boala se manifest\u0103 sub mai multe forme clinice, de la formele foarte severe care apar \u00een primele luni de via\u021b\u0103, p\u00e2n\u0103 la forme cu debut la v\u00e2rsta adult\u0103, cu evolu\u021bie mai lent\u0103.<\/p>\n<p id=\"p-5\">\u00cen Rom\u00e2nia, medicamentul este disponibil \u00eencep\u00e2nd cu anul 2022 sub forma farmaceutic\u0103 solu\u0163ie oral\u0103, care necesit\u0103 preparare \u00een farmacie de c\u0103tre un profesionist \u00een domeniul s\u0103n\u0103t\u0103\u0163ii \u015fi necesit\u0103 refrigerare. Aceast\u0103 form\u0103 farmaceutic\u0103 va r\u0103m\u00e2ne \u00een continuare disponibil\u0103 pacien\u021bilor.<\/p>\n<h2 id=\"chapter-1\">C\u00e2\u021bi pacien\u021bi au AMS \u00een Rom\u00e2nia?<\/h2>\n<p id=\"p-6\">Tratamentul, produs de compania Roche, a fost utilizat p\u00e2n\u0103 \u00een prezent de peste 21.000 de pacien\u021bi la nivel global. \u00cen Rom\u00e2nia nu exist\u0103 date de prevalen\u021b\u0103 pentru aceast\u0103 boal\u0103, \u00eens\u0103 potrivit datelor Casei Na\u021bionale de Asigur\u0103ri de S\u0103n\u0103tate exist\u0103 aproximativ 250-280 de pacien\u021bi cu AMS \u00een tratament, majoritatea fiind copii. Tratamentul este disponibil gratuit pacien\u021bilor diagnostica\u021bi cu aceast\u0103 boal\u0103, \u00een cadrul Programului Na\u021bional de Boli Rare.<\/p>\n<p id=\"p-7\">Administrarea c\u00e2t mai precoce, ideal \u00een faza presimptomatic\u0103, a tratamentului precum \u0219i \u00eengrijirea conform standardelor interna\u021bionale pot am\u00e2na debutul bolii \u0219i diminua semnificativ severitatea simptomelor, contribuind decisiv la \u00eembun\u0103t\u0103\u021birea prognosticului. Implementarea unui program na\u021bional de screening neonatal ar putea permite diagnosticarea precoce \u0219i ini\u021bierea tratamentului \u00eenainte de apari\u021bia simptomelor.<\/p>\n<p id=\"p-8\">\u201eAtrofia Muscular\u0103 Spinal\u0103 este o afec\u021biune care necesit\u0103 o \u00eengrijire complex\u0103, multidisciplinar\u0103. Progresele terapeutice, inclusiv tratamentele non-invazive cu administrare simplificat\u0103, pot avea un impact semnificativ asupra \u00eembun\u0103t\u0103\u021birii calit\u0103\u021bii vie\u021bii pacien\u021bilor. Cre\u0219terea nivelului de independen\u021b\u0103 \u00een via\u021ba de zi cu zi contribuie la reducerea poverii \u00eengrijirii medicale \u0219i a apar\u021bin\u0103torilor, sus\u021bin\u00e2nd un management mai eficient al bolii.\u201d, a spus \u0219ef lucr\u0103ri dr. Crisanda V\u00eelciu, de la Institutul Clinic Fundeni, Bucure\u015fti.<\/p>\n<p id=\"p-9\">&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Noua op\u021biune de tratament sub forma de comprimate filmate (tablete) se administreaz\u0103 oral, zilnic, la domiciliu, f\u0103r\u0103 a necesita proceduri complexe. Aceasta este indicat\u0103 pacien\u021bilor cu v\u00e2rsta de doi ani &hellip; <a href=\"https:\/\/microscopemedia.com\/?p=677614\" class=\"more-link\">Read More<\/a><\/p>\n","protected":false},"author":1,"featured_media":677615,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"Default","format":"standard","meta":[],"categories":[1],"tags":[],"_links":{"self":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/posts\/677614"}],"collection":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=677614"}],"version-history":[{"count":0,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/posts\/677614\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=\/wp\/v2\/media\/677615"}],"wp:attachment":[{"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=677614"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=677614"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/microscopemedia.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=677614"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}