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10.5596C12.2636 10.5596 12.1176 10.349 12.0783 9.37285H14.4503C14.9976 9.37285 15.2418 9.15664 15.2418 8.67213C15.2418 7.64237 15.0266 6.27171 13.165 6.27171C11.5931 6.27171 10.8919 7.12946 10.8919 9.05247C10.8919 10.9297 11.5452 11.6281 13.3016 11.6281C14.0318 11.6281 14.6097 11.5152 14.8366 11.4111C14.9811 11.3495 15.1138 11.2572 15.1138 11V10.8122C15.113 10.5699 14.9748 10.4239 14.7432 10.4239Z" fill="currentColor"></path><path d="M12.0846 8.41359C12.1301 7.57715 12.4701 7.20312 13.1831 7.20312H13.1838C13.8614 7.20312 14.1661 7.56532 14.1975 8.41202L12.0846 8.41359Z" fill="currentColor"></path><path d="M31.4197 13.2932H25.348L23.7136 18.0002H20.0957L26.4898 0.198242H30.7749L37.0436 18.0002H33.1032L31.4197 13.2932ZM28.4689 3.60924L26.1405 10.5302H30.6719L28.4689 3.60924Z" fill="currentColor"></path><path d="M49.178 18L45.1885 11.925H42.4616V18H38.9421V0.621C38.9421 0.621 41.1944 0 45.2332 0C49.8676 0 52.6393 1.62 52.6393 5.2515C52.6393 8.9595 50.3601 10.5525 48.7258 11.277L53.3826 18H49.178ZM42.466 9.1125H46.4556C48.1661 8.3925 48.9586 7.47 48.9586 5.6025C48.9586 3.6585 47.5706 2.889 45.2914 2.889C43.8541 2.889 42.466 3.1365 42.466 3.1365V9.1125Z" fill="currentColor"></path><path d="M55.4691 17.9996V0.24707H67.5319V3.25757H59.0109V7.71257H66.3677V10.6016H59.0109V14.9846H67.7558V17.9996H55.4691Z" fill="currentColor"></path><path d="M70.3842 17.9996V0.24707H82.4469V3.25757H73.926V7.71257H81.2828V10.6016H73.926V14.9846H82.6708V17.9996H70.3842Z" fill="currentColor"></path><path d="M88.7872 17.9996H85.2947V0.24707H88.5633L97.1111 11.4746V0.24707H100.631V17.9996H97.9798L88.7872 6.20057V17.9996Z" fill="currentColor"></path><path d="M113.831 13.2932H107.759L106.129 18.0002H102.511L108.901 0.198242H113.186L119.455 18.0002H115.514L113.831 13.2932ZM110.884 3.60924L108.556 10.5302H113.087L110.884 3.60924Z" fill="currentColor"></path></svg><p class="_1m3quf82 fck75q2">Sarjat. 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1-1.592-.981l.5-2.597.014-.062c.23-.883.58-1.911.986-2.865.4-.94.88-1.876 1.387-2.532.964-1.246 2.07-2.138 3.405-2.709 1.057-.45 2.219-.684 3.508-.76V4a1 1 0 0 1 .612-.922Zm1.388 3.298v3.48h-1c-1.529 0-2.727.202-3.722.627-.984.42-1.826 1.081-2.609 2.093-.351.454-.753 1.206-1.129 2.09a19.46 19.46 0 0 0-.874 2.525l.277-.213c2.023-1.559 4.445-2.798 7.028-2.833h2.029v3.479L19.57 12l-5.752-5.624Z" fill="currentColor"></path></svg></span></button></div></div></header><div id="yle__contentAnchor" class="GridSystem-sc-39885cb3-2 dDfYFm"><div class="GridSystem__GridRow-sc-39885cb3-1 ArticlePage__ArticleRow-sc-207cd0a6-2 ilNPAE kmqNop"><main class="ArticlePage__ArticlePageMainColumn-sc-207cd0a6-0 hEBfhM"><div class="GridSystem__GridCell-sc-39885cb3-0 ArticlePage__ArticleGridCell-sc-207cd0a6-1 cQGuBX dHcPEp"><div class="ArticleWrapper__Wrapper-sc-a4a7550e-0 hqZmnv"><article class="yle__article arkki-theme-default" data-vrsproduct="uutiset"><header class="yle__article__header"><div class="aw-1ag6w51 nvljT"><a href="/web/20240205040943/https://yle.fi/t/18-214540/fi" aria-label="Lisää artikkeleita aiheesta Lääkkeet" class="aw-l7odld jXfkxq">Lääkkeet</a></div><h1 class="sc-aXZVg cZXpWU yle__article__heading yle__article__heading--1">Suomen kalleimman Kela-korvauslääkkeen myyntilupa raukeaa</h1><p class="aw-1gybjub aw-5vja16 jxdWmn eeXVLF yle__article__paragraph">Harvinaiseen lihastautiin käytetty lääke on ollut ehdollisen myyntiluvan turvin määrättävissä Duchennen lihasdystrofiaa sairastaville. Lääkevirasto teki päätöksen uudelleenarvioinnin jälkeen.</p><div class="aw-e30oo3 blLbha"></div><figure class="aw-u5oz0a clzEhy yle__article__figure"><script type="application/ld+json">{"@id":"74-20072884","@context":"https://web.archive.org/web/20240205040943/https://schema.org","image":{"@type":"ImageObject","description":"Duchennen lihasdystrofiaa sairastava joutuu pyörätuoliin usein jo 10–15-vuotiaana. Vain pojat sairastuvat tautiin vakavasti. Kuvituskuva.","copyrightHolder":"Hilma Toivonen / Yle","url":"https://web.archive.org/web/20240205040943/https://images.cdn.yle.fi/image/upload/ar_1.4998870566975377,c_fill,g_faces,h_800,w_1200/dpr_1.0/q_auto:eco/f_auto/fl_lossy/39-928482623098fb62473","keywords":"asumispalvelut,Vammaistuki,vammaisten asema,Fyysinen vammaisuus,vammaishuolto,Vammaisten oikeudet,vammaisuus,vammaiset,vammaispalvelut,sosiaalityö,väestönsuojat,väestönsuojelu,yleiset väestönsuojat,väestönsuojeluun varautuminen"}}</script><div class="aw-1a00tic Rkven"><div class="aw-1qvmjke bKIcxT"><div class="aw-1njknqq euollB"><picture><source data-testid="source-for-S" srcset="https://web.archive.org/web/20240205040943im_/https://images.cdn.yle.fi/image/upload/ar_1.4998870566975377,c_fill,g_faces,h_800,w_1200/dpr_2.0/q_auto:eco/f_auto/fl_lossy/v1647352716/39-928482623098fb62473 2x, https://web.archive.org/web/20240205040943im_/https://images.cdn.yle.fi/image/upload/ar_1.4998870566975377,c_fill,g_faces,h_800,w_1200/dpr_1.0/q_auto:eco/f_auto/fl_lossy/v1647352716/39-928482623098fb62473 1x"/><img alt="Lähikuva pyörätuolin pyöristä. " src="https://web.archive.org/web/20240205040943im_/https://images.cdn.yle.fi/image/upload/c_crop,h_3717,w_6623,x_0,y_0/ar_1.7777777777777777,c_fill,g_faces,h_675,w_1200/dpr_1.0/q_auto:eco/f_auto/fl_lossy/v1647352716/39-928482623098fb62473" class="aw-1l9m598 bTKagC"/></picture></div><div class="aw-45s348 glxCAO"><button aria-disabled="false" class="Buttonstyles__ButtonBase-sc-17sr1bx-0 Buttonstyles__ButtonSecondary-sc-17sr1bx-2 blJlbw iLYbQX"><span class="Buttonstyles__TextWrapper-sc-17sr1bx-7 kWJvkV yds-button__content">Avaa kuvien katselu</span></button></div></div></div><figcaption class="aw-kr26k0 iEoONW"><span>Duchennen lihasdystrofiaa sairastava joutuu pyörätuoliin usein jo 10–15-vuotiaana. Vain pojat sairastuvat tautiin vakavasti. Kuvituskuva.</span><span> Kuva: Hilma Toivonen / Yle</span></figcaption></figure><div class="aw-1wk2icm iaIVgA"><div class="aw-qww0lc eFtfQt"><div class="aw-x5rn7a iKNQRH"><span class="aw-z7z0zi hEWAhM">Toni Joukanen</span></div></div></div><div class="aw-1hwlbbb iumvhG"><div class="aw-64d2lh cPAYLb"><div class="aw-kzjed4 dgiUVP yle__article__date"><time class="aw-lsqctp jPSFYl yle__article__date--published" datetime="2024-02-04T19:32:37+02:00">4.2. 19:32</time></div></div><a href="https://web.archive.org/web/20240205040943/https://yle.onelink.me/46xJ/07zyq6zz?deep_link_sub1=74-20072884" class="aw-pqa0kd GtYAc">Avaa Yle-sovelluksessa<svg width="24" height="24" viewbox="0 0 24 24" fill="none" aria-hidden="true"><path d="M15 2a1 1 0 1 0 0 2h3.586l-9.293 9.293a1 1 0 1 0 1.414 1.414L20 5.414V9a1 1 0 1 0 2 0V3a1 1 0 0 0-1-1h-6ZM5 7a1 1 0 0 0-1 1v11a1 1 0 0 0 1 1h11a1 1 0 0 0 1-1v-6a1 1 0 0 1 2 0v6a3 3 0 0 1-3 3H5a3 3 0 0 1-3-3V8a3 3 0 0 1 3-3h6a1 1 0 1 1 0 2H5Z" fill="currentColor"></path></svg></a><div class="aw-itub5i eehAxh"><div><button aria-label="Jaa artikkeli" aria-disabled="false" id="share-menu-button" aria-haspopup="true" class="Buttonstyles__ButtonBase-sc-17sr1bx-0 Buttonstyles__ButtonText-sc-17sr1bx-3 jrqhnK kvhUhF"><span class="Buttonstyles__iconSize-sc-17sr1bx-4 Buttonstyles__IconWrapper-sc-17sr1bx-6 cazOWd dPcqZv yds-button__icon"><svg width="24" height="24" viewbox="0 0 24 24" fill="none" aria-hidden="true" class="aw-wi5224 fZrvxl"><path fill-rule="evenodd" clip-rule="evenodd" d="M12.43 3.078a1 1 0 0 1 1.087.207l8.182 8a1 1 0 0 1 0 1.43l-8.182 8a1 1 0 0 1-1.7-.715v-3.855h-.008c-1.968.029-3.972.988-5.827 2.417L3.61 20.389a1 1 0 0 1-1.592-.981l.5-2.597.014-.062c.23-.883.58-1.911.986-2.865.4-.94.88-1.876 1.387-2.532.964-1.246 2.07-2.138 3.405-2.709 1.057-.45 2.219-.684 3.508-.76V4a1 1 0 0 1 .612-.922Zm1.388 3.298v3.48h-1c-1.529 0-2.727.202-3.722.627-.984.42-1.826 1.081-2.609 2.093-.351.454-.753 1.206-1.129 2.09a19.46 19.46 0 0 0-.874 2.525l.277-.213c2.023-1.559 4.445-2.798 7.028-2.833h2.029v3.479L19.57 12l-5.752-5.624Z" fill="currentColor"></path></svg></span><span class="Buttonstyles__TextWrapper-sc-17sr1bx-7 WDnuQ yds-button__text">Jaa</span></button></div></div></div></header><section class="yle__article__content"><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Euroopan lääkevirasto (EMA) on vahvistanut kantansa olla suosittamatta ehdollisen myyntiluvan uudistamista lihastautilääke Translarnalle (atalureeni) EU:n alueelle, <a class="aw-iao6s4 drtaeR yle__article__link" href="https://web.archive.org/web/20240205040943/https://fimea.fi/-/euroopan-laakevirasto-ei-suosita-lihastautilaake-translarnan-ehdollisen-myyntiluvan-uudistamista" role="link">tiedottaa</a> Lääkealan turvallisuus- ja kehittämiskeskus Fimea.</p><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Asiasta päättää Euroopan lääkeviraston suosituksesta Euroopan komissio, jolloin myyntilupa raukeaa yhtä aikaa kaikissa EU-maissa, myös Suomessa.</p><h2 class="sc-gEvEer kGTkjt yle__article__heading yle__article__heading--2">Suomessa kuusi lapsipotilasta, kustannukset miljoonia euroja</h2><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Translarna-lääke on ollut ehdollisen myyntiluvan turvin käytettävissä niille potilaille, jotka sairastavat Duchennen lihasdystrofiaa (DMD) ja kykenevät kävelemään omin avuin.</p><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Viime vuoden lopulla <a class="aw-iao6s4 drtaeR yle__article__link" href="https://web.archive.org/web/20240205040943/https://yle.fi/a/74-20058198" role="link">uutisoitiin</a>, että Duchennen lihasdystrofiaan käytettävä atalureeni on ollut Suomen kallein Kela-korvattava lääke. Lääkkeen kustannukset ovat olleet yli kolme miljoonaa euroa ja lääkkeestä hyötyviä lapsipotilaita on ollut kuusi.</p><h2 class="sc-gEvEer kGTkjt yle__article__heading yle__article__heading--2">Edellytykset myyntiluvan uudistamiseen eivät täyty</h2><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph"><a class="aw-iao6s4 drtaeR yle__article__link" href="https://web.archive.org/web/20240205040943/https://yle.fi/a/74-20059990" role="link">Aiemmin on kerrottu</a>, että EMA päätti jo <a class="aw-iao6s4 drtaeR yle__article__link" href="https://web.archive.org/web/20240205040943/https://www.ema.europa.eu/en/news/ema-recommends-non-renewal-authorisation-duchenne-muscular-dystrophy-medicine-translarna" role="link">syyskuussa</a>, että lääkkeen myyntilupaa ei jatketa, koska EMA:n mukaan sen vaikutusta ei ole pystytty näyttämään toteen.</p><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Sen jälkeen lääkeyhtiö teki valituksen EMA:n päätöksestä ja pyysi asian uudelleenkäsittelyä.</p><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Tämän johdosta EMA:n Lääkevalmistekomitean (CHMP) <a class="aw-iao6s4 drtaeR yle__article__link" href="https://web.archive.org/web/20240205040943/https://www.ema.europa.eu/en/news/ema-confirms-recommendation-non-renewal-authorisation-duchenne-muscular-dystrophy-medicine-translarna" role="link">uusinta päätöstä</a> edelsi huolellinen uudelleenarviointi, jossa arvioitiin Translarnan hyödyt ja haitat uudestaan kaiken myyntiluvanhaltijan toimittaman tieteellisen tutkimustiedon pohjalta.</p><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Kaiken saatavilla olevan tutkimustiedon arvioinnissa ei kuitenkaan saatu riittävää vahvistusta lääkkeen tehosta, jotta myyntiluvan jatkaminen olisi ollut suositeltavaa. CHMP:n näkemyksen mukaan Translarnan hyödyt eivät ylitä valmisteen riskejä myyntiluvan edellyttämällä tavalla.</p><h2 class="sc-gEvEer kGTkjt yle__article__heading yle__article__heading--2">Fimea pyytää lääkettä käyttäviä ottamaan yhteyttä hoitavaan tahoon</h2><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Fimea pyytää Translarna-lääkettä käyttäviä potilaita ja heidän vanhempiaan pyydetään olemaan yhteydessä hoitavaan tahoon ja lääkäriinsä.</p><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Duchennen lihasdystrofia on harvinainen, vakava ja etenevä lihassairaus, joka aiheuttaa lihasten surkastumista ja vaikean liikuntavamman.</p><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Se on yleisin lapsuudessa diagnosoitava lihasrappeumatauti ja sen oireet alkavat näkyä varhaislapsuudessa tai viimeistään ennen kouluikää. Sairastunut joutuu pyörätuoliin usein jo 10–15-vuotiaana.</p><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Lihasten surkastuminen aiheuttaa vakavia terveydellisiä ongelmia myös sydämessä ja hengityslihaksissa, ja elinikä on tavanomaista huomattavasti lyhyempi.</p><p class="aw-1gybjub aw-1p7kakr jxdWmn ilDxnw yle__article__paragraph">Vain pojat sairastuvat tautiin vakavasti.</p></section><footer class="yle__article__footer"><h2 class="aw-zh6d69 dMYkJU">Aiheesta enemmän: Paketissa 2 linkkiä</h2><h2 class="sc-eqUAAy ctFUoD yle__article__heading yle__article__heading--3" aria-hidden="true">Aiheesta enemmän</h2><div class="yle__article__links" role="list" aria-label="Aiheesta enemmän"><div role="listitem" class="aw-124ec9l cFgRwb"><div class="aw-yq4wj5 hkKela"><div class="aw-fou4nx hULxUh"><div class="aw-aqrehu kskGQO"><div class="aw-ej1jxx Vjwex"><a href="/web/20240205040943/https://yle.fi/t/18-211990/fi" aria-label="Lisää artikkeleita aiheesta Sairaudet" class="aw-l7odld jXfkxq">Sairaudet</a></div><h3 class="aw-x9ikft cGmEmT"><a href="https://web.archive.org/web/20240205040943/https://yle.fi/a/74-20059990" class="aw-3ocnud eBKakF">Suomen kalleimman lääkkeen myynti loppuu</a></h3><time class="aw-4gocmc guzJZN">2023</time></div></div><div class="aw-vhyz8i mQzOb"><div class="aw-8sjfvz juaHCW"><div class="aw-1njknqq euollB"><picture><source data-testid="source-for-S" media="(max-width: 767px)" srcset="https://web.archive.org/web/20240205040943im_/https://images.cdn.yle.fi/image/upload/ar_1.0,c_fill,g_faces,h_220,w_220/dpr_2.0/q_auto:eco/f_auto/fl_lossy/39-928482623098fb62473 2x, https://web.archive.org/web/20240205040943im_/https://images.cdn.yle.fi/image/upload/ar_1.0,c_fill,g_faces,h_220,w_220/dpr_1.0/q_auto:eco/f_auto/fl_lossy/39-928482623098fb62473 1x"/><source data-testid="source-for-M" media="(min-width: 768px)" srcset="https://web.archive.org/web/20240205040943im_/https://images.cdn.yle.fi/image/upload/ar_1.7777777777777777,c_fill,g_faces,h_123,w_220/dpr_2.0/q_auto:eco/f_auto/fl_lossy/39-928482623098fb62473 2x, https://web.archive.org/web/20240205040943im_/https://images.cdn.yle.fi/image/upload/ar_1.7777777777777777,c_fill,g_faces,h_123,w_220/dpr_1.0/q_auto:eco/f_auto/fl_lossy/39-928482623098fb62473 1x"/><img alt="Lähikuva pyörätuolin pyöristä. 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","source":"Hilma Toivonen \u002F Yle","aspect":1.4998870566975377,"caption":"Duchennen lihasdystrofiaa sairastava joutuu pyörätuoliin usein jo 10–15-vuotiaana. Vain pojat sairastuvat tautiin vakavasti. Kuvituskuva.","id":"39-928482623098fb62473","type":"image","alts":[{"language":"fin","value":"Lähikuva pyörätuolin pyöristä. 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Lääkevirasto teki päätöksen uudelleenarvioinnin jälkeen.","type":"text"},{"text":"Euroopan lääkevirasto (EMA) on vahvistanut kantansa olla suosittamatta ehdollisen myyntiluvan uudistamista lihastautilääke Translarnalle (atalureeni) EU:n alueelle, [tiedottaa](https:\u002F\u002Ffimea.fi\u002F-\u002Feuroopan-laakevirasto-ei-suosita-lihastautilaake-translarnan-ehdollisen-myyntiluvan-uudistamista) Lääkealan turvallisuus- ja kehittämiskeskus Fimea.","type":"text"},{"text":"Asiasta päättää Euroopan lääkeviraston suosituksesta Euroopan komissio, jolloin myyntilupa raukeaa yhtä aikaa kaikissa EU-maissa, myös Suomessa.","type":"text"},{"text":"Suomessa kuusi lapsipotilasta, kustannukset miljoonia euroja","level":2,"type":"heading"},{"text":"Translarna-lääke on ollut ehdollisen myyntiluvan turvin käytettävissä niille potilaille, jotka sairastavat Duchennen lihasdystrofiaa (DMD) ja kykenevät kävelemään omin avuin.","type":"text"},{"text":"Viime vuoden lopulla [uutisoitiin](https:\u002F\u002Fyle.fi\u002Fa\u002F74-20058198), että Duchennen lihasdystrofiaan käytettävä atalureeni on ollut Suomen kallein Kela-korvattava lääke. Lääkkeen kustannukset ovat olleet yli kolme miljoonaa euroa ja lääkkeestä hyötyviä lapsipotilaita on ollut kuusi.","type":"text"},{"text":"Edellytykset myyntiluvan uudistamiseen eivät täyty","level":2,"type":"heading"},{"text":"[Aiemmin on kerrottu](https:\u002F\u002Fyle.fi\u002Fa\u002F74-20059990), että EMA päätti jo [syyskuussa](https:\u002F\u002Fwww.ema.europa.eu\u002Fen\u002Fnews\u002Fema-recommends-non-renewal-authorisation-duchenne-muscular-dystrophy-medicine-translarna), että lääkkeen myyntilupaa ei jatketa, koska EMA:n mukaan sen vaikutusta ei ole pystytty näyttämään toteen.","type":"text"},{"text":"Sen jälkeen lääkeyhtiö teki valituksen EMA:n päätöksestä ja pyysi asian uudelleenkäsittelyä.","type":"text"},{"text":"Tämän johdosta EMA:n Lääkevalmistekomitean (CHMP) [uusinta päätöstä](https:\u002F\u002Fwww.ema.europa.eu\u002Fen\u002Fnews\u002Fema-confirms-recommendation-non-renewal-authorisation-duchenne-muscular-dystrophy-medicine-translarna) edelsi huolellinen uudelleenarviointi, jossa arvioitiin Translarnan hyödyt ja haitat uudestaan kaiken myyntiluvanhaltijan toimittaman tieteellisen tutkimustiedon pohjalta.","type":"text"},{"text":"Kaiken saatavilla olevan tutkimustiedon arvioinnissa ei kuitenkaan saatu riittävää vahvistusta lääkkeen tehosta, jotta myyntiluvan jatkaminen olisi ollut suositeltavaa. CHMP:n näkemyksen mukaan Translarnan hyödyt eivät ylitä valmisteen riskejä myyntiluvan edellyttämällä tavalla.","type":"text"},{"text":"Fimea pyytää lääkettä käyttäviä ottamaan yhteyttä hoitavaan tahoon","level":2,"type":"heading"},{"text":"Fimea pyytää Translarna-lääkettä käyttäviä potilaita ja heidän vanhempiaan pyydetään olemaan yhteydessä hoitavaan tahoon ja lääkäriinsä.","type":"text"},{"text":"Duchennen lihasdystrofia on harvinainen, vakava ja etenevä lihassairaus, joka aiheuttaa lihasten surkastumista ja vaikean liikuntavamman.","type":"text"},{"text":"Se on yleisin lapsuudessa diagnosoitava lihasrappeumatauti ja sen oireet alkavat näkyä varhaislapsuudessa tai viimeistään ennen kouluikää. Sairastunut joutuu pyörätuoliin usein jo 10–15-vuotiaana.","type":"text"},{"text":"Lihasten surkastuminen aiheuttaa vakavia terveydellisiä ongelmia myös sydämessä ja hengityslihaksissa, ja elinikä on tavanomaista huomattavasti lyhyempi.","type":"text"},{"text":"Vain pojat sairastuvat tautiin vakavasti.","type":"text"},{"type":"links","links":[{"external":{"url":"https:\u002F\u002Fweb.archive.org\u002Fweb\u002F20240205040943\u002Fhttps:\u002F\u002Fyle.fi\u002Fa\u002F74-20059990"},"internal":{"id":"74-20059990"},"title":"Suomen kalleimman lääkkeen myynti loppuu","datePublished":"2023-11-16T11:17:31+0200","subject":{"description":{"fi":"biologiset ilmiöt","sv":"biologiska fenomen","en":"illness","ru":null,"se":null},"exactMatch":["leiki:focus100k_na_1094981","leiki:focus100k_na_1447961","freebase:\u002Fm\u002F027x3","finto:http:\u002F\u002Fwww.yso.fi\u002Fonto\u002Fkoko\u002Fp16845","wikidata:Q12136"],"updated":"2022-10-02T21:12:59+03:00","alternativeIds":["18-1133","18-23238","18-291200","18-323040","18-130903"],"title":{"fi":"sairaudet","sv":"sjukdomar","en":"sickness","ru":null,"se":null},"types":["MainConcept","Concept"],"id":"18-211990","contentHits":1254},"headline":{"image":{"alt":"Lähikuva pyörätuolin pyöristä. 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Siihen sairastuu arviolta peräti yksi n. 3 300 pojasta, joten se on lasten yleisin lihasrappeumatauti.\nDuchennen lihasdystrofia on invalidisoiva, parantumaton sairaus, joka johtaa etenevään lihasheikkouteen ja liikuntavammaisuuteen. Yleensä pyörätuoli on tarpeen jo ennen murrosikää.\nDuchennen lihasdystrofia johtaa useimmiten (erään tutkimuksen mukaan 95 %:ssa tapauksistalähde?) sydänvikaan. Sairauteen liittyy eniten lihaksissa, sydämessä ja aivoissa esiintyvän dystrofiiniproteiinin puutetta. Sairauden oireita ovat niin ikään skolioosi ja hapensaannin vaikeuteen johtava keuhkojen heikkous. Joskus lihasdystrofian yhteydessä esiintyy lievää kehitysvammaisuutta.\nBeckerin lihasdystrofia muistuttaa Duchennea, mutta puhkeaa myöhemmin, eikä eteneminen ole niin rajua.","sv":"Duchennes muskeldystrofi, DMD, är en progressiv och mycket allvarlig muskelsjukdom uppkallad efter den franske läkaren Guillaume Duchenne. Sjukdomen är ärftligt X-länkat recessiv och drabbar oftast pojkar eftersom de endast har en X-kromosom. På senare tid har det även visats att kvinnor i mycket sällsynta fall kan drabbas av muskelsjukdomen. I Finland drabbas något färre än tio personer varje år, i Sverige drygt tio.\nSjukdomen yttrar sig så att musklerna successivt bryts ner, och ersätts av fett och bindväv. Den sjuke får allt sämre motorik och svårt att röra sig. Är DMD känd sedan tidigare i släkten kan anlagsbärardiagnostik göras på den blivande modern. Man kan även få DMD utan att mamman bär anlaget, då rör det sig om en ny genmutation.","en":"Duchenne muscular dystrophy is a recessive X-linked form of muscular dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and premature death. The disorder is caused by a mutation in the gene dystrophin, located on the human X chromosome, which codes for the protein dystrophin. 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