Duchennes muskeldystrofi

Duchennes muskeldystrofi
Område(r)Nevrologi[1]
Symptom(er)Myasteni,[1] kardiomyopati,[1] amyotrofi[1]
Ekstern informasjon
ICD-10-kodeG71.0
ICD-9-kode359.1
OMIM310200
DiseasesDB3985
MeSHD020388

Duchennes muskeldystrofi er en arvelig, progredierende muskelsykdom som skyldes en mutasjon som rammer genet som koder for proteinet dystrofin. Dystrofi betyr direkte oversatt «underutviklet». Muskeldystrofi er betegnelse på tilstander hvor musklene ikke utvikler seg som de skal, og blir tynne og svake.[2]

Etiologi og patogenese

Duchennes skyldes en defekt i proteinet dystrofin. Arvegangen er recessiv kjønnsbunden (på X-kromosomet), og rammer derfor sønner av friske mødre som er bærere. Graden av mutasjon, og dermed mengden funksjonelt dystrofin, avgjør alvorlighetsgraden av sykdommen. Ved mild affeksjon kalles sykdommen Beckers muskeldystrofi, og ved alvorligere Duchennes muskeldystrofi. Sykdommen kan også arte seg utelukkende som en kardiomyopati, og vil da være dødelig med hjertesvikt.

Klinikk

Duchennes karakteriseres av proksimal muskelsvakhet som progredierer gradvis helt fra barneårene. Den oppdages som regel i 1-3års alderen ved at barnet ikke har normal progresjon av gangeutviklingen. Etterhvert (5-10års alderen) blir barnet ute av stand til å reise seg uten å «klatre» opp ved hjelp av å støtte armene på beina eller omgivelsene (Gowers tegn). Innen de er fylt 12 år, vil 95% ha mistet gangfunksjonen totalt.

Beckers er nesten helt lik Duchenne, bare at symptomdebuten er langt senere (ung voksen).

Ved begge tilstander kan det utvikles en kardiomyopati som som regel vil føre til hjertesvikt og død.

Referanser

  1. ^ a b c d Klinická neurologie: část speciální (på tsjekkisk). ISBN 978-80-7387-389-9. Wikidata Q90835855. 
  2. ^ «Becker og Duchenne muskeldystrofi». Pasienthåndboka.no. Arkivert fra originalen 22. februar 2013. Besøkt 12. august 2007. 

Se også

  • Frambu, kompetansesenter for sjeldne diagnoser
  • Ibelin (film), film om Mats Steens liv med Duchennes muskeldystrofi


Eksterne lenker

Read other articles:

2023 BWF World Junior Championships – Teams event

2023 BWF World Junior Championships Badminton tournament2023 BWF World Junior Championships Teams eventTournament detailsDates25 – 30 September 2023Edition23rdLevelInternationalNations38VenueThe PodiumLocationSpokane, Washington, United States ← 2022 Santander 2024 TBC → 2023 BWF World Junior ChampionshipsSinglesboysgirlsDoublesboysgirlsMixeddoublesteamsvte The teams event of the 2023 BWF World Junior Championships is being held from 25 – 30 September 2023.[1] The event is als...

 

Baby Vox

Baby V.O.X베이비복스Baby V.O.X di konser 2009Informasi latar belakangAsalKorea SelatanGenreK-pop, R&BTahun aktif1997 (1997)–2006 (2006)LabelDR MusicMantan anggota Kim E-Z Lee Hee-Jin Kan Mi-Youn Shim Eun-Jin Yoon Eun-Hye Cha Yu-Mi Jung Hyun-Jeon Jung Shi-Woon Lee Gai Nama KoreaHangul베이비복스 Alih AksaraBeibi BokseuMcCune–ReischauerPeipi Poksŭ Baby V.O.X (Korea: 베이비복스code: ko is deprecated ) adalah sebuah grup K-pop Korea Selatan yang dibentuk pada 1997...

 

The Genesis Flood

The Genesis Flood PengarangJohn C. Whitcomb dan Henry M. MorrisPenerbitPresbyterian & Reformed PublishingTanggal terbit1961Jenis mediaPaperbackISBNISBN 0-87552-338-2OCLC9199761 The Genesis Flood: The Biblical Record and its Scientific Implications (Air Bah Kitab Kejadian: Catatan Alkitab dan Implikasi Ilmiahnya; disingkat The Genesis Flood) adalah buku yang diterbitkan pada tahun 1961 oleh John C. Whitcomb dan Henry M. Morris, para pakar Kreasionisme Bumi Muda (Young Earth) yang...

Hornito

Conical structures built up by lava ejected through an opening in the crust of a lava flow For the corregimiento in Panama, see Hornito, Chiriquí. A hornito on the island of Réunion An example of a hornito on Hawaii that has built lava spatter deposits into a mound over its vent Hornitos are conical, or pipe-like, structures built up by lava spattering or being ejected through an opening in the crust of a lava flow.[1] Hornitos are similar to spatter cones but are rootless, meaning ...

 

Trade dress

Characteristics of visual appearance of a product Intellectual property Authors' rights Copyleft Copyright Database right Farmers' rights Geographical indication Indigenous intellectual property Industrial design right Integrated circuit layout design protection Moral rights Patent Peasants' rights Plant breeders' rights Plant genetic resources Related rights Supplementary protection certificate Trade dress Trade secret Trademark Utility model Related topics Abandonware Artificial intelligenc...

 

Maryland Legislative District 8

American legislative district Maryland's legislative district 8Representspart of Baltimore CountySenatorKatherine A. Klausmeier (D)Delegate(s) Nick Allen (D) Harry Bhandari (D) Carl W. Jackson (D) Registration53.3% Democratic26.5% Republican18.6% unaffiliatedDemographics51.8% White30.3% Black/African American0.3% Native American8.5% Asian0.0% Hawaiian/Pacific Islander3.1% Other race5.9% Two or more races6.0% HispanicPopulation (2020)...

New (EP)

1995 EP by Regurgitator NewEP by RegurgitatorReleased13 August 1995 (1995-08-13)StudioRed Zeds; Brisbane, AustraliaLength20:27[1]LabelEast West/WEA AustraliaReprise/Warner Bros. RecordsProducerMagooRegurgitator chronology Regurgitator(1994) New(1995) Tu-Plang(1996) New is the second extended play (EP) by Australian rock band Regurgitator. The EP was released in August 1995 and peaked at number 30 on the ARIA singles chart. At the ARIA Music Awards of 1996, it was no...

 

Несторианство

ХристианствоБиблия Ветхий Завет Новый Завет Евангелие Десять заповедей Нагорная проповедь Апокрифы Бог, Троица Бог Отец Иисус Христос Святой Дух История христианства Апостолы Хронология христианства Раннее христианство Гностическое христианство Вселенские соборы Н...

 

新罕布什尔州

坐标：43°11′38″N 71°34′21″W / 43.1938516°N 71.5723953°W / 43.1938516; -71.5723953 此條目需要补充更多来源。 (2017年5月21日)请协助補充多方面可靠来源以改善这篇条目，无法查证的内容可能會因為异议提出而被移除。致使用者：请搜索一下条目的标题（来源搜索：新罕布什尔州 — 网页、新闻、书籍、学术、图像），以检查网络上是否存在该主题的更多可靠来源...

中華民國國軍中的中共間諜列表

 本表是動態列表，或許永遠不會完結。歡迎您參考可靠來源來查漏補缺。 潛伏於中華民國國軍中的中共間諜列表收錄根據公開資料來源，曾潛伏於中華民國國軍、被中國共產黨聲稱或承認，或者遭中華民國政府調查審判，為中華人民共和國和中國人民解放軍進行間諜行為的人物。以下列表以現今可查知時間為準，正確的間諜活動或洩漏機密時間可能早於或晚於以下所歸�...

 

Autorsha

2018 Movie AutorshaPosterDirected bySujith VaassudevWritten byJayaraj MithraProduced byMohandasSujith VaassudevLenin VargheseStarringAnusreeSankar InduchoodanAmar VikasAdarsh RajanCinematographySujith VaassudevEdited byJohnkuttyMusic bySharreth[1]ProductioncompaniesMD Media - A production house owned by Thazhchayil Creations, owned by Mohandas Damodaran, an NRI businessmanLarva ClubRelease date 23 November 2018 (2018-11-23) Running time134 minutesCountryIndiaLanguageMal...

 

Valencia Tool & Die

1980s era San Francisco music and art venue 974 Valencia Street in 2015 Valencia Tool & Die, (VT&D), was a 1980s San Francisco music venue and art gallery founded by Peter Belsito and Jim Stockford, that presented punk, new wave, and new music performances, as well as performance art, film, and visual art shows from 1980 through 1983. Valencia Tool & Die, which to a passerby appeared to be an empty store front with no signage to identify it other than the street number, was locate...

民主建港協進聯盟

本條目存在以下問題，請協助改善本條目或在討論頁針對議題發表看法。 此條目之中立性有争议。其內容、語調可能帶有明顯的個人觀點或地方色彩。 (2015年6月22日)加上此模板的編輯者需在討論頁說明此文中立性有爭議的原因，以便讓各編輯者討論和改善。在編輯之前請務必察看讨论页。 此條目含有過多、重複或不必要的内部链接。 (2016年3月1日)請根据格式指引，移除重�...

 

Nehemia 2

Nehemia 2Kitab Ezra (Kitab Ezra-Nehemia) (memuat Kitab Ezra dan Nehemia) lengkap pada Kodeks Leningrad, dibuat tahun 1008.KitabKitab NehemiaKategoriNevi'imBagian Alkitab KristenPerjanjian LamaUrutan dalamKitab Kristen16← pasal 1 pasal 3 → Nehemia 2 (disingkat Neh 2) adalah pasal kedua Kitab Nehemia dalam Alkitab Ibrani dan Perjanjian Lama di Alkitab Kristen. Memuat riwayat juru minuman raja Persia, Artahsasta, dan gubernur Yehuda, Nehemia bin Hakhalya. Dalam Alkitab Ibrani termasu...

 

Imperialism, the Highest Stage of Capitalism

1917 book by Vladimir Lenin Imperialism, the Newest Stage of Capitalism Cover of a Russian first editionAuthorVladimir LeninOriginal titleИмперіализмъ какъ новѣйшій этапъ капитализмаLanguageRussianGenrePolitical economy, economic theoryPublished1917Publication placeRussian RepublicTextImperialism, the Newest Stage of Capitalism at Wikisource Part of a series onLeninism Schools of thought Bolshevism Bordigism Marxism–Leninism Nkrumaism Right commu...

中国大陆人口

更多信息：中国人口史 中国大陆人口统计2020年中国人口金字塔人口▼14亿967万（2023年，国家统计局估计）（世界第2位）增长率▼ -1.48‰（2023年，国家统计局估计）出生率▼6.39‰（2023年，国家统计局估计）死亡率▲7.87‰（2023年，国家统计局估计） 预期寿命78.2岁（2021年）[1] • 男性73.64岁（2015年国家统计局抽样） • 女性79.43岁（2015年国家统计局抽样�...

 

Circle of confusion

Blurry region in optics Blur circle redirects here. For the film, see Blur Circle. For the closely related topic in microscopy, see Point spread function. This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these messages) This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (January 2020) (Learn how ...

 

The Night Without Pause

1931 film The Night Without PauseDirected byAndrew MartonFranz WenzlerWritten byFranz Arnold (play)Ernst Bach (play)Bobby E. LüthgeWilly PragerProduced byJoe PasternakStarringSig ArnoCamilla HornMax AdalbertCinematographyKároly VassEdited byWolfgang BeckerMusic byOtto StranskyProductioncompaniesDeutsche Universal-FilmTobis FilmDistributed byDeutsche Universal-FilmRelease date 22 December 1931 (1931-12-22) Running time87 minutesCountryGermanyLanguageGerman The Night Without Pa...

حصار طولون

Siege of Toulon جزء من حروب الثورة الفرنسية خريطة طولون في عام 1840 معلومات عامة التاريخ 8 سبتمبر - 19 ديسمبر 1793 البلد فرنسا  الموقع طولون, فرنسا43°08′N 5°55′E / 43.13°N 5.92°E / 43.13; 5.92   النتيجة انتصار جمهورية فرنسا المتحاربون  فرنسا  بريطانيا العظمى إسبانيا آل بوربون...

 

Lee Ufan

Korean artist In this Korean name, the family name is Lee.Lee UfanBornJune 24, 1936Haman-gun, South KoreaNationalitySouth KoreanEducationNihon UniversityMovementMono-haAwardsLegion of HonourPraemium Imperiale Lee UfanHangul이우환Hanja李禹煥Revised RomanizationYi UhwanMcCune–ReischauerI UhwanLee Ufan (Korean: 이우환, Hanja: 李禹煥, Korean pronunciation: [iːuhwan] born 1936 in Haman County, in South Kyongsang province in Korea) is a Korean minimalist painter, sculptor, an...