{"id":65,"date":"2015-05-20T09:57:33","date_gmt":"2015-05-20T08:57:33","guid":{"rendered":"http:\/\/127.0.0.1\/projects\/afg\/?page_id=65"},"modified":"2021-01-28T19:19:31","modified_gmt":"2021-01-28T18:19:31","slug":"deficit-en-lamp-2-maladie-de-danon","status":"publish","type":"page","link":"https:\/\/www.glycogenoses.org\/st_qlfctn\/les-glycogenoses\/deficit-en-lamp-2-maladie-de-danon\/","title":{"rendered":"D\u00e9ficit en LAMP &#8211; 2 : Maladie de Danon"},"content":{"rendered":"<p><section id=\"bt_section6a1aad1a040ab\"  class=\"boldSection btDivider topSemiSpaced bottomSemiSpaced btDarkSkin gutter inherit\" style=\"background-color:#0cb8b6;\"><div class=\"port\"><div class=\"boldCell\"><div class=\"boldCellInner\"><div class=\"boldRow  \" ><div class=\"boldRowInner\"><div class=\"rowItem col-md-12 col-ms-12  btTextLeft animate animate-fadein animate-moveleft inherit btDoublePadding\"  ><div class=\"rowItemContent\" ><header class=\"header btClear large btDash bottomDash  btNormalDash\" ><div class=\"btSuperTitle\">Les Glycog\u00e9noses<\/div><div class=\"dash\"><h2><span class=\"headline\"><em>D\u00e9ficit en LAMP \u2013 2 : Maladie de Danon<\/em><\/span><\/h2><\/div><\/header><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/section><section id=\"bt_section6a1aad1a04280\"  class=\"boldSection topSemiSpaced bottomSpaced gutter inherit\" style=\"background-color:#f1f1f1;\"><div class=\"port\"><div class=\"boldCell\"><div class=\"boldCellInner\"><div class=\"boldRow  \" ><div class=\"boldRowInner\"><div class=\"rowItem col-md-12 col-ms-12  btTextLeft animate animate-fadein inherit btDoublePadding\"  ><div class=\"rowItemContent\" ><header class=\"header btClear medium  btNormalDash\" ><div class=\"dash\"><h3><span class=\"headline\"><em>Glycog\u00e9nose lysosomale \u00e0 activit\u00e9 maltase acide normale<\/em><\/span><\/h3><\/div><\/header><div class=\"btClear btSeparator bottomSmallSpaced border\" ><hr><\/div><div class=\"boldRow boldInnerRow  \" ><div class=\"rowItem rowInnerItem col-md-12  btTextLeft\"  ><div class=\"rowItemContent\"><div class=\"btText\" ><\/p>\n<p>La maladie de Danon (ou glycog\u00e9nose due au d\u00e9ficit en LAMP-2 ou glycog\u00e9nose lysosomale \u00e0 activit\u00e9 maltase acide normale) est une glycog\u00e9nose lysosomale due au d\u00e9ficit en LAMP-2 (Lysosomal-Associated Membrane Protein 2).<\/p>\n<ul>\n<li>Les fonctions pr\u00e9cises de cette prot\u00e9ine sont inconnues mais elle semble jouer un r\u00f4le important dans l\u2019autophagie.<\/li>\n<li>La maladie, transmise sur le mode li\u00e9 \u00e0 l\u2019X, est extr\u00eamement rare et 13 cas seulement ont \u00e9t\u00e9 prouv\u00e9s.<\/li>\n<li>Classiquement, la maladie d\u00e9bute chez le gar\u00e7on apr\u00e8s 10 ans.<\/li>\n<li>Une cardiomyopathie s\u00e9v\u00e8re et une faiblesse musculaire d\u2019intensit\u00e9 variable sont les sympt\u00f4mes constants, fr\u00e9quemment associ\u00e9s \u00e0 un retard mental.<\/li>\n<li>L\u2019atteinte peut \u00eatre s\u00e9v\u00e8re dans les 2 sexes, mais le d\u00e9but est g\u00e9n\u00e9ralement plus tardif chez les femmes. Parmi les quatre observations atypiques de myopathie vacuolaire autophagique \u00e0 d\u00e9but pr\u00e9coce, la maladie de Danon a \u00e9t\u00e9 exclue dans les 2 cas \u00e9tudi\u00e9s pr\u00e9cis\u00e9ment.<\/li>\n<li>Le diagnostic biologique repose sur la mise en \u00e9vidence d\u2019une activit\u00e9 maltase acide normale ou augment\u00e9e, et l\u2019\u00e9tude d\u2019une biopsie musculaire montrant des vacuoles (remplies de glycog\u00e8ne et de produits de d\u00e9gradation cytoplasmique) et l\u2019absence de prot\u00e9ine LAMP-2 par immunohistochimie.<\/li>\n<li>Plusieurs mutations ont \u00e9t\u00e9 identifi\u00e9es dans le g\u00e8ne LAMP-2, localis\u00e9 en Xq24, rendant possible un diagnostic pr\u00e9natal. Il n\u2019existe pas de traitement sp\u00e9cifique. Seul un traitement symptomatique des troubles cardiaques est propos\u00e9 et un malade a b\u00e9n\u00e9fici\u00e9 d\u2019une transplantation cardiaque.<\/li>\n<\/ul>\n<p>\n<\/div><\/div><\/div><\/div><div class=\"btClear btSeparator topSmallSpaced bottomSmallSpaced border\" ><hr><\/div><div class=\"btIconImageRow btTextRight btIconsNormalPosition\" ><span class=\"btIco btIcoOutlineType btIcoSmallSize btIcoAccentColor   \" ><a href=\"https:\/\/www.facebook.com\/groups\/340091143124748\"  target = \"_blank\" data-ico-fa=\"&#xf09a;\" class=\"btIcoHolder\"><em><\/em><\/a><\/span><span class=\"btIco btIcoOutlineType btIcoSmallSize btIcoAccentColor   \" ><a href=\"mailto:secretariat@glycogenoses.org\"  target = \"no_target\" data-ico-fa=\"&#xf0e0;\" class=\"btIcoHolder\"><em><\/em><\/a><\/span><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/section><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":7,"featured_media":0,"parent":10,"menu_order":12,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/65"}],"collection":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/comments?post=65"}],"version-history":[{"count":6,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/65\/revisions"}],"predecessor-version":[{"id":1883,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/65\/revisions\/1883"}],"up":[{"embeddable":true,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/10"}],"wp:attachment":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/media?parent=65"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}