{"id":78082,"date":"2025-02-27T00:00:00","date_gmt":"2025-02-26T23:00:00","guid":{"rendered":"https:\/\/dev.institutchiaribcn.com\/comunicacion\/la-journee-des-maladies-rares-2025\/"},"modified":"2026-02-23T09:26:59","modified_gmt":"2026-02-23T08:26:59","slug":"journee-maladies-rares-2025","status":"publish","type":"comunicacion","link":"https:\/\/institutchiaribcn.com\/fr\/journee-maladies-rares-2025\/","title":{"rendered":"La Journ\u00e9e des Maladies Rares 2025"},"content":{"rendered":"<p class=\"text-muted aniview centerTXT\">Published by <a title=\"Articles par ICSEB\" href=\"https:\/\/institutchiaribcn.com\/fr\/author\/chiari\/\" rel=\"author\">ICSEB<\/a> at 27 f\u00e9vrier, 2025<\/p>\n<p style=\"text-align: left;\">\u00c0 l\u2019Institut Chiari de Barcelone, nous travaillons depuis 2008 avec des pathologies li\u00e9es \u00e0 la <strong>Maladie du Filum et au Syndrome Neuro-cr\u00e2nio-vert\u00e9bral<\/strong>, dont certaines sont consid\u00e9r\u00e9es comme des <strong>maladies orphelines<\/strong>, comme le <strong>Syndrome d\u2019Arnold-Chiari I et la Syringomy\u00e9lie idiopathique<\/strong>.<\/p>\n<p style=\"text-align: left;\">Les auteurs de <em>The Lancet Global Health<\/em> affirmaient l\u2019ann\u00e9e derni\u00e8re qu\u2019en g\u00e9n\u00e9ral, la Journ\u00e9e des Maladies Rares de 2024 \u00e9tait marqu\u00e9e \u00e0 la fois par des avanc\u00e9es et des d\u00e9fis persistants. Ils soulignaient alors qu\u2019il \u00e9tait encore \u00ab <strong>n\u00e9cessaire de pr\u00eater une attention urgente \u00e0 la priorisation du diagnostic pr\u00e9coce et pr\u00e9cis, ainsi qu\u2019au traitement efficace des maladies rares, par des politiques sp\u00e9cifiques et un financement pour la recherche et le d\u00e9veloppement<\/strong>. Une approche collective impliquant l\u2019int\u00e9gration des maladies rares dans le syst\u00e8me de soins de sant\u00e9, l\u2019inclusion des consid\u00e9rations de sant\u00e9 mentale dans les services des maladies rares et une plus grande sensibilisation seront essentielles pour favoriser le progr\u00e8s et r\u00e9pondre aux besoins non satisfaits des personnes touch\u00e9es par des maladies rares. \u00bb (<em>The landscape for rare diseases in 2024, The Lancet, Vol 12, March 2024<\/em>).<\/p>\n<p style=\"text-align: left;\">En ce qui concerne les pathologies dont nous nous occupons, nous sommes enti\u00e8rement d\u2019accord qu\u2019il <strong>est fondamental et urgent d\u2019obtenir un diagnostic le plus t\u00f4t possible<\/strong>. Tout d\u2019abord, les caract\u00e9ristiques d\u2019imagerie qui sont souvent ignor\u00e9es en radiologie et en neurochirurgie <strong>dans les tests diagnostiques<\/strong> (IRM) ; comme les descentes des amygdales c\u00e9r\u00e9belleuses de quelques millim\u00e8tres (qui ne sont pas accept\u00e9es comme Arnold-Chiari I), les impacts de celles-ci sur le foramen occipital (qui ne sont toujours pas diagnostiqu\u00e9s comme Arnold-Chiari 0), les \u0153d\u00e8mes ou isch\u00e9mies de la moelle \u00e9pini\u00e8re (pr\u00e9-syringomy\u00e9lies) et bien d\u2019autres ; comme les preuves de moelle tendue, les d\u00e9viations de la colonne vert\u00e9brale et le c\u00f4ne m\u00e9dullaire plus bas de D12-L1, typiques du SNCV.<\/p>\n<p><img fetchpriority=\"high\" decoding=\"async\" class=\"aligncenter\" src=\"https:\/\/institutchiaribcn.com\/wp-content\/uploads\/2025\/02\/symptome-FR.png\" width=\"500\" height=\"965\" \/><\/p>\n<p style=\"text-align: left;\">En second lieu, <strong>concernant les sympt\u00f4mes et les signes<\/strong>, il semble qu\u2019il ne soit toujours pas accept\u00e9 que le tableau clinique associ\u00e9 \u00e0 ces diagnostics puisse \u00eatre aussi vari\u00e9 que nos sp\u00e9cialistes l\u2019ont d\u00e9crit et publi\u00e9 (<em>Tableau I et II<\/em>). En effet, de nombreux patients doivent encore subir une longue attente depuis les premiers examens avec leur m\u00e9decin g\u00e9n\u00e9raliste ou de famille jusqu\u2019\u00e0 la consultation avec des sp\u00e9cialistes, avec la surprise que parfois ces m\u00eames sp\u00e9cialistes ne connaissent pas l\u2019\u00e9tendue des troubles associ\u00e9s aux conditions impliqu\u00e9es dans la Maladie du Filum.<\/p>\n<p style=\"text-align: left;\">Troisi\u00e8mement, bien qu\u2019il existe d\u00e9j\u00e0 une litt\u00e9rature m\u00e9dico-scientifique assez vaste d\u00e9crivant \u00e9galement les sympt\u00f4mes neuropsychologiques de ces pathologies, notamment du Syndrome d\u2019Arnold-Chiari I, <strong>les patients continuent d\u2019\u00eatre orient\u00e9s vers des circuits de sant\u00e9 mentale<\/strong>, m\u00eame lorsqu\u2019il y a des anomalies dans les images, mais g\u00e9n\u00e9ralement, si elles sont l\u00e9g\u00e8res, on refuse de leur attribuer le niveau de d\u00e9gradation de la sant\u00e9 qu\u2019elles peuvent r\u00e9ellement provoquer.<\/p>\n<p style=\"text-align: left;\">\u201cLes progr\u00e8s dans le <strong>diagnostic pr\u00e9coce et pr\u00e9cis<\/strong> sont d\u2019une importance cl\u00e9, car un diagnostic rapide peut am\u00e9liorer les r\u00e9sultats de sant\u00e9 et la qualit\u00e9 de vie.\u201d C\u2019est pr\u00e9cis\u00e9ment pour cette raison que nous recommandons aux patients de proc\u00e9der \u00e0 un <strong>diagnostic pr\u00e9coce dans notre centre d\u00e8s que possible<\/strong>, afin de d\u00e9tecter les descentes ou impacts des amygdales, scolioses\/cyphoses \u2013 m\u00eame l\u00e9g\u00e8res -, ainsi que de petits kystes dans la moelle \u00e9pini\u00e8re ; tous ces sympt\u00f4mes correspondent au tableau clinique mentionn\u00e9. Bien que les sp\u00e9cialistes ou radiologues consult\u00e9s pr\u00e9c\u00e9demment n\u2019y aient pas accord\u00e9 d\u2019importance.<\/p>\n<p style=\"text-align: left;\">En cette <strong>Journ\u00e9e internationale des Maladies Rares de 2025<\/strong>, nous insistons sur l\u2019importance pour les patients de <strong>recevoir un avis pr\u00e9coce et d\u2019acc\u00e9der \u00e0 un traitement appropri\u00e9, minimement invasif, personnalis\u00e9 et prenant en compte toutes les \u00e9tapes n\u00e9cessaires pour r\u00e9soudre chaque trouble d\u00e9velopp\u00e9<\/strong>. Et ce, le plus t\u00f4t possible \u2013 comme le propose la m\u00e9thode Filum System\u00ae \u2013, ce qui peut grandement aider \u00e0 obtenir de meilleurs <strong>r\u00e9sultats de gu\u00e9rison, de soulagement ou, du moins, \u00e0 d\u00e9tecter la d\u00e9t\u00e9rioration neurologique et ainsi retrouver une qualit\u00e9 de vie satisfaisante.<\/strong><\/p>\n","protected":false},"featured_media":78083,"template":"","tipos-de-comunicacion":[510],"class_list":["post-78082","comunicacion","type-comunicacion","status-publish","has-post-thumbnail","hentry","tipos-de-comunicacion-nouvelles"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Journ\u00e9e maladies rares 2025 : Chiari &amp; Syringomy\u00e9lie | ICSEB<\/title>\n<meta name=\"description\" content=\"ICSEB sensibilise au diagnostic pr\u00e9coce de Chiari I, Syringomy\u00e9lie et Filum lors de la Journ\u00e9e internationale des maladies 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