{"id":570,"date":"2022-06-28T14:44:42","date_gmt":"2022-06-28T12:44:42","guid":{"rendered":"https:\/\/www.afaf.asso.fr\/?page_id=570"},"modified":"2023-01-31T14:47:08","modified_gmt":"2023-01-31T13:47:08","slug":"ataxie-friedreich","status":"publish","type":"page","link":"https:\/\/www.afaf.asso.fr\/la-maladie\/ataxie-friedreich\/","title":{"rendered":"L&#8217;ataxie de Friedreich"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"570\" class=\"elementor elementor-570\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-6338cd8 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"6338cd8\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-4678a0c\" data-id=\"4678a0c\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-ee40a8b elementor-widget elementor-widget-text-editor\" data-id=\"ee40a8b\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<strong>L&#8217;ataxie de Friedreich<\/strong> est une maladie pour l&#8217;essentiel <strong>neurologique, \u00e9volutive, rare,\u00a0 g\u00e9n\u00e9tique<\/strong>, li\u00e9e \u00e0 un <strong>dysfonctionnement mitochondrial<\/strong>. Elle a \u00e9t\u00e9 d\u00e9crite pour la premi\u00e8re fois en 1881 par le neurologue allemand Nicolaus Friedreich.\n<ul>\n \t<li><strong>Une maladie neurologique :<\/strong> une ataxie est une incoordination des mouvements volontaires dans le temps et dans l\u2019espace par atteinte du cervelet et des voies de la sensibilit\u00e9 profonde.<\/li>\n \t<li><strong>Une maladie rare :<\/strong> l\u2019Ataxie de Friedreich touche environ 1500 personnes en France.<\/li>\n \t<li><strong>Une maladie g\u00e9n\u00e9tique :<\/strong> la transmission de l\u2019ataxie de Friedreich est autosomique r\u00e9cessive. C\u2019est donc une maladie g\u00e9n\u00e9tique et h\u00e9r\u00e9ditaire.<\/li>\n<\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5f115fa lien-ancre elementor-widget elementor-widget-text-editor\" data-id=\"5f115fa\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li><a href=\"#comment-se-manifeste-la-maladie\">Comment se manifeste la maladie ?<\/a><\/li><li><a href=\"#a-quoi-est-elle-due\">\u00c0 quoi est-elle due ?<\/a><\/li><li><a href=\"#comment-affirmer-le-diagnostic\">Comment affirmer le diagnostic ?<\/a><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-23ce383 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"23ce383\" data-element_type=\"section\" data-e-type=\"section\" id=\"comment-se-manifeste-la-maladie\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-2dfd7c1\" data-id=\"2dfd7c1\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-f81f27a elementor-widget elementor-widget-heading\" data-id=\"f81f27a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Comment se manifeste la maladie ?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-a973d90 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"a973d90\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f0f85a8 elementor-widget elementor-widget-text-editor\" data-id=\"f0f85a8\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Elle d\u00e9bute le plus souvent avant 25 ans, au cours de l\u2019enfance ou de l\u2019adolescence, mais un d\u00e9but plus tardif est possible.<\/p><p>L\u2019\u00e9volution est progressive, variable d\u2019une personne \u00e0 l\u2019autre y compris au sein d\u2019une m\u00eame fratrie si d\u2019autres sont atteints.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-f90e874 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"f90e874\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-inner-column elementor-element elementor-element-e13567d\" data-id=\"e13567d\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-f37819a elementor-widget elementor-widget-heading\" data-id=\"f37819a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Premiers signes<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-d65b7ca elementor-widget elementor-widget-text-editor\" data-id=\"d65b7ca\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Ataxie c\u00e9r\u00e9belleuse et sensitive, l\u2019ataxie de Friedreich provoque des troubles progressifs de l\u2019\u00e9quilibre et de la coordination des mouvements entra\u00eenant :<\/p><ul><li>Une marche de plus en plus difficile, pseudo-\u00e9brieuse, voire des chutes,<\/li><li>Des gestes de plus en plus maladroits,<\/li><li>Une \u00e9criture qui se d\u00e9grade,<\/li><li>Une grande fatigabilit\u00e9.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-8a2c49d elementor-widget elementor-widget-heading\" data-id=\"8a2c49d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Autres signes de survenue tr\u00e8s variable selon chaque personne et dans le temps<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e37577d elementor-widget elementor-widget-text-editor\" data-id=\"e37577d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>Une dysarthrie (\u00e9locution) d\u2019\u00e9volution lente\u00a0 (90 %),<\/li><li>Une atteinte cardiaque (60 %), surtout chez les jeunes, parfois inaugurale,<\/li><li>Une scoliose importante \u00e0 l\u2019adolescence (70%), parfois inaugurale,<\/li><li>Des pieds plus ou moins creux (58%),<\/li><li>Un risque plus \u00e9lev\u00e9 de diab\u00e8te insulinod\u00e9pendant (30 %),<\/li><li>Une spasticit\u00e9 (raideur musculaire involontaire),<\/li><li>Une baisse d\u2019acuit\u00e9 visuelle (30 %),<\/li><li>Une baisse d\u2019acuit\u00e9 auditive (30%),<\/li><li>Des troubles v\u00e9sico-sphinct\u00e9riens (40%),<\/li><li>Un syndrome d\u2019apn\u00e9e du sommeil (20%),<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-2ba9347 elementor-position-inline-start elementor-view-default elementor-mobile-position-block-start elementor-widget elementor-widget-icon-box\" data-id=\"2ba9347\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-box.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-icon-box-wrapper\">\n\n\t\t\t\t\t\t<div class=\"elementor-icon-box-icon\">\n\t\t\t\t<span  class=\"elementor-icon\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-info-circle\"><\/i>\t\t\t\t<\/span>\n\t\t\t<\/div>\n\t\t\t\n\t\t\t\t\t\t<div class=\"elementor-icon-box-content\">\n\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t<p class=\"elementor-icon-box-description\">\n\t\t\t\t\t\t<ul>\n \t<li><strong>Chaque malade est unique. <\/strong><\/li><li>Les capacit\u00e9s intellectuelles sont intactes. <\/li>\n \t<li>Il est rare qu\u2019une personne soit touch\u00e9e par l\u2019ensemble de ces complications. <\/li>\n \t<li>L'\u00e9volution de la maladie est lente, progressive et diff\u00e9rente selon chaque personne; chacun la vit diff\u00e9remment selon sa personnalit\u00e9 et son environnement..<\/li>\n<li>Une prise en charge pr\u00e9coce, symptomatique et pluridisciplinaire est importante pour ralentir l\u2019\u00e9volution et \u00e9viter certaines complications.<\/li>\n<\/ul>\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"dce-visibility-event elementor-column elementor-col-50 elementor-inner-column elementor-element elementor-element-c5e0af3\" data-id=\"c5e0af3\" data-element_type=\"column\" data-e-type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;enabled_visibility&quot;:&quot;yes&quot;,&quot;dce_visibility_selected&quot;:&quot;yes&quot;}\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-3bdd47a elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"3bdd47a\" data-element_type=\"section\" data-e-type=\"section\" id=\"a-quoi-est-elle-due\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-07e05e0\" data-id=\"07e05e0\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-fe82b41 elementor-widget elementor-widget-heading\" data-id=\"fe82b41\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">\u00c0 quoi est-elle due ?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-0042700 elementor-widget elementor-widget-text-editor\" data-id=\"0042700\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>L&#8217;ataxie de Friedreich est due \u00e0 un dysfonctionnement mitochondrial. Celui-ci entraine des troubles essentiellement au niveau neurologique, et chez certaines personnes des atteintes cardiaques ou d&#8217;autres organes.\u00a0<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-06b86a0 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"06b86a0\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-f385f8f elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"f385f8f\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-custom\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-inner-column elementor-element elementor-element-1026634\" data-id=\"1026634\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-a19b59f elementor-widget elementor-widget-heading\" data-id=\"a19b59f\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Maladie pour l'essentiel neurologique<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-6ac716c elementor-widget elementor-widget-text-editor\" data-id=\"6ac716c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>L\u2019atteinte neurologique de l\u2019ataxie de Friedreich touche le cervelet et les voies sensitives profondes. Le cervelet est un relais de transmission entre le cerveau et le corps. Il contr\u00f4le l&#8217;\u00e9quilibre, coordonne le tonus postural et les mouvements volontaires gr\u00e2ce aux informations qu&#8217;il centralise sur la position du corps dans l&#8217;espace, ceci en recueillant les informations donn\u00e9es sur la posture, les mouvements, \u2026, via les voies sensitives profondes. Il joue un grand r\u00f4le dans l\u2019adaptation des postures et dans l\u2019ex\u00e9cution des mouvements volontaires.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-bd26b8d elementor-widget elementor-widget-heading\" data-id=\"bd26b8d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Maladie g\u00e9n\u00e9tique<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-506053c elementor-widget elementor-widget-text-editor\" data-id=\"506053c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>L\u2019homme : il est constitu\u00e9 de milliards de cellules, r\u00e9unies en 200 types de tissus environ qui constituent les appareils ou syst\u00e8mes (nerveux, musculaires, etc.) du corps humain.<\/li><li>La cellule : chaque cellule contient un noyau et diff\u00e9rents organites, par exemple les mitochondries. Le noyau contient la plus grande part du patrimoine g\u00e9n\u00e9tique (g\u00e9nome nucl\u00e9aire). Toutes les cellules renferment dans leur noyau le m\u00eame programme g\u00e9n\u00e9tique, mais leur expression est diff\u00e9rente selon le tissu auquel elles appartiennent. Une autre partie du patrimoine g\u00e9n\u00e9tique provenant de la m\u00e8re est localis\u00e9e dans les mitochondries.<\/li><li>Les chromosomes : dans le noyau, il y a 23 paires de chromosomes. Chaque chromosome est form\u00e9 de mol\u00e9cules d\u2019ADN, Acide D\u00e9soxyribonucl\u00e9ique, parmi lesquelles les g\u00e8nes qui ne repr\u00e9sentent que 25 %. On a r\u00e9pertori\u00e9 actuellement 24194 g\u00e8nes dans l\u2019esp\u00e8ce humaine et on conna\u00eet 99,5 % du g\u00e9nome humain depuis 2004.<\/li><li>L\u2019ADN :\u00a0 il contient donc tout notre patrimoine g\u00e9n\u00e9tique. La mol\u00e9cule d\u2019ADN est faite de 2 fils ou brins en h\u00e9lices (Watson et Crick, prix Nobel 1953). C\u2019est une mol\u00e9cule chimique constitu\u00e9e de 4 bases (Ad\u00e9nine, Thymine, Guanine, Cytosine), de sucres et de phosphates.<\/li><li>Le g\u00e8ne : c\u2019est un segment de la mol\u00e9cule d&#8217;ADN codant pour des prot\u00e9ines. Il est constitu\u00e9 d\u2019une succession pr\u00e9cise de ces quatre bases, regroup\u00e9es par s\u00e9quences de trois, appel\u00e9s codons ou triplets. Le g\u00e8ne est form\u00e9 d\u2019introns et d\u2019exons.<\/li><li>L\u2019ARN (Acide Ribo Nucl\u00e9ique): c\u2019est le messager envoy\u00e9 par le g\u00e8ne codant pour fabriquer une prot\u00e9ine ou des prot\u00e9ines faites d\u2019acides amin\u00e9s ; on parle aussi de transcription.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7682494 elementor-widget elementor-widget-image\" data-id=\"7682494\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"375\" src=\"https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/07\/schema-adn-cellule.jpg\" class=\"attachment-large size-large wp-image-1026\" alt=\"\" srcset=\"https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/07\/schema-adn-cellule.jpg 1024w, https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/07\/schema-adn-cellule-600x220.jpg 600w, https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/07\/schema-adn-cellule-300x110.jpg 300w, https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/07\/schema-adn-cellule-768x281.jpg 768w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-baf35e0 elementor-widget elementor-widget-heading\" data-id=\"baf35e0\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Cellule, noyau, mitochondries <\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-456504a elementor-widget elementor-widget-text-editor\" data-id=\"456504a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>Dans chaque cellule, il y a des informations g\u00e9n\u00e9tiques (c\u2019est-\u00e0-dire h\u00e9rit\u00e9es des parents), sous la forme de mol\u00e9cules appel\u00e9es ADN, qui sont contenues dans le noyau et dans les mitochondries.<\/li><li>Les mitochondries permettent la production d&#8217;\u00e9nergie gr\u00e2ce au processus de respiration cellulaire.<\/li><li>Le noyau est entour\u00e9 d\u2019une membrane poss\u00e9dant des pores (le noyau communique avec le reste de la cellule) et renferme la plus grande part de l\u2019information dite \u00ab g\u00e9n\u00e9tique \u00bb (environ 100 000 g\u00e8nes) sous la forme de filaments d\u2019ADN organis\u00e9s de fa\u00e7on \u00e0 contenir cette information. L\u2019unit\u00e9 d\u2019information est appel\u00e9e \u00ab g\u00e8ne \u00bb, et un ensemble de filaments d\u2019ADN constitue un chromosome.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-cdd6a68 elementor-widget elementor-widget-text-editor\" data-id=\"cdd6a68\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\tLa copie d\u2019un g\u00e8ne peut sortir du noyau (au travers de pores dans la membrane entourant le noyau) sous la forme d\u2019un ARN. Cet ARN, une fois transport\u00e9 \u00e0 l\u2019ext\u00e9rieur du noyau, sert \u00e0 construire, par transcription, le plus souvent une prot\u00e9ine qui est en quelque sorte l\u2019ouvrier de la cellule : elle participe aux r\u00e9actions chimiques intracellulaires \u00e9voqu\u00e9es pr\u00e9c\u00e9demment. Une part de ce processus intervient dans les mitochondries cette fois \u00e0 partir des g\u00e8nes constitu\u00e9s par l\u2019ADN mitochondrial. \t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-abf5010 elementor-widget elementor-widget-heading\" data-id=\"abf5010\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Que se passe-t-il dans l\u2019ataxie de Friedreich ?<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-75a22d6 elementor-widget elementor-widget-text-editor\" data-id=\"75a22d6\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li><strong>Le g\u00e8ne<\/strong> :\u00a0 Le g\u00e8ne d\u00e9fectueux est situ\u00e9 sur la paire de chromosomes n\u00b09. Il a \u00e9t\u00e9 d\u00e9couvert en 1996 par les \u00e9quipes du Pr Ko\u00ebnig et du Pr Pandolfo. L\u2019ataxie de Friedreich est la cons\u00e9quence d\u2019une r\u00e9p\u00e9tition anormale (expansion) de triplets GAA, dans le g\u00e8ne atteint ; la fonction de ce g\u00e8ne est de d\u00e9livrer l\u2019information, sous forme d\u2019un code, permettant de fabriquer une prot\u00e9ine qui se localise finalement dans les mitochondries, nomm\u00e9e \u201cfrataxine\u201d. Dans l\u2019AF, la frataxine est fabriqu\u00e9e en trop faible quantit\u00e9.<\/li><\/ul><ul><li><strong>La frataxine<\/strong> : Chaque cellule contient des mitochondries en nombre variable. Les mitochondries sont des organites intracellulaires indispensables au bon fonctionnement cellulaire. Ce sont elles qui chauffent le corps en \u00ab brulant \u00bb les produits d\u00e9riv\u00e9s des aliments. Elles sont aussi le lieu de la production la plus importante d&#8217;Ad\u00e9nosine TriPhosphate (ATP), le &#8220;carburant&#8221; \u00e9nerg\u00e9tique des cellules, et fabriquent 90% de l\u2019\u00e9nergie cellulaire dont l\u2019organisme a besoin : on pense, on bouge, on respire, on consomme de l\u2019ATP.<br \/>Dans l\u2019ataxie de Friedreich, il y a <strong>d\u00e9ficit de production d\u2019une prot\u00e9ine mitochondriale, la frataxine<\/strong>, provoquant dans certains organes un dysfonctionnement mitochondrial, limitant les assemblages fer-soufre avec accumulation intra-mitochondriale de fer. Cela induit la production de produits toxiques d\u00e9riv\u00e9s de l\u2019oxyg\u00e8ne appel\u00e9s radicaux libres, \u00ab oxydant la cellule qui rouille et meurt \u00bb. D\u2019o\u00f9 la premi\u00e8re id\u00e9e d\u2019essayer des antioxydants, en particulier une quinone, l\u2019idebenone, proche du coenzyme Q10, pour tenter de diminuer ces radicaux libres ; les r\u00e9sultats sont toujours discut\u00e9s et semblent individuels. D\u2019autres pistes sont en cours d\u2019\u00e9tude.<br \/>L\u2019ataxie de Friedreich\u00a0 fait donc partie des nombreuses maladies mitochondriales dues \u00e0 des mutations g\u00e9n\u00e9tiques.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"dce-visibility-event elementor-column elementor-col-50 elementor-inner-column elementor-element elementor-element-86b0f87\" data-id=\"86b0f87\" data-element_type=\"column\" data-e-type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;enabled_visibility&quot;:&quot;yes&quot;,&quot;dce_visibility_selected&quot;:&quot;yes&quot;}\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-fe77231 elementor-widget elementor-widget-text-editor\" data-id=\"fe77231\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><strong>Sch\u00e9mas explicatifs<\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e52d83c elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"e52d83c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-24b68e9 elementor-widget elementor-widget-image\" data-id=\"24b68e9\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"300\" height=\"139\" src=\"https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/10\/Diagnostic-cervelet.jpg\" class=\"attachment-large size-large wp-image-2459\" alt=\"sch\u00e9ma de la position du cervelet\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ce9a0bd elementor-widget elementor-widget-image\" data-id=\"ce9a0bd\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"289\" height=\"507\" src=\"https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/07\/schema-genetique.jpg\" class=\"attachment-large size-large wp-image-1027\" alt=\"\" srcset=\"https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/07\/schema-genetique.jpg 289w, https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/07\/schema-genetique-171x300.jpg 171w\" sizes=\"(max-width: 289px) 100vw, 289px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-d041fc5 elementor-widget elementor-widget-image\" data-id=\"d041fc5\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"294\" height=\"284\" src=\"https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/11\/cellule-humaine.png\" class=\"attachment-large size-large wp-image-3051\" alt=\"Sch\u00e9ma d&apos;une cellule humaine\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-93be2f6 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"93be2f6\" data-element_type=\"section\" data-e-type=\"section\" id=\"comment-affirmer-le-diagnostic\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-fea89d8\" data-id=\"fea89d8\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-afcc0d4 elementor-widget elementor-widget-heading\" data-id=\"afcc0d4\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Comment affirmer le diagnostic ?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-718acbd elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"718acbd\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-d7e445c elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"d7e445c\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-custom\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-inner-column elementor-element elementor-element-311d978\" data-id=\"311d978\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-3f9aa73 elementor-widget elementor-widget-text-editor\" data-id=\"3f9aa73\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Depuis 1997, on <strong>peut affirmer le diagnostic par un test de biologie mol\u00e9culaire<\/strong> r\u00e9alis\u00e9 sur prise de sang. Ce test ne peut \u00eatre pratiqu\u00e9 que dans un Centre Hospitalier Universitaire, par un g\u00e9n\u00e9ticien en coordination avec un neurologue, et souvent avec un psychologue. <strong>Le r\u00e9sultat ne doit \u00eatre donn\u00e9 que dans le cadre d\u2019une consultation.<\/strong> La famille peut b\u00e9n\u00e9ficier d\u2019une consultation dans un service de g\u00e9n\u00e9tique pour r\u00e9pondre \u00e0 ses divers questionnements. Vous souhaitez savoir pourquoi et o\u00f9 pratiquer un test g\u00e9n\u00e9tique ? Consultez notre rubrique <b> <a href=\"https:\/\/www.afaf.asso.fr\/la-maladie\/transmission\/#effectuer-un-test-g\u00e9n\u00e9tique\">Effectuer un test g\u00e9n\u00e9tique<\/a><\/b><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-inner-column elementor-element elementor-element-63c83e3\" data-id=\"63c83e3\" data-element_type=\"column\" data-e-type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-6703a10 elementor-widget elementor-widget-text-editor\" data-id=\"6703a10\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><strong>Liens utiles<\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ed262e7 elementor-widget-divider--view-line elementor-widget elementor-widget-divider\" data-id=\"ed262e7\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"divider.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-divider\">\n\t\t\t<span class=\"elementor-divider-separator\">\n\t\t\t\t\t\t<\/span>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-46c56e5 liens2-colonne-laterale nouvelle-fenetre elementor-widget elementor-widget-text-editor\" data-id=\"46c56e5\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li>Liste des <a href=\"http:\/\/www.orpha.net\/consor\/cgi-bin\/ClinicalLabs.php?lng=FR\" target=\"_blank\" rel=\"noopener\"> consultations g\u00e9n\u00e9tiques sur www.orpha.net<\/a><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<div class=\"elementor-element elementor-element-2721bbc elementor-position-inline-start elementor-view-default elementor-mobile-position-block-start elementor-widget elementor-widget-icon-box\" data-id=\"2721bbc\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-box.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-icon-box-wrapper\">\n\n\t\t\t\t\t\t<div class=\"elementor-icon-box-icon\">\n\t\t\t\t<span  class=\"elementor-icon\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-info-circle\"><\/i>\t\t\t\t<\/span>\n\t\t\t<\/div>\n\t\t\t\n\t\t\t\t\t\t<div class=\"elementor-icon-box-content\">\n\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t<p class=\"elementor-icon-box-description\">\n\t\t\t\t\t\t<ul>\n \t<li>La connaissance des m\u00e9canismes de la maladie et de ses r\u00e9percussions a beaucoup progress\u00e9 mais elle doit encore \u00eatre affin\u00e9e. C\u2019est pourquoi il y a toujours des \u00e9tudes sur \u00ab l\u2019histoire naturelle de la maladie \u00bb pour mieux la comprendre, et des travaux en recherche fondamentale pour diss\u00e9quer la biochimie intracellulaire (processus chimiques biologiques).<\/li>\n \t<li>Mieux comprendre les m\u00e9canismes de la maladie d\u00e9bouche sur des pistes de th\u00e9rapie. <\/li>\n \t<li>Plusieurs essais cliniques de mol\u00e9cules font entrevoir des th\u00e9rapies d\u00e8s 2024.<\/li>\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-8b9661f elementor-section-full_width elementor-section-stretched elementor-section-height-default elementor-section-height-default\" data-id=\"8b9661f\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;stretch_section&quot;:&quot;section-stretched&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-40214b2\" data-id=\"40214b2\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-d31c840 elementor-widget elementor-widget-shortcode\" data-id=\"d31c840\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"shortcode.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-shortcode\">\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"578\" class=\"elementor elementor-578\" data-elementor-post-type=\"oceanwp_library\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-43c347e elementor-section-stretched elementor-section-content-middle elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"43c347e\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;stretch_section&quot;:&quot;section-stretched&quot;,&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-186798c\" data-id=\"186798c\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-04bb719 elementor-widget elementor-widget-image\" data-id=\"04bb719\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" src=\"https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/elementor\/thumbs\/Logo-blanc_simple-1-q1ww1nh0svlc8x6kbcgbj84qq17mf0pfy8gdrayk1s.png\" title=\"Logo blanc_simple\" alt=\"logo AFAF (Association Fran\u00e7aise Ataxie Friedreich)\" loading=\"lazy\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-301d943\" data-id=\"301d943\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-2b47be8 elementor-widget elementor-widget-text-editor\" data-id=\"2b47be8\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Avancer ensemble,<\/p><p>C&#8217;est aussi pouvoir compter sur votre aide !<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-a663678 elementor-align-left elementor-mobile-align-left elementor-widget elementor-widget-button\" data-id=\"a663678\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-lg elementor-animation-grow\" href=\"https:\/\/www.afaf.asso.fr\/nous-soutenir\/donner\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Je fais un don<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>L&#8217;ataxie de Friedreich est une maladie pour l&#8217;essentiel neurologique, \u00e9volutive, rare,\u00a0 g\u00e9n\u00e9tique, li\u00e9e \u00e0 un dysfonctionnement mitochondrial. Elle a \u00e9t\u00e9 d\u00e9crite pour la premi\u00e8re fois en 1881 par le neurologue allemand Nicolaus Friedreich. Une maladie neurologique : une ataxie est une incoordination des mouvements volontaires dans le temps et dans l\u2019espace par atteinte du cervelet [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":510,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_monsterinsights_skip_tracking":false,"ocean_front_end_style_editor":"no","ocean_post_layout":"full-screen","ocean_both_sidebars_style":"","ocean_both_sidebars_content_width":0,"ocean_both_sidebars_sidebars_width":0,"ocean_sidebar":"0","ocean_second_sidebar":"0","ocean_disable_margins":"enable","ocean_add_body_class":"","ocean_shortcode_before_top_bar":"","ocean_shortcode_after_top_bar":"","ocean_shortcode_before_header":"","ocean_shortcode_after_header":"","ocean_has_shortcode":"","ocean_shortcode_after_title":"","ocean_shortcode_before_footer_widgets":"","ocean_shortcode_after_footer_widgets":"","ocean_shortcode_before_footer_bottom":"","ocean_shortcode_after_footer_bottom":"","ocean_display_top_bar":"default","ocean_display_header":"default","ocean_header_style":"","ocean_center_header_left_menu":"0","ocean_custom_header_template":"0","ocean_custom_logo":0,"ocean_custom_retina_logo":0,"ocean_custom_logo_max_width":0,"ocean_custom_logo_tablet_max_width":0,"ocean_custom_logo_mobile_max_width":0,"ocean_custom_logo_max_height":0,"ocean_custom_logo_tablet_max_height":0,"ocean_custom_logo_mobile_max_height":0,"ocean_header_custom_menu":"0","ocean_menu_typo_font_family":"0","ocean_menu_typo_font_subset":"","ocean_menu_typo_font_size":0,"ocean_menu_typo_font_size_tablet":0,"ocean_menu_typo_font_size_mobile":0,"ocean_menu_typo_font_size_unit":"px","ocean_menu_typo_font_weight":"","ocean_menu_typo_font_weight_tablet":"","ocean_menu_typo_font_weight_mobile":"","ocean_menu_typo_transform":"","ocean_menu_typo_transform_tablet":"","ocean_menu_typo_transform_mobile":"","ocean_menu_typo_line_height":0,"ocean_menu_typo_line_height_tablet":0,"ocean_menu_typo_line_height_mobile":0,"ocean_menu_typo_line_height_unit":"","ocean_menu_typo_spacing":0,"ocean_menu_typo_spacing_tablet":0,"ocean_menu_typo_spacing_mobile":0,"ocean_menu_typo_spacing_unit":"","ocean_menu_link_color":"","ocean_menu_link_color_hover":"","ocean_menu_link_color_active":"","ocean_menu_link_background":"","ocean_menu_link_hover_background":"","ocean_menu_link_active_background":"","ocean_menu_social_links_bg":"","ocean_menu_social_hover_links_bg":"","ocean_menu_social_links_color":"","ocean_menu_social_hover_links_color":"","ocean_disable_title":"enable","ocean_disable_heading":"default","ocean_post_title":"","ocean_post_subheading":"","ocean_post_title_style":"","ocean_post_title_background_color":"","ocean_post_title_background":0,"ocean_post_title_bg_image_position":"","ocean_post_title_bg_image_attachment":"","ocean_post_title_bg_image_repeat":"","ocean_post_title_bg_image_size":"","ocean_post_title_height":0,"ocean_post_title_bg_overlay":0.5,"ocean_post_title_bg_overlay_color":"","ocean_disable_breadcrumbs":"on","ocean_breadcrumbs_color":"","ocean_breadcrumbs_separator_color":"","ocean_breadcrumbs_links_color":"","ocean_breadcrumbs_links_hover_color":"","ocean_display_footer_widgets":"default","ocean_display_footer_bottom":"default","ocean_custom_footer_template":"0","footnotes":""},"class_list":["post-570","page","type-page","status-publish","hentry","entry","owp-thumbs-layout-horizontal","owp-btn-normal","owp-tabs-layout-section","has-no-thumbnails"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>L&#039;ataxie de Friedreich - Association Fran\u00e7aise Ataxie de Friedreich<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.afaf.asso.fr\/la-maladie\/ataxie-friedreich\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"L&#039;ataxie de Friedreich - Association Fran\u00e7aise Ataxie de Friedreich\" \/>\n<meta property=\"og:description\" content=\"L&#8217;ataxie de Friedreich est une maladie pour l&#8217;essentiel neurologique, \u00e9volutive, rare,\u00a0 g\u00e9n\u00e9tique, li\u00e9e \u00e0 un dysfonctionnement mitochondrial. Elle a \u00e9t\u00e9 d\u00e9crite pour la premi\u00e8re fois en 1881 par le neurologue allemand Nicolaus Friedreich. Une maladie neurologique : une ataxie est une incoordination des mouvements volontaires dans le temps et dans l\u2019espace par atteinte du cervelet [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.afaf.asso.fr\/la-maladie\/ataxie-friedreich\/\" \/>\n<meta property=\"og:site_name\" content=\"Association Fran\u00e7aise Ataxie de Friedreich\" \/>\n<meta property=\"article:modified_time\" content=\"2023-01-31T13:47:08+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.afaf.asso.fr\/wp-content\/uploads\/2022\/07\/schema-adn-cellule.jpg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data1\" content=\"9 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/la-maladie\\\/ataxie-friedreich\\\/\",\"url\":\"https:\\\/\\\/www.afaf.asso.fr\\\/la-maladie\\\/ataxie-friedreich\\\/\",\"name\":\"L'ataxie de Friedreich - Association Fran\u00e7aise Ataxie de Friedreich\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/la-maladie\\\/ataxie-friedreich\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/la-maladie\\\/ataxie-friedreich\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/www.afaf.asso.fr\\\/wp-content\\\/uploads\\\/2022\\\/07\\\/schema-adn-cellule.jpg\",\"datePublished\":\"2022-06-28T12:44:42+00:00\",\"dateModified\":\"2023-01-31T13:47:08+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/la-maladie\\\/ataxie-friedreich\\\/#breadcrumb\"},\"inLanguage\":\"fr-FR\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/www.afaf.asso.fr\\\/la-maladie\\\/ataxie-friedreich\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/la-maladie\\\/ataxie-friedreich\\\/#primaryimage\",\"url\":\"https:\\\/\\\/www.afaf.asso.fr\\\/wp-content\\\/uploads\\\/2022\\\/07\\\/schema-adn-cellule.jpg\",\"contentUrl\":\"https:\\\/\\\/www.afaf.asso.fr\\\/wp-content\\\/uploads\\\/2022\\\/07\\\/schema-adn-cellule.jpg\",\"width\":1024,\"height\":375},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/la-maladie\\\/ataxie-friedreich\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Accueil\",\"item\":\"https:\\\/\\\/www.afaf.asso.fr\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"La maladie\",\"item\":\"https:\\\/\\\/www.afaf.asso.fr\\\/la-maladie\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"L&rsquo;ataxie de Friedreich\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/#website\",\"url\":\"https:\\\/\\\/www.afaf.asso.fr\\\/\",\"name\":\"Association Fran\u00e7aise Ataxie de Friedreich\",\"description\":\"Association Fran\u00e7aise de l&#039;Ataxie de Friedreich\",\"publisher\":{\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/www.afaf.asso.fr\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"fr-FR\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/#organization\",\"name\":\"Association Fran\u00e7aise Ataxie de Friedreich\",\"url\":\"https:\\\/\\\/www.afaf.asso.fr\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/www.afaf.asso.fr\\\/wp-content\\\/uploads\\\/2022\\\/06\\\/Logo-vert.png\",\"contentUrl\":\"https:\\\/\\\/www.afaf.asso.fr\\\/wp-content\\\/uploads\\\/2022\\\/06\\\/Logo-vert.png\",\"width\":1181,\"height\":709,\"caption\":\"Association Fran\u00e7aise Ataxie de Friedreich\"},\"image\":{\"@id\":\"https:\\\/\\\/www.afaf.asso.fr\\\/#\\\/schema\\\/logo\\\/image\\\/\"}}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"L'ataxie de Friedreich - Association Fran\u00e7aise Ataxie de Friedreich","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.afaf.asso.fr\/la-maladie\/ataxie-friedreich\/","og_locale":"fr_FR","og_type":"article","og_title":"L'ataxie de Friedreich - Association Fran\u00e7aise Ataxie de Friedreich","og_description":"L&#8217;ataxie de Friedreich est une maladie pour l&#8217;essentiel neurologique, \u00e9volutive, rare,\u00a0 g\u00e9n\u00e9tique, li\u00e9e \u00e0 un dysfonctionnement mitochondrial. 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