{"id":4889,"date":"2024-07-04T02:11:00","date_gmt":"2024-07-04T00:11:00","guid":{"rendered":"https:\/\/psiquiatriamadrid.com\/?p=4889"},"modified":"2024-09-03T14:01:40","modified_gmt":"2024-09-03T12:01:40","slug":"ataxia-cerebelosa-autosomica-dominante-sordera-y-narcolepsia-347-00-g47-419","status":"publish","type":"post","link":"https:\/\/psiquiatriamadrid.com\/index.php\/ataxia-cerebelosa-autosomica-dominante-sordera-y-narcolepsia-347-00-g47-419\/","title":{"rendered":"Ataxia cerebelosa autos\u00f3mica dominante, sordera y narcolepsia (347.00) (G47.419)"},"content":{"rendered":"<p>La <b>Ataxia Cerebelosa Autos\u00f3mica Dominante (ADCA)<\/b>, es una enfermedad gen\u00e9tica rara que afecta al sistema nervioso y causa problemas de movimiento. Esta condici\u00f3n se caracteriza por la degeneraci\u00f3n progresiva del cerebelo, una parte del cerebro que juega un papel crucial en el control muscular.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_52 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title \" >Contenidos<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\" role=\"button\"><label for=\"item-6ab6d4aab5013\" ><span class=\"\"><span style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/label><input aria-label=\"Toggle\" aria-label=\"item-6ab6d4aab5013\"  type=\"checkbox\" id=\"item-6ab6d4aab5013\"><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 eztoc-toggle-hide-by-default' ><ul class='ez-toc-list-level-3'><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/psiquiatriamadrid.com\/index.php\/ataxia-cerebelosa-autosomica-dominante-sordera-y-narcolepsia-347-00-g47-419\/#Sintomas_de_la_Ataxia_Cerebelosa_Autosomica_Dominante\" title=\"S\u00edntomas de la Ataxia Cerebelosa Autos\u00f3mica Dominante\">S\u00edntomas de la Ataxia Cerebelosa Autos\u00f3mica Dominante<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/psiquiatriamadrid.com\/index.php\/ataxia-cerebelosa-autosomica-dominante-sordera-y-narcolepsia-347-00-g47-419\/#Narcolepsia_Un_trastorno_del_sueno_asociado_con_ADCA\" title=\"Narcolepsia: Un trastorno del sue\u00f1o asociado con ADCA\">Narcolepsia: Un trastorno del sue\u00f1o asociado con ADCA<\/a><ul class='ez-toc-list-level-3'><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/psiquiatriamadrid.com\/index.php\/ataxia-cerebelosa-autosomica-dominante-sordera-y-narcolepsia-347-00-g47-419\/#Sintomas_comunes_de_Narcolepsia\" title=\"S\u00edntomas comunes de Narcolepsia\">S\u00edntomas comunes de Narcolepsia<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/psiquiatriamadrid.com\/index.php\/ataxia-cerebelosa-autosomica-dominante-sordera-y-narcolepsia-347-00-g47-419\/#Sordera_como_sintoma_adicional_en_ADCA\" title=\"Sordera como s\u00edntoma adicional en ADCA\">Sordera como s\u00edntoma adicional en ADCA<\/a><ul class='ez-toc-list-level-3'><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/psiquiatriamadrid.com\/index.php\/ataxia-cerebelosa-autosomica-dominante-sordera-y-narcolepsia-347-00-g47-419\/#Causas_geneticas_de_la_Ataxia_Cerebelosa_Autosomica_Dominante\" title=\"Causas gen\u00e9ticas de la Ataxia Cerebelosa Autos\u00f3mica Dominante\">Causas gen\u00e9ticas de la Ataxia Cerebelosa Autos\u00f3mica Dominante<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/psiquiatriamadrid.com\/index.php\/ataxia-cerebelosa-autosomica-dominante-sordera-y-narcolepsia-347-00-g47-419\/#Frequently_Asked_Questions_FAQs\" title=\"Frequently Asked Questions (FAQs)\">Frequently Asked Questions (FAQs)<\/a><\/li><\/ul><\/nav><\/div>\n<h3><span class=\"ez-toc-section\" id=\"Sintomas_de_la_Ataxia_Cerebelosa_Autosomica_Dominante\"><\/span>S\u00edntomas de la Ataxia Cerebelosa Autos\u00f3mica Dominante<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<ul>\n<li><i>Dificultades para caminar o moverse<\/i><\/li>\n<li><i>P\u00e9rdida gradual de coordinaci\u00f3n muscular (ataxia)<\/i><\/li>\n<li><i>Habla arrastrada o dificultad para hablar (disartria)<\/i><\/li>\n<li><i>Movimientos oculares involuntarios r\u00e1pidos e irregulares (nistagmo)<\/i><\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"Narcolepsia_Un_trastorno_del_sueno_asociado_con_ADCA\"><\/span>Narcolepsia: Un trastorno del sue\u00f1o asociado con ADCA<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Adem\u00e1s de los s\u00edntomas mencionados anteriormente, algunos pacientes con ADCA tambi\u00e9n pueden desarrollar narcolepsia. La narcolepsia es un trastorno neurol\u00f3gico cr\u00f3nico que afecta el control del sue\u00f1o y la vigilia. Los individuos con esta condici\u00f3n experimentan somnolencia excesiva durante el d\u00eda y episodios repentinos de sue\u00f1o.<\/p>\n<h3><span class=\"ez-toc-section\" id=\"Sintomas_comunes_de_Narcolepsia\"><\/span>S\u00edntomas comunes de Narcolepsia<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<ol type=\"1\">\n<li>Cataplej\u00eda: una p\u00e9rdida repentina y temporal del tono muscular, a menudo desencadenada por emociones fuertes.<\/li>\n<li>Alucinaciones hipnag\u00f3gicas o hipnop\u00f3mpicas: alucinaciones que ocurren justo antes de quedarse dormido o justo despu\u00e9s de despertar.<\/li>\n<li>Par\u00e1lisis del sue\u00f1o: incapacidad para moverse o hablar mientras se est\u00e1 cayendo en el sue\u00f1o o despertando.<\/li>\n<\/ol>\n<h2><span class=\"ez-toc-section\" id=\"Sordera_como_sintoma_adicional_en_ADCA\"><\/span>Sordera como s\u00edntoma adicional en ADCA<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Otro problema que puede surgir en pacientes con ADCA es la sordera. La sordera neurosensorial, un tipo de p\u00e9rdida auditiva causada por da\u00f1os en el nervio auditivo, es com\u00fanmente reportada. Este trastorno puede ser progresivo y afectar tanto a ni\u00f1os como a adultos.<\/p>\n<h3><span class=\"ez-toc-section\" id=\"Causas_geneticas_de_la_Ataxia_Cerebelosa_Autosomica_Dominante\"><\/span>Causas gen\u00e9ticas de la Ataxia Cerebelosa Autos\u00f3mica Dominante<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>La ADCA es causada por mutaciones gen\u00e9ticas heredadas. Estos cambios gen\u00e9ticos alteran las prote\u00ednas necesarias para el funcionamiento normal de las c\u00e9lulas cerebrales, lo que lleva a su degeneraci\u00f3n gradual. Aunque hay varios genes asociados con esta condici\u00f3n, los m\u00e1s comunes son <b>ATXN1<\/b>, <b>ATXN2<\/b>, <b>ATXN3<\/b>, <i>CACNA1A<\/i>, y <i>PANK2<\/i>.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Frequently_Asked_Questions_FAQs\"><\/span>Frequently Asked Questions (FAQs)<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<dl>\n<dt><strong>\u00bfC\u00f3mo se diagnostica la Ataxia Cerebelosa Autos\u00f3mica Dominante?<\/strong><\/dt>\n<dd>El diagn\u00f3stico de la ADCA se basa en los s\u00edntomas cl\u00ednicos, el historial m\u00e9dico familiar y las pruebas gen\u00e9ticas para identificar mutaciones espec\u00edficas.<\/dd>\n<dt><strong>\u00bfExiste un tratamiento para la Ataxia Cerebelosa Autos\u00f3mica Dominante?<\/strong><\/dt>\n<dd>Aunque no existe una cura para la ADCA, el tratamiento se centra en aliviar los s\u00edntomas y mejorar la calidad de vida del paciente. Esto puede incluir fisioterapia, terapia ocupacional y medicamentos para controlar los s\u00edntomas espec\u00edficos.<\/dd>\n<dt><strong>\u00bfC\u00f3mo afecta esta condici\u00f3n a la esperanza de vida?<\/strong><\/dt>\n<dd>La gravedad de los s\u00edntomas var\u00eda ampliamente entre individuos con ADCA. Algunas personas pueden vivir vidas relativamente normales con manejo sintom\u00e1tico adecuado, mientras que otras pueden experimentar una progresi\u00f3n m\u00e1s r\u00e1pida de los s\u00edntomas que puede afectar su esperanza de vida.<\/dd>\n<\/dl>\n","protected":false},"excerpt":{"rendered":"<p>La Ataxia Cerebelosa Autos\u00f3mica Dominante (ADCA), es una enfermedad gen\u00e9tica rara que afecta al sistema nervioso y causa problemas de movimiento. Esta condici\u00f3n se caracteriza por la degeneraci\u00f3n progresiva del cerebelo, una parte del cerebro que juega un papel crucial en el control muscular. S\u00edntomas de la Ataxia Cerebelosa Autos\u00f3mica Dominante Dificultades para caminar o &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/psiquiatriamadrid.com\/index.php\/ataxia-cerebelosa-autosomica-dominante-sordera-y-narcolepsia-347-00-g47-419\/\" class=\"more-link\">Continuar leyendo<span class=\"screen-reader-text\"> \u00abAtaxia cerebelosa autos\u00f3mica dominante, sordera y narcolepsia (347.00) (G47.419)\u00bb<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":5871,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":"","jetpack_publicize_message":"","jetpack_is_tweetstorm":false,"jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","enabled":false}}},"categories":[19],"tags":[],"class_list":["post-4889","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-dsm"],"jetpack_publicize_connections":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v20.12 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Ataxia cerebelosa autos\u00f3mica dominante, sordera y narcolepsia (347.00) (G47.419)<\/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:\/\/psiquiatriamadrid.com\/index.php\/ataxia-cerebelosa-autosomica-dominante-sordera-y-narcolepsia-347-00-g47-419\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Ataxia cerebelosa autos\u00f3mica dominante, sordera y narcolepsia (347.00) (G47.419)\" \/>\n<meta property=\"og:description\" content=\"La Ataxia Cerebelosa Autos\u00f3mica Dominante (ADCA), es una enfermedad gen\u00e9tica rara que afecta al sistema nervioso y causa problemas de movimiento. 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