{"id":1222,"date":"2026-09-15T11:56:22","date_gmt":"2026-09-15T11:56:22","guid":{"rendered":"https:\/\/vinculo.codematic.xyz\/?p=1222"},"modified":"2026-10-06T08:27:37","modified_gmt":"2026-10-06T08:27:37","slug":"otro-gran-desconocido-el-sindrome-de-joubert","status":"publish","type":"post","link":"https:\/\/vinculo.codematic.xyz\/?p=1222","title":{"rendered":"Otro gran desconocido: El s\u00edndrome de Joubert."},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"1222\" class=\"elementor elementor-1222\" data-elementor-post-type=\"post\">\n\t\t\t\t<div class=\"elementor-element elementor-element-43fd542 e-flex e-con-boxed e-con e-parent\" data-id=\"43fd542\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-915f1f9 elementor-widget__width-initial elementor-widget elementor-widget-image\" data-id=\"915f1f9\" 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=\"800\" height=\"1000\" src=\"https:\/\/vinculo.codematic.xyz\/wp-content\/uploads\/2026\/09\/sindrome-joubert-819x1024.png\" class=\"attachment-large size-large wp-image-1225\" alt=\"\" srcset=\"https:\/\/vinculo.codematic.xyz\/wp-content\/uploads\/2026\/09\/sindrome-joubert-819x1024.png 819w, https:\/\/vinculo.codematic.xyz\/wp-content\/uploads\/2026\/09\/sindrome-joubert-240x300.png 240w, https:\/\/vinculo.codematic.xyz\/wp-content\/uploads\/2026\/09\/sindrome-joubert-768x960.png 768w, https:\/\/vinculo.codematic.xyz\/wp-content\/uploads\/2026\/09\/sindrome-joubert.png 1080w\" sizes=\"(max-width: 800px) 100vw, 800px\" \/>\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\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-921cdc4 e-flex e-con-boxed e-con e-parent\" data-id=\"921cdc4\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-e6e7fda elementor-widget elementor-widget-text-editor\" data-id=\"e6e7fda\" 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>El s\u00edndrome de Joubert es una enfermedad gen\u00e9tica muy rara, aparece por la ausencia o el bajo grado de desarrollo del vermis del cerebelo. Fue descrito por primera vez en 1969 por Marie Joubert, y, en 1977, por Boltshauser e Isler, desde entonces se han publicado m\u00e1s de 200 casos en la literatura especializada.<br \/><br \/>Se sabe muy poco acerca de cu\u00e1l o cu\u00e1les son los genes que desencadenan la aparici\u00f3n del s\u00edndrome. En ocasiones este s\u00edndrome puede confundirse con el autismo, por compartir determinados s\u00edntomas conductuales.<br \/><br \/>El diagn\u00f3stico se basa principalmente se basa en datos cl\u00ednicos y mediante una resonancia magn\u00e9tica se puede observar la ausencia o falta de la vermis cerebelosa y el indicador \u00absigno del diente molar\u00bb.<br \/><br \/>Principalmente se caracteriza por presentar hipoton\u00eda (p\u00e9rdida del tono muscular) , ataxia (carencia de la coordinaci\u00f3n de movimientos musculares, que se manifiesta en una marcha inestable y desequilibrio), anormalidades oculomotoras (apraxia oculomotora, nistagmus, estrabismo) y retraso general en el desarrollo con importantes dificultades en la expresi\u00f3n del lenguaje.<br \/><br \/>Tambi\u00e9n pueden presentar rasgos faciales distintivos, problemas del sue\u00f1o, espasmos hemifaciales, movimientos de protrusi\u00f3n de la lengua, alteraciones renales, polidactilia, hipersensibilidad a est\u00edmulos, microcefalia\u2026<br \/><br \/>A\u00fan no se ha encontrado un tratamiento efectivo para esta enfermedad, debido a la rareza de la enfermedad, a los pocos casos registrados y la complejidad de la misma. El seguimiento multidisciplinario y tratamiento integral es fundamental, porque bas\u00e1ndonos en los s\u00edntomas y las necesidades individuales de cada persona se pueden organizar estrategias de apoyo e intervenci\u00f3n m\u00e1s adecuadas para promover su desarrollo en las \u00e1reas afectadas y mejorar su calidad de vida.<\/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\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>El s\u00edndrome de Joubert es una enfermedad gen\u00e9tica muy rara, aparece por la ausencia o el bajo grado de desarrollo del vermis del cerebelo. Fue descrito por primera vez en 1969 por Marie Joubert, y, en 1977, por Boltshauser e Isler, desde entonces se han publicado m\u00e1s de 200 casos en la literatura especializada. Se [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":1223,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1222","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categoria"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>S\u00edndrome de Joubert: qu\u00e9 es y caracter\u00edsticas<\/title>\n<meta name=\"description\" content=\"Conoce qu\u00e9 es el s\u00edndrome de Joubert, algunas de sus caracter\u00edsticas y la importancia de comprender las necesidades de cada persona.\" \/>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta 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