{"id":9752,"date":"2024-02-16T06:57:34","date_gmt":"2024-02-16T06:57:34","guid":{"rendered":"https:\/\/sindromecharge.es\/index.php\/2024\/02\/16\/laura-mama-de-amelie-y-cofundadora-de-la-asociacion-ctnnb1-la-soledad-inicial-va-acompanada-de-miedo-e-incertidumbre\/"},"modified":"2024-02-16T06:57:34","modified_gmt":"2024-02-16T06:57:34","slug":"laura-mama-de-amelie-y-cofundadora-de-la-asociacion-ctnnb1-la-soledad-inicial-va-acompanada-de-miedo-e-incertidumbre","status":"publish","type":"post","link":"https:\/\/sindromecharge.es\/index.php\/2024\/02\/16\/laura-mama-de-amelie-y-cofundadora-de-la-asociacion-ctnnb1-la-soledad-inicial-va-acompanada-de-miedo-e-incertidumbre\/","title":{"rendered":"Laura, mam\u00e1 de Am\u00e9lie y cofundadora de la Asociaci\u00f3n CTNNB1: \u00abA las familias afectadas por enfermedades raras nos une la soledad inicial\u00bb"},"content":{"rendered":"

Leemos en Discapacidad la siguiente noticia que os reproducimos de forma \u00edntegra: <\/p>\n

\n

CTNNB1<\/b> es una enfermedad rara causada por mutaciones en ese mismo gen, el encargado de codificar la prote\u00edna beta-catenina. Esta condici\u00f3n afecta principalmente al sistema nervioso<\/a> central, causando una variedad de s\u00edntomas neurol\u00f3gicos graves y discapacidades intelectuales<\/a>. Los pacientes con CTNNB1 a menudo experimentan retraso en el desarrollo, convulsiones<\/b>, hipoton\u00eda muscular y problemas de movimiento, as\u00ed como dificultades en el habla y la coordinaci\u00f3n motora<\/b>. <\/p>\n

Dado que es una enfermedad poco com\u00fan y poco comprendida, el diagn\u00f3stico puede ser desafiante y requiere pruebas gen\u00e9ticas espec\u00edficas. El tratamiento se centra en gestionar los s\u00edntomas y mejorar la calidad de vida del paciente<\/b>, ya que actualmente no existe una cura espec\u00edfica para CTNNB1.<\/p>\n

Los avances en la investigaci\u00f3n gen\u00e9tica est\u00e1n proporcionando una mejor comprensi\u00f3n de CTNNB1 y ofreciendo esperanza para terapias potenciales en el futuro<\/b>. Los esfuerzos para desarrollar tratamientos espec\u00edficos est\u00e1n en marcha, incluyendo terapias g\u00e9nicas y enfoques farmacol\u00f3gicos que apuntan a la v\u00eda de se\u00f1alizaci\u00f3n Wnt, en la que est\u00e1 implicada la prote\u00edna beta-catenina. Sin embargo, debido a la rareza de la enfermedad y la complejidad de su mecanismo molecular, todav\u00eda se necesitan m\u00e1s investigaciones y colaboraciones internacionales<\/b> para avanzar en el conocimiento y el tratamiento de CTNNB1.<\/p>\n

Laura <\/b>es la mam\u00e1 de Am\u00e9lie<\/b>, de cinco a\u00f1os y diagnosticada con esta enfermedad.<\/p>\n<\/div>\n

Fuente: Discapacidad https:\/\/www.20minutos.es\/noticia\/5218114\/0\/laura-mama-de-amelie-y-cofundadora-de-la-asociacion-ctnnb1-la-soledad-inicial-va-acompanada-de-miedo-e-incertidumbre\/<\/p>\n","protected":false},"excerpt":{"rendered":"

CTNNB1 es una enfermedad rara causada por mutaciones en ese mismo gen, el encargado de codificar la prote\u00edna beta-catenina. Esta condici\u00f3n afecta principalmente…<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-9752","post","type-post","status-publish","format-standard","hentry","category-noticias"],"yoast_head":"\nLaura, mam\u00e1 de Am\u00e9lie y cofundadora de la Asociaci\u00f3n CTNNB1: "A las familias afectadas por enfermedades raras nos une la soledad inicial" - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge<\/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:\/\/sindromecharge.es\/index.php\/2024\/02\/16\/laura-mama-de-amelie-y-cofundadora-de-la-asociacion-ctnnb1-la-soledad-inicial-va-acompanada-de-miedo-e-incertidumbre\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Laura, mam\u00e1 de Am\u00e9lie y cofundadora de la Asociaci\u00f3n CTNNB1: "A las familias afectadas por enfermedades raras nos une la soledad inicial" - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge\" \/>\n<meta property=\"og:description\" content=\"CTNNB1 es una enfermedad rara causada por mutaciones en ese mismo gen, el encargado de codificar la prote\u00edna beta-catenina. 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