{"id":266,"date":"2023-11-25T09:56:19","date_gmt":"2023-11-25T09:56:19","guid":{"rendered":"https:\/\/www.mct8.info\/?page_id=266"},"modified":"2023-12-08T12:25:43","modified_gmt":"2023-12-08T12:25:43","slug":"acerca-del-diagnostico","status":"publish","type":"page","link":"https:\/\/www.mct8.info\/es\/about-mct8-ahds\/acerca-del-diagnostico\/","title":{"rendered":"Acerca del diagn\u00f3stico"},"content":{"rendered":"\n
\n
\n
\n

\u00bfPor qu\u00e9 hay algunos casos que son m\u00e1s graves que otros?<\/h2>\n\n\n\n
    \n
  1. mutaci\u00f3n gen\u00e9tica – aunque se trata del mismo gen que est\u00e1 afectado, su mutaci\u00f3n es diferente;<\/li>\n\n\n\n
  2. la cantidad de hormonas capaces de pasar adentro de las c\u00e9lulas – los casos m\u00e1s graves son aquellos en los que ni siquiera la m\u00e1s peque\u00f1a cantidad de hormonas es capaz de pasar adentro de las c\u00e9lulas.<\/li>\n<\/ol>\n\n\n\n

    \u00bfC\u00f3mo se puede detectar?<\/h2>\n\n\n\n

    La deficiencia de MCT8 (SAHD) es dif\u00edcil de diagnosticar.<\/p>\n\n\n\n

    Las primeras anomal\u00edas observadas, a unos 2 o 3 meses de edad, incluyen el cuerpo fl\u00e1ccido la incapacidad de sostener la cabeza.<\/p>\n\n\n\n

    Las pruebas t\u00edpicas de tiroides que podr\u00edan requerir investigaciones adicionales son el nivel alto de la T3 s\u00e9rica y el nivel al l\u00edmite bajo o el nivel bajo de la T4. Para confirmar el diagn\u00f3stico son necesarias pruebas gen\u00e9ticas.<\/p>\n<\/div>\n\n\n\n

    \n
    \"\"<\/figure>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n

    \u00bfQui\u00e9n puede diagnosticar?<\/h2>\n\n\n\n

    Ya sea un neur\u00f3logo pedi\u00e1trico (visto que involucra el retraso mental y motor) o un endocrin\u00f3logo pedi\u00e1trico (ya que las anomal\u00edas de las pruebas de las hormonas tiroideas son t\u00edpicas del s\u00edndrome)<\/p>\n\n\n\n

    El indicador m\u00e1s com\u00fan es que los ni\u00f1os no pueden sostener sus cabezas. Esta es la primera meta importante del desarrollo de los ni\u00f1os, que se logra a la edad de 3 meses.<\/p>\n\n\n\n

    Pero para los ni\u00f1os con MCT8-SAHD, esto es una dificultad a la cual se enfrentar\u00e1n para toda la vida. Con el tiempo, los ni\u00f1os presentar\u00e1n espasticidad en los miembros superiores e inferiores, mientras el resto del cuerpo permanecer\u00e1 afectado por la hipoton\u00eda.<\/p>\n\n\n\n

    \n
    \n
    \n

    Los s\u00edntomas pueden incluir:<\/h3>\n\n\n\n
      \n
    1. Falta de control de la cabeza<\/li>\n\n\n\n
    2. Hipoton\u00eda central combinada, en la mayor\u00eda de los casos, con hiperton\u00eda perif\u00e9rica<\/li>\n\n\n\n
    3. Discapacidad intelectual<\/li>\n\n\n\n
    4.  Incapacidad para aumentar de peso y para mantenerlo<\/li>\n\n\n\n
    5. Aumento de la frecuencia card\u00edaca – relacionado con la toxicidad elevada de la sangre.<\/li>\n\n\n\n
    6. Retraso motor<\/li>\n\n\n\n
    7. Densidad \u00f3sea baja – se considera que es un s\u00edntoma asociado con la toxicidad elevada de la sangre<\/li>\n\n\n\n
    8. Ataques epil\u00e9pticos<\/li>\n\n\n\n
    9.  Retraso del proceso de mielinizaci\u00f3n<\/li>\n\n\n\n
    10. Problemas para dormir<\/li>\n\n\n\n
    11. Problemas para tragar\/masticar<\/li>\n\n\n\n
    12. Diston\u00eda<\/li>\n\n\n\n
    13.   Espasticidad<\/li>\n\n\n\n
    14.  Sistema inmunitario debilitado – \u00c1cido asc\u00f3rbico<\/li>\n<\/ol>\n\n\n\n

      N.B. Esta respuesta ha sido creada con la ayuda de la comunidad MCT8-SAHD en l\u00ednea. Gracias a todos por compartir sus conocimientos y experiencia.<\/p>\n<\/div>\n\n\n\n

      \n
      \"\"<\/figure>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

      \u00bfPor qu\u00e9 hay algunos casos que son m\u00e1s graves que otros? \u00bfC\u00f3mo se puede detectar? La deficiencia de MCT8 (SAHD) es dif\u00edcil de diagnosticar. Las primeras anomal\u00edas observadas, a unos 2 o 3 meses de edad, incluyen el cuerpo fl\u00e1ccido la incapacidad de sostener la cabeza. Las pruebas t\u00edpicas de tiroides que podr\u00edan requerir investigaciones adicionales […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":262,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-266","page","type-page","status-publish","hentry"],"yoast_head":"\nAcerca del diagn\u00f3stico - MCT8 - AHDS Foundation<\/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.mct8.info\/es\/about-mct8-ahds\/acerca-del-diagnostico\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Acerca del diagn\u00f3stico - MCT8 - AHDS Foundation\" \/>\n<meta property=\"og:description\" content=\"\u00bfPor qu\u00e9 hay algunos casos que son m\u00e1s graves que otros? \u00bfC\u00f3mo se puede detectar? 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