see publications<\/a>). More individuals will be diagnosed as genomic testing is more commonly used for undiagnosed intellectual disability.<\/p>\n[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1″ admin_label=\u00bbVideo\u00bb _builder_version=\u00bb4.16″ background_color=\u00bb#3a897e\u00bb custom_padding=\u00bb0|1px|0|0px|false|false\u00bb collapsed=\u00bboff\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_row _builder_version=\u00bb4.16″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_column type=\u00bb4_4″ _builder_version=\u00bb4.16″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_divider show_divider=\u00bboff\u00bb _builder_version=\u00bb4.16″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1″ admin_label=\u00bbGet Involved\u00bb _builder_version=\u00bb4.16″ background_color=\u00bb#f7f9f9″ 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Varones con enfermedad relacionada con el CLCN4<\/h2>\n
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Hasta ahora se ha comprobado que esta enfermedad es totalmente penetrante en los varones afectados. Sin embargo, la gravedad de los s\u00edntomas puede variar significativamente en una familia. La presencia de un trastorno convulsivo intratable suele asociarse a un fenotipo m\u00e1s grave. A continuaci\u00f3n se resumen las principales caracter\u00edsticas cl\u00ednicas de los varones y mujeres publicados: 1. Discapacidad intelectual (DI):<\/strong> presente en el 100% de los varones afectados. La gravedad de la discapacidad intelectual ha variado desde el l\u00edmite (1\/30: 3%), a leve (7\/30: 23%), moderada 9\/30 (30%) y grave\/profunda (13\/30 :43%). El lenguaje expresivo y receptivo suele ser un \u00e1rea de especial preocupaci\u00f3n. 2. Trastorno convulsivo<\/strong> diagnosticado en el 53% de los varones afectados. Las convulsiones han sido bien controladas en el 44% de los afectados y son intratables a la politerapia en el 55% de los afectados. La semiolog\u00eda de las convulsiones puede variar desde convulsiones infrecuentes, bien controladas con monoterapia, hasta epilepsia infantil grave e intratable, incluso dentro de una misma familia. Los tipos de convulsiones notificados incluyen espasmos infantiles, ausencias, miocl\u00f3nicas, t\u00f3nicas, parciales complejas y t\u00f3nico-cl\u00f3nicas generalizadas. Los hallazgos del EEG incluyen picos focales, picos multifocales y ralentizaci\u00f3n de fondo generalizada. 3. Problemas de comportamiento\/trastornos de salud mental<\/strong> (19\/30 (63%). Algunos varones tienen una personalidad amable, sin comportamientos desafiantes significativos ni problemas de salud mental, pero el 63% tienen problemas de comportamiento o de salud mental significativos, como comportamiento hetero- y auto-agresivo, comportamiento repetitivo de tipo autista u obsesivo-compulsivo e hiperactividad. El 24% de los varones, tienen s\u00edntomas depresivos o de ansiedad incluyendo un diagn\u00f3stico de trastorno bipolar. 4. S\u00edntomas neurol\u00f3gicos adicionales:<\/strong> hipoton\u00eda infantil en 9 varones de 7 familias. Los signos neurol\u00f3gicos adicionales notificados en la infancia incluyen estrabismo (3 varones), discapacidad visual cortical (2 varones), anomal\u00eda de la marcha (1 var\u00f3n), movimientos coreiformes de las extremidades superiores (1 var\u00f3n) y espasticidad evolutiva de las extremidades superiores \/ generalizada en la infancia (2 varones). Ataxia progresiva y\/o espasticidad de las extremidades inferiores se han visto despu\u00e9s de la tercera d\u00e9cada de vida en 4 varones de 2 familias. Se necesitar\u00e1n datos longitudinales adicionales para evaluar la frecuencia de los s\u00edntomas neurol\u00f3gicos progresivos en los varones afectados. 5. Neuroimagen<\/strong> Se observaron anomal\u00edas en la neuroimagen\/neuropatolog\u00eda en 8 varones analizados de 6 familias. Sin embargo, muchos varones no se han sometido a una neuroimagen: la resonancia magn\u00e9tica cerebral fue normal en otros 4 varones. Las anomal\u00edas de la materia blanca y la atrofia cortical eran caracter\u00edsticas: se observ\u00f3 leucomalacia periventricular y\/o dilataci\u00f3n ventricular en la infancia, con caracter\u00edsticas adicionales de mielinizaci\u00f3n retardada y cuerpo calloso hipopl\u00e1sico en la primera infancia y atrofia cortical y en la edad media y avanzada. 6. Par\u00e1metros de crecimiento y dismorfismo:<\/strong> Los rasgos distintivos comunes en los varones de edad avanzada incluyen una cara larga con nariz recta y un ment\u00f3n puntiagudo prominente, que se vuelve m\u00e1s \u00abcuadrado\u00bb con la edad, y una parte media de la cara relativamente plana. Los rasgos faciales no son tan caracter\u00edsticos en los varones m\u00e1s j\u00f3venes. Los par\u00e1metros de crecimiento suelen estar dentro del rango normal, pero muchos individuos mayores tienen un h\u00e1bito corporal delgado y se ha observado tanto micro como macrocefalia. 7. Rasgos adicionales:<\/strong> No se ha informado de ning\u00fan patr\u00f3n consistente de s\u00edntomas extra-neurocognitivos, y muchos rasgos se observan com\u00fanmente en ni\u00f1os con DI de otras causas: incluidos el reflujo gastroesof\u00e1gico y las dificultades tempranas de alimentaci\u00f3n. Ocasionalmente se ha informado de escoliosis, criptorquidia y hernia inguinal.<\/p>\n[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1″ admin_label=\u00bbVideo\u00bb _builder_version=\u00bb4.16″ background_color=\u00bb#3a897e\u00bb custom_padding=\u00bb0|1px|0|0px|false|false\u00bb collapsed=\u00bboff\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_row _builder_version=\u00bb4.16″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_column type=\u00bb4_4″ _builder_version=\u00bb4.16″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_divider show_divider=\u00bboff\u00bb _builder_version=\u00bb4.16″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1″ admin_label=\u00bbGet Involved\u00bb _builder_version=\u00bb4.16″ background_color=\u00bb#f7f9f9″ 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Mujeres heterocigotas con variantes familiares (18 individuos publicados)<\/h2>\n
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Se ha informado de que el fenotipo de las mujeres con variantes familiares de CLCN4 es sorprendentemente variable, yendo desde las aparentemente no afectadas hasta las gravemente afectadas, incluso dentro de una misma familia. Dos mujeres portadoras obligadas de una familia presentaron dificultades sutiles de aprendizaje\/conducta. Una hembra heterocig\u00f3tica de otra familia ten\u00eda una ID grave, un trastorno convulsivo intratable, atrofia cerebral y espasticidad y ataxia progresivas. No se ha encontrado ning\u00fan diagn\u00f3stico alternativo en esta hembra gravemente afectada.<\/p>\n
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Mujeres heterocigotas con variantes de novo (5 individuos publicados)<\/h2>\n
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El fenotipo en las 5 mujeres heterocigotas con variantes de novo de las que se ha informado es m\u00e1s grave y coincide con el fenotipo de los varones hemicigotos.<\/p>\n
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Ponte en contacto. Participa.<\/h2>\n
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Caracter\u00edsticas cl\u00ednicasThe clinical phenotype of CLCN4-related condition can include intellectual disability or specific learning disabilities, autistic features, an increased chance of depression and anxiety, infantile hypotonia, epilepsy, movement disorders including gait disturbance, white matter changes on cerebral imaging, feeding difficulties, short stature\/ failure to thrive and functional bowel abnormalities. To date clinical information is published […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-2070","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2070","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/comments?post=2070"}],"version-history":[{"count":9,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2070\/revisions"}],"predecessor-version":[{"id":7523,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2070\/revisions\/7523"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/media?parent=2070"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}