{"id":2802,"date":"2020-11-08T12:02:32","date_gmt":"2020-11-08T12:02:32","guid":{"rendered":"https:\/\/dermatly.com\/sindrome-de-angelman\/"},"modified":"2026-03-10T14:37:04","modified_gmt":"2026-03-10T14:37:04","slug":"angelman-syndrom","status":"publish","type":"glossary","link":"https:\/\/dermatly.com\/de\/sindrome-de-angelman\/","title":{"rendered":"S\u00edndrome de angelman"},"content":{"rendered":"<section class=\"textBlock\">\n<h1>\u00bfQu\u00e9 es el S\u00edndrome de Angelman?<\/h1>\n<p class=\"normal\">El s\u00edndrome de Angelman es un trastorno <span class=\"term\" data-term-id=\"402\">neurol\u00f3gico<\/span> poco frecuente que afecta aproximadamente a 1 de cada 15,000 nacimientos. Hist\u00f3ricamente, se confund\u00eda con otras condiciones como la par\u00e1lisis <span class=\"term\" data-term-id=\"1568\">cerebral<\/span> o el autismo, debido a su complejo <span class=\"term\" data-term-id=\"1860\">formaci\u00f3n<\/span> de s\u00edntomas distintivos.<\/p>\n<p class=\"normal\">Este s\u00edndrome fue nombrado en honor al Dr. Harry Angelman, quien describi\u00f3 la afecci\u00f3n por primera vez en 1965.<\/p>\n<h2>\u00bfA qui\u00e9n afecta el S\u00edndrome de Angelman?<\/h2>\n<p class=\"normal\">La naturaleza del s\u00edndrome de Angelman es predominantemente espor\u00e1dica:<\/p>\n<ul>\n<li>La gran mayor\u00eda de las personas que padecen el s\u00edndrome de Angelman no tienen antecedentes familiares conocidos de la afecci\u00f3n.<\/li>\n<li>En un porcentaje reducido de casos, la condici\u00f3n puede ser hereditaria de uno de los progenitores.<\/li>\n<li>La literatura m\u00e9dica no se\u00f1ala predilecciones espec\u00edficas basadas en raza o sexo.<\/li>\n<\/ul>\n<h2>\u00bfCu\u00e1l es la causa gen\u00e9tica del S\u00edndrome de Angelman?<\/h2>\n<p class=\"normal\">El s\u00edndrome de Angelman es de origen <span class=\"term\" data-term-id=\"558\">gen\u00e9tico<\/span>. Las alteraciones gen\u00e9ticas pueden surgir de manera <span class=\"term\" data-term-id=\"2233\">aleatoria<\/span>, incluso en ausencia de antecedentes familiares de este trastorno.<\/p>\n<ul>\n<li>Se origina por la p\u00e9rdida de expresi\u00f3n de la copia materna del <span class=\"term\" data-term-id=\"774\">gen<\/span> <em>UBE3A<\/em>, que se localiza en el <span class=\"term\" data-term-id=\"1271\">cromosoma<\/span> 15q11.2-q13OCA2.<\/li>\n<li>La deleci\u00f3n cromos\u00f3mica es responsable entre el 65% y el 75% de los casos.<\/li>\n<li>Las <span class=\"term\" data-term-id=\"871\">mutaciones<\/span> del gen materno afectan entre el 5% y el 11% de los pacientes.<\/li>\n<li>La disom\u00eda uniparental paterna (pUPD, donde ambas copias cromos\u00f3micas provienen del padre) incide en el 3% al 7% de los casos.<\/li>\n<li>Un defecto de impronta materna es la causa en aproximadamente el 3% de los diagn\u00f3sticos.<\/li>\n<\/ul>\n<p>El <span class=\"term tooltipstered\" data-term-id=\"350\">s\u00edndrome<\/span> de Prader-Willi es un trastorno cl\u00ednicamente diferenciado que surge de un defecto de origen paterno mapeado en el mismo sector cromos\u00f3mico que el <span class=\"term tooltipstered\" data-term-id=\"350\">s\u00edndrome<\/span> de Angelman.<\/p>\n<section class=\"textBlock imageLinkBlockTitle\">\n<h2 class=\"colour--primary\">Im\u00e1genes sobre la Gen\u00e9tica del S\u00edndrome de Angelman<\/h2>\n<\/section>\n<section class=\"imageLinkBlock\">\n<div class=\"flex\">\n<div class=\"imageLinkBlock__item__image\">\n                <img decoding=\"async\" src=\"https:\/\/dermatly.com\/wp-content\/uploads\/2020\/11\/9579841Angelman-orig__ProtectWyJQcm90ZWN0Il0_FocusFillWzI5NCwyMjIsIngiLDFd.png\" alt=\"Esquema ilustrando la gen\u00e9tica del s\u00edndrome de Angelman y la regi\u00f3n cromos\u00f3mica implicada.\"><\/p>\n<p class=\"p-small\">Gen\u00e9tica del s\u00edndrome de Angelman<\/p>\n<\/p><\/div>\n<\/p><\/div>\n<\/section>\n<div class=\"clearfix imageLinkBlock\"><\/div>\n<p style=\"font-size: 10px;\">* Imagen cortes\u00eda de Genetics 4 Medics<\/p>\n<div id=\"square-placement-country-holder\" class=\"country-dependent advert\">\n<div class=\"box-placement square-placement\">\n<div class=\"advert__frame\">\n                <!-- \/340621630\/dermnet_mobile_afterfirstsection_300x250 --><\/p>\n<div style=\"display: none;\" id=\"hidden-div-gpt-ad-1484122037505-8\" class=\"[ js-hideable ]\"><\/div>\n<p>                <script>\n                    if (ads_screenwidth < 780 ) {\n                        var inline = document.createElement(\"div\");\n                        var ad = document.createElement(\"div\");\n\n                        ad.id = 'div-gpt-ad-1484122037505-8';\n                        ad.style.height=\"250px\";\n                        ad.style.width=\"300px;\";\n\n                        inline.appendChild(ad);\n                        inline.className = \"inline\";\n                        var placeholder = document.getElementById(\"hidden-div-gpt-ad-1484122037505-8\");\n                        placeholder.parentNode.replaceChild(inline, placeholder);\n                        (function () {\n                            googletag.cmd.push(function () {\n                                googletag.display('div-gpt-ad-1484122037505-8');\n                            });\n                        })();\n                    }\n                <\/script>\n            <\/div>\n<\/p><\/div>\n<\/p><\/div>\n<h2>Caracter\u00edsticas Cl\u00ednicas del S\u00edndrome de Angelman<\/h2>\n<p><span class=\"term\" data-term-id=\"47\">Cut\u00e1neas<\/span>, las manifestaciones cl\u00ednicas del s\u00edndrome de Angelman a menudo incluyen:<\/p>\n<ul>\n<li>Piel <span class=\"term\" data-term-id=\"816\">hipopigmentada<\/span>.<\/li>\n<li>Albinismo <span class=\"term\" data-term-id=\"981\">ocular<\/span> y cut\u00e1neo.<\/li>\n<li>Deficiencia en el <span class=\"term\" data-term-id=\"231\">pigmento<\/span> de la coroides.<\/li>\n<li>Melanizaci\u00f3n incompleta de los <span class=\"term\" data-term-id=\"1883\">melanosomas<\/span>.<\/li>\n<li>Coloraci\u00f3n azul claro en el iris.<\/li>\n<li>Reducci\u00f3n del pigmento retiniano.<\/li>\n<li>Baja actividad de la <span class=\"term\" data-term-id=\"122\">cabello<\/span> bulbo <span class=\"term\" data-term-id=\"1884\">tirosinasa<\/span>.<\/li>\n<\/ul>\n<p class=\"normal\">Adem\u00e1s de las caracter\u00edsticas cut\u00e1neas, las manifestaciones no cut\u00e1neas del s\u00edndrome de Angelman abarcan <span class=\"term\" data-term-id=\"2254\">convulsiones<\/span>, retrasos <span class=\"term\" data-term-id=\"2342\">de desarrollo<\/span>, lenguaje limitado o ausente, alteraciones en la movilidad, una sonrisa frecuentemente aumentada, personalidad alegre y excitable, aleteo de las manos, patrones de sue\u00f1o an\u00f3malos y <span class=\"term\" data-term-id=\"1045\">microcefalia<\/span>.<\/p>\n<h2>Tratamiento para el S\u00edndrome de Angelman<\/h2>\n<p class=\"normal\">Actualmente no existe una cura para el s\u00edndrome de Angelman. La atenci\u00f3n requerida es continua y el tratamiento se enfoca en la gesti\u00f3n sintom\u00e1tica. Este manejo puede incluir:<\/p>\n<ul>\n<li>Medicamentos anticonvulsivos (anti-<span class=\"term\" data-term-id=\"2253\">convulsiones<\/span>), como el valproato de sodio, administrado solo o en combinaci\u00f3n con clonazepam u otra benzodiazepina.<\/li>\n<li>Terapia de comunicaci\u00f3n para instruir a los ni\u00f1os en el uso del lenguaje de <span class=\"term\" data-term-id=\"899\">signos<\/span> o sistemas de im\u00e1genes.<\/li>\n<li>Terapia conductual dise\u00f1ada para asistir en el manejo de la hiperactividad y los per\u00edodos cortos de atenci\u00f3n.<\/li>\n<\/ul>\n<h2>Pron\u00f3stico del S\u00edndrome de Angelman<\/h2>\n<p class=\"normal\">A pesar de las m\u00faltiples limitaciones funcionales asociadas, la esperanza de vida para los pacientes con s\u00edndrome de Angelman suele ser normal. Conforme envejecen, es com\u00fan que los pacientes experimenten una reducci\u00f3n en la excitabilidad y superen las <span class=\"term\" data-term-id=\"1935\">anormalidades<\/span> del ciclo del sue\u00f1o.<\/p>\n<\/section>\n","protected":false},"excerpt":{"rendered":"<p>\u00bfQu\u00e9 es el S\u00edndrome de Angelman? El s\u00edndrome de Angelman es un trastorno neurol\u00f3gico poco frecuente que afecta aproximadamente a 1 de cada 15,000 nacimientos. Hist\u00f3ricamente, se confund\u00eda con otras condiciones como la par\u00e1lisis cerebral o el autismo, debido a su complejo formaci\u00f3n de s\u00edntomas distintivos. Este s\u00edndrome fue nombrado en honor al Dr. Harry [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":2804,"parent":0,"template":"","glossary-cat":[],"class_list":["post-2802","glossary","type-glossary","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v26.2 (Yoast SEO v27.1.1) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>S\u00edndrome de angelman - Dermatly.com - El sitio de tu piel<\/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:\/\/dermatly.com\/de\/angelman-syndrom\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"S\u00edndrome de angelman\" \/>\n<meta property=\"og:description\" content=\"\u00bfQu\u00e9 es el S\u00edndrome de Angelman? 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