{"id":333539,"date":"2026-08-21T07:22:48","date_gmt":"2026-08-21T10:22:48","guid":{"rendered":"https:\/\/diariotextual.com\/inicio\/?p=333539"},"modified":"2026-08-21T07:22:50","modified_gmt":"2026-08-21T10:22:50","slug":"diputada-pide-analisis-para-detectar-la-atrofia-muscular-espinal-en-recien-nacidos-de-la-pampa","status":"publish","type":"post","link":"https:\/\/diariotextual.com\/inicio\/index.php\/2026\/08\/21\/diputada-pide-analisis-para-detectar-la-atrofia-muscular-espinal-en-recien-nacidos-de-la-pampa\/","title":{"rendered":"Diputada pide an\u00e1lisis para detectar la atrofia muscular espinal en reci\u00e9n nacidos de La Pampa"},"content":{"rendered":"\n<p>La diputada provincial <strong>Ana Mar\u00eda Guissi<\/strong> (<strong>Frejupa, peronismo<\/strong>) present\u00f3 un proyecto de ley en el que solicita al <strong>Poder Ejecutivo Provincial<\/strong> que, a trav\u00e9s del <strong>Ministerio de Salud<\/strong>, analice la posibilidad de incluir en las <strong>pesquisas neonatales<\/strong> el cribado de la <strong>atrofia muscular espinal (AME)<\/strong>.<\/p>\n\n\n\n<p>La <strong>Atrofia Muscular Espinal (AME)<\/strong> es una enfermedad <strong>hereditaria, degenerativa y discapacitante<\/strong> que destruye progresivamente las neuronas motoras que controlan la actividad esencial del m\u00fasculo esquel\u00e9tico, como <strong>hablar, caminar, respirar y tragar<\/strong>, lo que provoca debilidad y atrofia muscular.<\/p>\n\n\n\n<p>La enfermedad es causada por una mutaci\u00f3n en el <strong>gen 1 de la neurona motora de supervivencia (SMN1)<\/strong>. En una persona sana, este gen produce una prote\u00edna fundamental para el funcionamiento de los nervios que controlan los m\u00fasculos. Sin esta prote\u00edna, esas c\u00e9lulas nerviosas no pueden funcionar correctamente.<\/p>\n\n\n\n<p>La <strong>AME es considerada una Enfermedad Poco Frecuente (EPF)<\/strong> y es la <strong>principal causa de mortalidad de origen gen\u00e9tico en la infancia<\/strong>, con una incidencia de entre <strong>1 cada 6.000 y 11.000 nacidos vivos<\/strong>, seg\u00fan distintos estudios cient\u00edficos. El gen defectuoso causante de esta enfermedad es portado por aproximadamente <strong>1 de cada 40 personas<\/strong>.<\/p>\n\n\n\n<p>La enfermedad deteriora la <strong>motricidad y las funciones respiratorias y digestivas<\/strong> y puede agravar el cuadro cl\u00ednico inicial cuando no existe un acceso oportuno al tratamiento. Por ello, la <strong>detecci\u00f3n temprana<\/strong> resulta fundamental para iniciar el tratamiento en una fase inicial y conseguir frenar el curso natural de la AME.<\/p>\n\n\n\n<p>Seg\u00fan explic\u00f3 <strong>Guissi<\/strong>, la realizaci\u00f3n de la prueba en los reci\u00e9n nacidos para detectar la AME permitir\u00eda una <strong>identificaci\u00f3n precoz<\/strong> de las personas afectadas y posibilitar\u00eda iniciar el tratamiento <strong>antes de la presentaci\u00f3n de los s\u00edntomas<\/strong>.<\/p>\n\n\n\n<p>\u201c<strong>Diagnosticar a tiempo permite abrir una ventana de oportunidades para su tratamiento que permitir\u00e1 garantizar tiempo para frenar el avance degenerativo de los s\u00edntomas, por ello consideramos de suma importancia la inclusi\u00f3n de esta pr\u00e1ctica en las pesquisas neonatales<\/strong>\u201d, expres\u00f3.<\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>La diputada provincial Ana Mar\u00eda Guissi (Frejupa, peronismo) present\u00f3 un proyecto de ley en el que solicita al Poder Ejecutivo Provincial que, a trav\u00e9s del Ministerio de Salud, analice la&hellip;<\/p>\n","protected":false},"author":3,"featured_media":317197,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[4,12],"tags":[],"class_list":["post-333539","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-destacadas","category-sociedad"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Diputada pide an\u00e1lisis para detectar la atrofia muscular espinal en reci\u00e9n nacidos de La Pampa - Diario Textual<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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