{"id":7910,"date":"2025-07-20T19:06:53","date_gmt":"2025-07-20T19:06:53","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7910"},"modified":"2026-06-22T16:28:49","modified_gmt":"2026-06-22T16:28:49","slug":"distrofias-musculares-congenitas","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/distrofias-musculares-congenitas\/","title":{"rendered":"Congenital muscular dystrophies."},"content":{"rendered":"<h2 class=\"wp-block-heading\">Distrofias Musculares Cong\u00e9nitas (DMC)<\/h2>\n\n\n\n<p>Las distrofias musculares cong\u00e9nitas constituyen un grupo gen\u00e9ticamente heterog\u00e9neo de miopat\u00edas hereditarias caracterizadas por debilidad muscular progresiva y hallazgos distr\u00f3ficos en la biopsia muscular presentes desde el nacimiento o la primera infancia.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Clasificaci\u00f3n Principal<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n    <li><strong>Deficiencia de Merosina (LAMA2-RD):<\/strong> Causada por mutaciones en el gen LAMA2. Cursa con marcada hipoton\u00eda y retraso motor.<\/li>\n    <li><strong>Colagenopat\u00edas tipo VI:<\/strong> Distrofia muscular cong\u00e9nita de Ullrich y miopat\u00eda de Bethlem, caracterizadas por hiperlaxitud distal y contracturas proximales.<\/li>\n    <li><strong>Distroglicanopat\u00edas:<\/strong> Defectos en la glicosilaci\u00f3n del alfa-distroglicano. Asocian frecuentemente malformaciones cerebrales (como el s\u00edndrome de Walker-Warburg o la enfermedad de muscle-eye-brain) y afectaci\u00f3n ocular.<\/li>\n<\/ul>","protected":false},"excerpt":{"rendered":"<p>Distrofias Musculares Cong\u00e9nitas (DMC) Las distrofias musculares cong\u00e9nitas constituyen un grupo gen\u00e9ticamente heterog\u00e9neo de miopat\u00edas hereditarias caracterizadas por debilidad muscular progresiva y hallazgos distr\u00f3ficos en la biopsia muscular presentes desde el nacimiento o la primera infancia. Clasificaci\u00f3n Principal Deficiencia de Merosina (LAMA2-RD): Causada por mutaciones en el gen LAMA2. Cursa con marcada hipoton\u00eda y retraso &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/distrofias-musculares-congenitas\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abDistrofias musculares cong\u00e9nitas.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":7911,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[11],"tags":[],"class_list":["post-7910","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neuromuscular","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7910","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=7910"}],"version-history":[{"count":2,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7910\/revisions"}],"predecessor-version":[{"id":8275,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7910\/revisions\/8275"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/7911"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=7910"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=7910"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=7910"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}