{"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 class=\"wp-block-paragraph\">Congenital muscular dystrophies constitute a genetically heterogeneous group of inherited myopathies characterized by progressive muscle weakness and dystrophic findings on muscle biopsy present from birth or early childhood.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Main Classification<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n    <li><strong>Merosine Deficiency (LAMA2-RD):<\/strong> Caused by mutations in the LAMA2 gene. It presents with marked hypotonia and motor delay.<\/li>\n    <li><strong>Type VI collagenopathies:<\/strong> Ullrich congenital muscular dystrophy and Bethlem myopathy, characterized by distal hypermobility and proximal contractures.<\/li>\n    <li><strong>Dystroglycanopathies:<\/strong> Defects in the glycosylation of alpha-dystroglycan. They frequently associate brain malformations (such as Walker-Warburg syndrome or muscle-eye-brain disease) and ocular involvement.<\/li>\n<\/ul>","protected":false},"excerpt":{"rendered":"<p>Congenital Muscular Dystrophies (CMD) Congenital muscular dystrophies constitute a genetically heterogeneous group of hereditary myopathies characterized by progressive muscle weakness and dystrophic findings in muscle biopsy present from birth or early childhood. Main Classification Merosin Deficiency (LAMA2-RD): Caused by mutations in the LAMA2 gene. It presents with marked hypotonia and delay\u2026 <\/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\"> \"Congenital muscular dystrophies.\"<\/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}]}}