{"id":2213,"date":"2026-08-07T15:14:45","date_gmt":"2026-08-07T15:14:45","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2213"},"modified":"2026-08-07T15:14:46","modified_gmt":"2026-08-07T15:14:46","slug":"enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/","title":{"rendered":"Enrichment of an Ehlers-Danlos-like Phenotype in Women with the FMR1 Premutation: A Pilot Study (Contributed by Dr Emily L Casanova)"},"content":{"rendered":"<p>Women who carry the FMR1 premutation are known to be at risk for several fragile X-associated conditions, but connective tissue problems have received relatively little attention. In this pilot study, we found that women with the premutation were much more likely than expected to show features resembling hypermobile Ehlers-Danlos syndrome, including joint hypermobility, chronic pain, and related connective tissue symptoms. Those with this connective tissue phenotype also reported more immune-related symptoms and showed physiological differences consistent with altered autonomic function. Although our study was small and larger studies are needed, these findings suggest that connective tissue manifestations may represent an underrecognized aspect of the fragile X premutation and deserve greater clinical and research attention. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2026\/08\/06\/jmg-2025-111346\">https:\/\/jmg.bmj.com\/content\/early\/2026\/08\/06\/jmg-2025-111346<\/a>)<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/hypermobility\/\" rel=\"attachment wp-att-2214\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-2214\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/hypermobility-300x216.jpg\" alt=\"\" width=\"300\" height=\"216\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/hypermobility-300x216.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/hypermobility-768x554.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/hypermobility-640x462.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/hypermobility.jpg 868w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Women who carry the FMR1 premutation are known to be at risk for several fragile X-associated conditions, but connective tissue problems have received relatively little attention. In this pilot study, we found that women with the premutation were much more likely than expected to show features resembling hypermobile Ehlers-Danlos syndrome, including joint hypermobility, chronic pain, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2213","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Enrichment of an Ehlers-Danlos-like Phenotype in Women with the FMR1 Premutation: A Pilot Study (Contributed by Dr Emily L Casanova) - JMG Contact blog<\/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:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Enrichment of an Ehlers-Danlos-like Phenotype in Women with the FMR1 Premutation: A Pilot Study (Contributed by Dr Emily L Casanova) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Women who carry the FMR1 premutation are known to be at risk for several fragile X-associated conditions, but connective tissue problems have received relatively little attention. In this pilot study, we found that women with the premutation were much more likely than expected to show features resembling hypermobile Ehlers-Danlos syndrome, including joint hypermobility, chronic pain, [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2026-08-07T15:14:45+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-08-07T15:14:46+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/hypermobility.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"868\" \/>\n\t<meta property=\"og:image:height\" content=\"626\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Enrichment of an Ehlers-Danlos-like Phenotype in Women with the FMR1 Premutation: A Pilot Study (Contributed by Dr Emily L Casanova)\",\"datePublished\":\"2026-08-07T15:14:45+00:00\",\"dateModified\":\"2026-08-07T15:14:46+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\\\/\"},\"wordCount\":142,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2026\\\/08\\\/hypermobility-300x216.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/08\\\/07\\\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\\\/\",\"name\":\"Enrichment of an Ehlers-Danlos-like Phenotype in Women with the FMR1 Premutation: A Pilot Study (Contributed by Dr Emily L Casanova) - 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In this pilot study, we found that women with the premutation were much more likely than expected to show features resembling hypermobile Ehlers-Danlos syndrome, including joint hypermobility, chronic pain, [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/","og_site_name":"JMG Contact blog","article_published_time":"2026-08-07T15:14:45+00:00","article_modified_time":"2026-08-07T15:14:46+00:00","og_image":[{"width":868,"height":626,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/hypermobility.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Enrichment of an Ehlers-Danlos-like Phenotype in Women with the FMR1 Premutation: A Pilot Study (Contributed by Dr Emily L Casanova)","datePublished":"2026-08-07T15:14:45+00:00","dateModified":"2026-08-07T15:14:46+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/"},"wordCount":142,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2026\/08\/hypermobility-300x216.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/","url":"https:\/\/blogs.bmj.com\/jmg\/2026\/08\/07\/enrichment-of-an-ehlers-danlos-like-phenotype-in-women-with-the-fmr1-premutation-a-pilot-study-contributed-by-dr-emily-l-casanova\/","name":"Enrichment of an Ehlers-Danlos-like Phenotype in Women with the FMR1 Premutation: A Pilot Study (Contributed by Dr Emily L Casanova) - 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