{"id":369687,"date":"2026-08-17T15:44:51","date_gmt":"2026-08-17T10:14:51","guid":{"rendered":"https:\/\/forumias.com\/blog\/?p=369687"},"modified":"2026-08-17T15:44:51","modified_gmt":"2026-08-17T10:14:51","slug":"friedreichs-ataxia-frda","status":"publish","type":"post","link":"https:\/\/forumias.com\/blog\/friedreichs-ataxia-frda\/","title":{"rendered":"Friedreich\u2019s Ataxia (FRDA)"},"content":{"rendered":"<div class=\"content-box-green\">\n<p><strong>News:<\/strong> A new study from the University of Oklahoma Health Sciences Center explained the historical origin and population pattern of Friedreich\u2019s ataxia.<\/p>\n<\/div>\n<h2 class=\"red-h2-box\">About Friedreich\u2019s Ataxia (<strong>FRDA<\/strong>)<\/h2>\n<figure id=\"attachment_369696\" aria-describedby=\"caption-attachment-369696\" style=\"width: 477px\" class=\"wp-caption aligncenter\"><img data-recalc-dims=\"1\" loading=\"lazy\" decoding=\"async\" class=\" wp-image-369696\" src=\"https:\/\/i0.wp.com\/forumias.com\/blog\/wp-content\/uploads\/2026\/08\/Source-The-Vulpe-Lab.jpg?resize=477%2C340&#038;ssl=1\" alt=\"Friedreich\u2019s Ataxia (FRDA)\" width=\"477\" height=\"340\" srcset=\"https:\/\/i0.wp.com\/forumias.com\/blog\/wp-content\/uploads\/2026\/08\/Source-The-Vulpe-Lab.jpg?resize=300%2C214&amp;ssl=1 300w, https:\/\/i0.wp.com\/forumias.com\/blog\/wp-content\/uploads\/2026\/08\/Source-The-Vulpe-Lab.jpg?w=760&amp;ssl=1 760w\" sizes=\"auto, (max-width: 477px) 100vw, 477px\" \/><figcaption id=\"caption-attachment-369696\" class=\"wp-caption-text\">Source &#8211; The Vulpe Lab<\/figcaption><\/figure>\n<ul>\n<li><strong>Friedreich\u2019s ataxia (FRDA)<\/strong>\u00a0is a <strong>genetic disorder<\/strong> that progressively <strong>damages the nerves and heart.<\/strong><\/li>\n<li><strong>Caused by:<\/strong> It is <strong>caused by a mutation in the Frataxin (FXN) gene,<\/strong> which <strong>reduces the production of frataxin<\/strong>, a <strong>protein essential for mitochondria. <\/strong><\/li>\n<li><strong>Genetic Mechanism:<\/strong>\n<ul>\n<li><strong>Normal variants: <\/strong>The <strong>FXN gene normally contains 5\u201311 or 12\u201333 repeats of a particular DNA sequence<\/strong>.\n<ul>\n<li>These are <strong>called short-normal and long-normal variants.<\/strong><\/li>\n<\/ul>\n<\/li>\n<li><strong>Expanded variants: <\/strong>In people with FRDA, the same sequence is <strong>repeated 100\u20131,500 times<\/strong>. These are <strong>called expanded variants.<\/strong><\/li>\n<li><strong>Reduced frataxin: <\/strong>The <strong>large number of repeats changes the chromosome into a closed structure,<\/strong> which <strong>reduces the production of frataxin.<\/strong><\/li>\n<li><strong>Cell damage:<\/strong> <strong>Low frataxin makes mitochondria less effective at producing ATP<\/strong> and <strong>causes toxic by-products to accumulate, making cells dysfunctional.<\/strong><\/li>\n<li><strong>Inheritance: <\/strong>FRDA develops when a person receives two expanded variants, one from each parent.\n<ul>\n<li>A <strong>person with one expanded variant is a carrier <\/strong>and can<strong> pass it to their children.<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<li><strong>Major Symptoms:<\/strong>\n<ul>\n<li><strong>Movement problems:<\/strong> Symptoms usually begin between 5 and 15 years, causing unsteadiness and impaired coordination.<\/li>\n<li><strong>Speech and swallowing:<\/strong> Speech becomes slow and slurred, while swallowing becomes difficult.<\/li>\n<li><strong>Sensory problems:<\/strong> Hearing and vision deteriorate, and sensation is gradually lost.<\/li>\n<li><strong>Other effects:<\/strong> Fatigue occurs and the <strong>spine may curve to one side.<\/strong><\/li>\n<\/ul>\n<\/li>\n<li><strong>Key Features:<\/strong>\n<ul>\n<li><strong>Origin of expanded variants: <\/strong>Researchers found that <strong>95% of the expanded variants came from just two long-normal variants.<\/strong>\n<ul>\n<li>These<strong> first became proto-mutations, then pre-mutations, and later developed into expanded variants.<\/strong><\/li>\n<\/ul>\n<\/li>\n<li><strong>Population pattern:<\/strong> FRDA has been reported mainly among people of <strong>European, North African, West Asian, and South Asian descent.<\/strong><\/li>\n<li><strong>Consanguinity:<\/strong> <strong>Almost all cases diagnosed at Nizam\u2019s Institute come from consanguineous marriages.<\/strong><\/li>\n<li><strong>Genetic testing:<\/strong> Genetic tests can <strong>identify carriers<\/strong> and determine whether expanded <strong>variants were passed to children<\/strong>.<\/li>\n<\/ul>\n<\/li>\n<li><strong>Treatment:<\/strong> There is <strong>no cure for FRDA<span style=\"font-family: var(--global--font-secondary); font-size: var(--global--font-size-base);\">. <\/span><\/strong><\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>News: A new study from the University of Oklahoma Health Sciences Center explained the historical origin and population pattern of Friedreich\u2019s ataxia. About Friedreich\u2019s Ataxia (FRDA) Friedreich\u2019s ataxia (FRDA)\u00a0is a genetic disorder that progressively damages the nerves and heart. Caused by: It is caused by a mutation in the Frataxin (FXN) gene, which reduces the&hellip; <a class=\"more-link\" href=\"https:\/\/forumias.com\/blog\/friedreichs-ataxia-frda\/\">Continue reading <span class=\"screen-reader-text\">Friedreich\u2019s Ataxia (FRDA)<\/span><\/a><\/p>\n","protected":false},"author":10401,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"jetpack_post_was_ever_published":false,"footnotes":""},"categories":[1566,1738,12039],"tags":[11872],"class_list":["post-369687","post","type-post","status-publish","format-standard","hentry","category-daily-factly-articles","category-science-and-technology-daily-factly-articles","category-knolls","tag-9pm-daily-factly","entry"],"jetpack_featured_media_url":"","views":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/forumias.com\/blog\/wp-json\/wp\/v2\/posts\/369687","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/forumias.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/forumias.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/forumias.com\/blog\/wp-json\/wp\/v2\/users\/10401"}],"replies":[{"embeddable":true,"href":"https:\/\/forumias.com\/blog\/wp-json\/wp\/v2\/comments?post=369687"}],"version-history":[{"count":0,"href":"https:\/\/forumias.com\/blog\/wp-json\/wp\/v2\/posts\/369687\/revisions"}],"wp:attachment":[{"href":"https:\/\/forumias.com\/blog\/wp-json\/wp\/v2\/media?parent=369687"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/forumias.com\/blog\/wp-json\/wp\/v2\/categories?post=369687"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/forumias.com\/blog\/wp-json\/wp\/v2\/tags?post=369687"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}