{"id":46,"date":"2026-05-07T10:46:56","date_gmt":"2026-05-07T10:46:56","guid":{"rendered":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/?page_id=46"},"modified":"2026-09-15T14:39:43","modified_gmt":"2026-09-15T14:39:43","slug":"need-for-early-diagnosis","status":"publish","type":"page","link":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/need-for-early-diagnosis\/","title":{"rendered":"Need for Early Diagnosis"},"content":{"rendered":"<div id=\"acf-block-6a019df5cafb5\" class=\"simple-hero\">\n        <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"hero-content\">\n\t\t\t\t\t\t\t\t    <span class=\"section-title\">Overview<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t    <h1>Need for Early Diagnosis\n<\/h1>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<figure id=\"acf-block-6a019df5cb1c9\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/NCL-disorders-hero.jpg?v=0.4\" alt=\"\" \/>            <\/div>\n    <\/figure>\n\n<div id=\"acf-block-6a019df5cb376\" class=\"block wrapped-content block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a019df5cb4b4\" class=\"block-wysiwyg\">\n            \n\n<h2 style=\"font-weight: bold\">Signs and symptoms of CLN2 disease go beyond epilepsy<\/h2>\n\n<p>Children are often diagnosed with epilepsy without a further workup for CLN2<\/p>\n<ul class=\"no-left\">\n<li>Average age at diagnosis is 5 years, which is well into the neurodegenerative decline of CLN2 disease<\/li>\n<li>Diagnosis of CLN2 disease can be delayed because<sup>1,2<\/sup>:\n<ul>\n<li>Initial presenting symptoms are nonspecific<\/li>\n<li>CLN2 disease progression can be mistaken for side effects from anti-epileptic drugs.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a01a49961a54\" class=\"block boxed-content\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t                    <h2>Diagnosis of CLN2 disease is delayed an average of 2 years from first observed seizure at age 3.\n<\/h2>\n                \t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb376\" class=\"block wrapped-content block-tight-bottom\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-6a019df5cb4b4\" class=\"block-wysiwyg\">\n            \n\n<h4 style=\"color: #41b6e6\">CLN2 disease is often initially misdiagnosed, delaying accurate diagnosis<\/h4>\n<p class=\"boldfont\"><strong>Early in the progression of CLN2 disease<sup>3,4<\/sup>:<\/strong><\/p>\n<ul class=\"no-left\">\n<li>Since seizures and myoclonus are the most prominent symptom, syndromes where myoclonus is common (eg, focal epilepsy; myoclonic epilepsy syndromes\/myoclonic astatic epilepsies, like Doose syndrome, Dravet syndrome, Lennox-Gastaut syndrome; or other epilepsy syndromes) are often suspected<\/li>\n<\/ul>\n<p class=\"boldfont\"><strong>Later in the progression of CLN2 disease<sup>3<\/sup>:<\/strong><\/p>\n<ul class=\"no-left\">\n<li>As the disease progresses and psychomotor regression and functional loss become more prominent, other progressive pediatric brain disorders may be suspected (eg, inflammation\/infections, tumors, mitochondrial disorders, and other lysosomal storage diseases, including other NCL types)<\/li>\n<\/ul>\n<p><a href=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/identification-diagnosis\/differential-diagnosis\/\">The differential diagnosis of CLN2 disease varies depending on the stage of disease progression.<\/a><\/p>\n\n\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb4f2\" class=\"block wrapped-content block-tight-top\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<figure id=\"acf-block-6a019df5cb530\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/08\/need-early-2.jpg?v=0.4\" alt=\"\" \/>            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a01b2830a420\" class=\"block boxed-content boxed-content-no-bg\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"box\">\n\t\t\t\t\t\t\t\t\n<div id=\"acf-block-6a01b2830b8be\" class=\"block row-block block-zero-top\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n            <div class=\"row-title\">\n                            <\/div>\n            <div class=\"row-wrapper\">\n                                <div class=\"row-column col-1\">\n                    \n                    \n                                        <div class=\"column-button\">\n                        <a href=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/identification-diagnosis\/differential-diagnosis\/\" class=\"button button-ghost button-arrow\" target=\"\">Learn More<\/a>\n                    <\/div>\n                                    <\/div>\n                            <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-6a019df5cb4f2\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<figure id=\"acf-block-6a019df5cb530\">\n    <div class=\"image image-align-left\">\n                    <img decoding=\"async\" class=\"\" src=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-content\/uploads\/sites\/3\/2026\/05\/hr-1900x2.png\" alt=\"\" \/>            <\/div>\n    <\/figure>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-6a01b2830be90\" class=\"block references\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t    \t\t\t    <h4>References:\n<\/h4>\n\t\t\t\t\t\t                <ol>\n                                                                                                                        <li><span>Fietz M, AlSayed M, Burke D, et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. <em>Mol Genet Metab.<\/em> 2016 Sep;119(1-2):160-7. doi: 10.1016\/j.ymgme.2016.07.011.\n<\/span><\/li>\n                                                                                                                                                <li><span>Williams RE, Adams HR, Blohm M, et al. Management Strategies for CLN2 Disease. <em>Pediatr Neurol.<\/em> 2017 Apr;69:102-112. doi: 10.1016\/j.pediatrneurol.2017.01.034.\n<\/span><\/li>\n                                                                                                                                                <li><span>Chang M, Cooper JD, Davidson BL, et al. CLN2. In: Mole S, Williams R, and Goebel H, eds. <em>The neuronal ceroid lipofuscinoses (Batten Disease)<\/em>. 2nd ed. Oxford, United Kingdom: Oxford University Press; 2011:80-109.\n<\/span><\/li>\n                                                                                                                                                <li><span>P\u00e9rez-Poyato MS, Marfa MP, Abizanda IF, et al. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. <em>J Child Neurol.<\/em> 2013;28:470-478.\n<\/span><\/li>\n                                                                                                                                                <li><span>Mole SE, Williams RE, and Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. <em>Neurogenetics.<\/em> 2005;6:107-126.\n<\/span><\/li>\n                                                            <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":0,"parent":36,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-46","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CLN2 Connection | Need for Early Diagnosis | HCP BioMarin<\/title>\n<meta name=\"description\" content=\"Learn why early diagnosis of CLN2 disease is important, including recognising early signs and symptoms and confirming diagnosis through appropriate testing.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/need-for-early-diagnosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CLN2 Connection | Need for Early Diagnosis | HCP BioMarin\" \/>\n<meta property=\"og:description\" content=\"Learn why early diagnosis of CLN2 disease is important, including recognising early signs and symptoms and confirming diagnosis through appropriate testing.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/need-for-early-diagnosis\/\" \/>\n<meta property=\"og:site_name\" content=\"BMRN CLN2 DSE HCP EN-US\" \/>\n<meta property=\"article:modified_time\" content=\"2026-09-15T14:39:43+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/overview\\\/need-for-early-diagnosis\\\/\",\"url\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/overview\\\/need-for-early-diagnosis\\\/\",\"name\":\"CLN2 Connection | Need for Early Diagnosis | HCP BioMarin\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/#website\"},\"datePublished\":\"2026-05-07T10:46:56+00:00\",\"dateModified\":\"2026-09-15T14:39:43+00:00\",\"description\":\"Learn why early diagnosis of CLN2 disease is important, including recognising early signs and symptoms and confirming diagnosis through appropriate testing.\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/overview\\\/need-for-early-diagnosis\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/overview\\\/need-for-early-diagnosis\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/overview\\\/need-for-early-diagnosis\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Overview\",\"item\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/overview\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Need for Early Diagnosis\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/#website\",\"url\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/\",\"name\":\"BMRN CLN2 DSE HCP EN-US\",\"description\":\"\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/hcp.biomarin.com\\\/en-us\\\/cln2\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"CLN2 Connection | Need for Early Diagnosis | HCP BioMarin","description":"Learn why early diagnosis of CLN2 disease is important, including recognising early signs and symptoms and confirming diagnosis through appropriate testing.","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/need-for-early-diagnosis\/","og_locale":"en_US","og_type":"article","og_title":"CLN2 Connection | Need for Early Diagnosis | HCP BioMarin","og_description":"Learn why early diagnosis of CLN2 disease is important, including recognising early signs and symptoms and confirming diagnosis through appropriate testing.","og_url":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/need-for-early-diagnosis\/","og_site_name":"BMRN CLN2 DSE HCP EN-US","article_modified_time":"2026-09-15T14:39:43+00:00","twitter_card":"summary_large_image","schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/need-for-early-diagnosis\/","url":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/need-for-early-diagnosis\/","name":"CLN2 Connection | Need for Early Diagnosis | HCP BioMarin","isPartOf":{"@id":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/#website"},"datePublished":"2026-05-07T10:46:56+00:00","dateModified":"2026-09-15T14:39:43+00:00","description":"Learn why early diagnosis of CLN2 disease is important, including recognising early signs and symptoms and confirming diagnosis through appropriate testing.","breadcrumb":{"@id":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/need-for-early-diagnosis\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/need-for-early-diagnosis\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/need-for-early-diagnosis\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/"},{"@type":"ListItem","position":2,"name":"Overview","item":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/overview\/"},{"@type":"ListItem","position":3,"name":"Need for Early Diagnosis"}]},{"@type":"WebSite","@id":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/#website","url":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/","name":"BMRN CLN2 DSE HCP EN-US","description":"","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"}]}},"_links":{"self":[{"href":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-json\/wp\/v2\/pages\/46","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-json\/wp\/v2\/comments?post=46"}],"version-history":[{"count":16,"href":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-json\/wp\/v2\/pages\/46\/revisions"}],"predecessor-version":[{"id":697,"href":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-json\/wp\/v2\/pages\/46\/revisions\/697"}],"up":[{"embeddable":true,"href":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-json\/wp\/v2\/pages\/36"}],"wp:attachment":[{"href":"https:\/\/hcp.biomarin.com\/en-us\/cln2\/wp-json\/wp\/v2\/media?parent=46"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}