{"id":10739,"date":"2023-01-05T18:30:55","date_gmt":"2023-01-05T18:30:55","guid":{"rendered":"https:\/\/panel.ptcbio.com\/it-p2025tc\/?page_id=10739"},"modified":"2023-01-05T18:30:55","modified_gmt":"2023-01-05T18:30:55","slug":"spinal-muscular-atrophy","status":"publish","type":"page","link":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/spinal-muscular-atrophy\/","title":{"rendered":"Spinal muscular atrophy"},"content":{"rendered":"<div class=\"hero-header__outer-container\">\n\n\t<div class=\"hero hero--styled color-theme--denim-blue hero--no-image hero--normal-spacing\">\n\t\t\t\t\t\t<div class=\"hero__bg\">\n\t\t\t<div id=\"particles-js\" class=\"hero__constellation hero__constellation--center\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t<div class=\"hero__inner hero__inner--center\">\n\t\t\t<div class=\"hero__content hero__content--center hero__content--no-image\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"u-mt-1 u-my-2\"><h1 class=\"hero__title hero__title--standard\" data-ptc-fitty=\"\">Spinal Muscular Atrophy (SMA)<\/h1><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"hero__subtitle\">Hereditary disease that progressively destroys motor neurons<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t<div class=\"hero__breadcrumbs\"><nav\n\tclass=\"breadcrumbs breadcrumbs--deep\"\n\taria-label=\"Breadcrumb\"\n>\n\t<ol class=\"breadcrumbs__list\" itemscope itemtype=\"https:\/\/schema.org\/BreadcrumbList\">\n\t\t\t\t\t\t\t\t\t<li class=\"breadcrumbs__crumb breadcrumbs__crumb--light\" itemscope itemprop=\"itemListElement\" itemtype=\"https:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t\t\t\t<a class=\"breadcrumbs__link breadcrumbs__link--home breadcrumbs__link--light\" itemprop=\"item\" href=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/\">\n\t\t\t\t\t\t\t<span class=\"sr-only\" itemprop=\"name\">Homepage<\/span>\n\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"1\" \/>\n\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumbs__crumb breadcrumbs__crumb--light\" itemscope itemprop=\"itemListElement\" itemtype=\"https:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<a\n\t\t\t\t\t\t\t\tclass=\"breadcrumbs__link\" itemprop=\"item\"\n\t\t\t\t\t\t\t\thref=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/\"\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span itemprop=\"name\">Therapeutic Areas<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"2\" \/>\n\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumbs__crumb breadcrumbs__crumb--light\" itemscope itemprop=\"itemListElement\" itemtype=\"https:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span\n\t\t\t\t\t\t\t\tclass=\"breadcrumbs__current\" itemprop=\"item\"\n\t\t\t\t\t\t\t\taria-current=\"page\"\t\t\t\t\t\t\t>\n\t\t\t\t\t\t\t\t<span itemprop=\"name\">Spinal muscular atrophy<\/span>\n\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"3\" \/>\n\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ol>\n<\/nav>\n<\/div>\n\t<\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-what-is-spinal-muscular-atrophy\">What is Spinal Muscular Atrophy?\u00a0<\/h4>\n\n\n\n<p class=\"core-block core-paragraph\">Spinal muscular atrophy (SMA) is a group of rare, progressive, genetic neuromuscular diseases, which can be fatal. The most common form is caused by the mutation or deletion of the \u2018survival of motor neuron\u2019 (SMN1) gene, which leads to a deficiency of SMN protein.<sup>1<\/sup> This protein is found throughout the body and is essential to the function of nerves that control muscles and movement. Without it, nerve cells cannot function properly, leading to progressive muscle weakness and muscle wasting; and physical strength and the ability to walk, swallow or breathe can be significantly diminished or lost over time.<sup>1<\/sup><\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Spinal muscular atrophy is the leading genetic cause of infant mortality. However, there is a wide spectrum of how severely the different forms of spinal muscular atrophy affect children and adults.<sup>1<\/sup><\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-how-common-is-spinal-muscular-atrophy\">How common is Spinal Muscular Atrophy?\u00a0\u00a0<\/h4>\n\n\n\n<p class=\"core-block core-paragraph\">Approximately 1 in every 11,000 babies globally have spinal muscular atrophy.<sup>2,3,4<\/sup> Males and females are equally likely to have this disease.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-how-is-ptc-working-to-treat-spinal-muscular-atrophy\">How is PTC Working to Treat Spinal Muscular Atrophy?\u00a0<\/h4>\n\n\n\n<p class=\"core-block core-paragraph\">The first at-home, oral treatment for spinal muscular atrophy in adults and children two months and older was based on PTC\u2019s innovative splicing platform technology. The SMA program is a joint collaboration between PTC, the SMA Foundation, and Roche. Evrysdi\u2122 (risdiplam) has been approved in nearly 100 countries, including the US, the European Union and Japan. Evrysdi targets and encourages the SMN2 \u2018back-up\u2019 gene to produce a greater amount of functional SMN protein.<\/p>\n\n\n\n<div  class=\"references-block color-theme--purple-steel\">\n\t<div class=\"references-block__wrapper\">\n\n\t\t\t\t\t<div class=\"references-block__title heading--6\">\n\t\t\t\tReferences\t\t\t<\/div>\n\t\t\n\t\t<div class=\"references-block__content wysiwyg wysiwyg--pure\">\n\t\t\t<p>[1] National Institute of Neurological Disorders and Stroke. <a href=\"https:\/\/www.ninds.nih.gov\/Disorders\/Patient-Caregiver-Education\/Fact-Sheets\/Spinal-Muscular-Atrophy-Fact-Sheet\">https:\/\/www.ninds.nih.gov\/Disorders\/Patient-Caregiver-Education\/Fact-Sheets\/Spinal-Muscular-Atrophy-Fact-Sheet<\/a>. Accessed December 2021.<\/p>\n<p>[2] Verhaart IEC et al. (2017) Prevalence, incidence and carrier frequency of 5q\u2013linked spinal muscular atrophy \u2013 a literature review. Orphanet J Rare Dis 12: 124.<\/p>\n<p>[3] Verhaart IEC, et al. (2017) A multi-source approach to determine SMA incidence and research ready population. J Neurol 264: 1465-1473<\/p>\n<p>[4] Sugarman EA, et al. Eur J Hum Genet. 2012;20(1):27-32.\u200b<\/p>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div  class=\"text-block text-block--standard color-theme--sky-blue-partial\">\n\t\t<div class=\"text-block__wrapper\" >\n\n\t\t\n\t\t\t\t\t<h3 class=\"text-block__heading\">\n\t\t\t\t<span class=\"heading--3\"  data-ptc-fitty=\"\">Do you have questions?<\/span>\n\t\t\t<\/h3>\n\t\t\n\t\t<div class=\"text-block__content wysiwyg--decoration wysiwyg--color\">\n\t\t\t<p>If you wish to speak to someone about Evrysdi, please contact:\u00a0 <a href=\"https:\/\/medinfo.roche.com\/\" target=\"_blank\" rel=\"noreferrer noopener\" data-rich-text-format-boundary=\"true\">medinfo.roche.com<\/a><\/p>\n\t\t<\/div>\n\n\t\t\n\t\t\n\t<\/div>\n<\/div>\n\n","protected":false},"excerpt":{"rendered":"<p>What is Spinal Muscular Atrophy?\u00a0 Spinal muscular atrophy (SMA) is a group of rare, progressive, genetic neuromuscular diseases, which can be fatal. The most common form is caused by the mutation or deletion of the \u2018survival of motor neuron\u2019 (SMN1) gene, which leads to a deficiency of SMN protein.1 This protein is found throughout the&hellip;<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":9951,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-10739","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.5 (Yoast SEO v27.5) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Spinal muscular atrophy - PTC Therapeutics (Italy)<\/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:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/spinal-muscular-atrophy\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Spinal muscular atrophy\" \/>\n<meta property=\"og:description\" content=\"What is Spinal Muscular Atrophy?\u00a0 Spinal muscular atrophy (SMA) is a group of rare, progressive, genetic neuromuscular diseases, which can be fatal. 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