{"id":3132,"date":"2020-07-16T18:02:55","date_gmt":"2020-07-16T18:02:55","guid":{"rendered":"http:\/\/genetikascentrs.lv\/pakalpojumi\/genetic-analyses\/spinala-muskulu-atrofija-sma\/"},"modified":"2024-08-23T12:49:33","modified_gmt":"2024-08-23T12:49:33","slug":"spinal-muscular-atrophy-sma","status":"publish","type":"page","link":"https:\/\/genetikascentrs.lv\/en\/services\/genetic-analyses\/spinal-muscular-atrophy-sma\/","title":{"rendered":"Spinal muscular atrophy (SMA) carrier testing with MLPA"},"content":{"rendered":"[vc_row rsclass=&#8221;clean&#8221; el_class=&#8221;row&#8221;][vc_column width=&#8221;1\/4&#8243; rsclass=&#8221;clean&#8221; el_class=&#8221;col-md&#8221;][vc_wp_custommenu nav_menu=&#8221;68&#8243; el_class=&#8221;services-nav flex-column flex-nowrap&#8221;][vc_row_inner rsclass=&#8221;clean&#8221; el_class=&#8221;row d-flex flex-column flex-sm-row flex-md-column mt-3&#8243;][vc_column_inner el_class=&#8221;col-auto col-sm col-md-auto&#8221; rsclass=&#8221;clean&#8221; 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rsclass=&#8221;clean&#8221; el_class=&#8221;col-md-8 col-lg-9 mt-4 mt-md-0&#8243;][vc_row_inner rsclass=&#8221;clean&#8221; el_class=&#8221;pt-2 pt-md-4&#8243;][vc_column_inner rsclass=&#8221;clean&#8221;][vc_column_text rsclass=&#8221;clean&#8221;]<strong><img loading=\"lazy\" decoding=\"async\" class=\"alignright wp-image-2888\" src=\"http:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/08\/MLPA_karte_2.jpg\" alt=\"\" width=\"500\" height=\"328\" srcset=\"https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/08\/MLPA_karte_2.jpg 1002w, https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/08\/MLPA_karte_2-300x197.jpg 300w, https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/08\/MLPA_karte_2-768x504.jpg 768w\" sizes=\"auto, (max-width: 500px) 100vw, 500px\" \/><\/strong><\/p>\n<p><strong>Spinal muscular atrophy (SMA)<\/strong> is a neuromuscular disorder characterised by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMA is usually divided into four clinical groups based on age of onset and maximum function obtained1. It is the second most common lethal autosomal recessive disorder in Caucasians, after cystic fibrosis, with the estimated incidence of 1:6,000-1:10,000 in newborns, and incidence in Latvia is estimated at one out of 9091 newborns2.<br \/>\nIn pathogenesis of SMA are involved two genes, SMN1 and SMN2, from which homozygote deletion of the SMN1 gene is associated with disease development, while changes in the SMN2 gene may affect the course of the disease. In 95-98% of SMA patients\u2019 homozygous deletion of exon 7 in SMN1 gene is found, rarely small allelic variants or deletions of exons 1 \u2013 6 are found in SMN1 gene. Changes in this gene are found on average in 1 out of 50 people in the population, depending on ethnicity. The majority of heterozygous carriers of the deletion of SMN1 gene can be determined using methods that determine exon 7 deletion. One of the most precise methods for heterozygote testing is <strong>MLPA (Multiplex Ligation Probe amplification)<\/strong>, which can detect large SMN1 gene deletions responsible for the development of the syndrome.<\/p>\n<h6>Genetic centre iVF Riga offers SMN1 and SMN2 deletion carrier testing with MLPA.<\/h6>\n<p><em>1OMIM # 253300, # 253550, # 253400, # 271150.<\/em><br \/>\n<em>2\u0160etlere S., Strautmanis J., Rozent\u0101ls G., Ozoli\u0146a G., Ber\u0137e L., Mi\u010dule I. \u201cClinical epidemiological characteristics of spinal muscle atrophy in Latvia\u201d RSU Science conference 2018, Riga, Latvia.<\/em>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][vc_column_text]Only after prior agreement and appointment: <strong>+371 67111117 or\u00a0<a href=\"mailto:genetikascentrs@ivfriga.eu\" target=\"_blank\" rel=\"noopener noreferrer\">genetikascentrs@ivfriga.eu<\/a><\/strong>[\/vc_column_text][\/vc_column][\/vc_row][vc_row][vc_column][\/vc_column][\/vc_row][vc_row][vc_column][\/vc_column][\/vc_row][vc_row][vc_column][\/vc_column][\/vc_row]\n","protected":false},"excerpt":{"rendered":"<p>[vc_row rsclass=&#8221;clean&#8221; el_class=&#8221;row&#8221;][vc_column width=&#8221;1\/4&#8243; rsclass=&#8221;clean&#8221; el_class=&#8221;col-md&#8221;][vc_wp_custommenu nav_menu=&#8221;68&#8243; el_class=&#8221;services-nav flex-column flex-nowrap&#8221;][vc_row_inner rsclass=&#8221;clean&#8221; el_class=&#8221;row d-flex flex-column flex-sm-row flex-md-column mt-3&#8243;][vc_column_inner el_class=&#8221;col-auto col-sm col-md-auto&#8221; rsclass=&#8221;clean&#8221; rsinner=&#8221;contact-box contact-box-1&#8243;][vc_custom_heading text=&#8221;Working Time&#8221; font_container=&#8221;tag:h5|text_align:left&#8221; use_theme_fonts=&#8221;yes&#8221; rs_decor_place=&#8221;2&#8243; el_class=&#8221;contact-box-title&#8221;][\/vc_custom_heading][vc_column_text rsclass=&#8221;clean&#8221;] Mon-Thu 08:00 &#8211; 20:00Friday 07:00 &#8211; 22:00Saturday 08:00 &#8211; 18:00 [\/vc_column_text][\/vc_column_inner][vc_column_inner el_class=&#8221;col-auto col-sm col-md-auto&#8221; rsclass=&#8221;clean&#8221; rsinner=&#8221;contact-box contact-box-2&#8243;][vc_custom_heading text=&#8221;Contact Info&#8221; font_container=&#8221;tag:h5|text_align:left&#8221; use_theme_fonts=&#8221;yes&#8221; rs_decor_place=&#8221;2&#8243; el_class=&#8221;contact-box-title&#8221;][\/vc_custom_heading][vc_column_text rsclass=&#8221;clean&#8221;] Phone: <\/p>\n<div class=\"btn-more-wrapper\"><a href=\"https:\/\/genetikascentrs.lv\/en\/services\/genetic-analyses\/spinal-muscular-atrophy-sma\/\" class=\"btn btn-sm btn-hover-fill\"><svg class=\"icon icon-right-arrow\" version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"32\" height=\"32\" viewBox=\"0 0 32 32\"><title>right-arrow<\/title><path d=\"M21.548 5.088c-0.436-0.451-1.162-0.451-1.613 0-0.436 0.436-0.436 1.162 0 1.596l8.177 8.177h-26.984c-0.629 0.001-1.129 0.501-1.129 1.13s0.5 1.145 1.129 1.145h26.984l-8.177 8.162c-0.436 0.451-0.436 1.178 0 1.613 0.451 0.451 1.178 0.451 1.613 0l10.113-10.113c0.451-0.436 0.451-1.162 0-1.596l-10.113-10.114z\"><\/path><\/svg>Read More<span class=\"screen-reader-text\"> &#8220;Spinal muscular atrophy (SMA) carrier testing with MLPA&#8221;<\/span><svg class=\"icon icon-right-arrow\" version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"32\" height=\"32\" viewBox=\"0 0 32 32\"><title>right-arrow<\/title><path d=\"M21.548 5.088c-0.436-0.451-1.162-0.451-1.613 0-0.436 0.436-0.436 1.162 0 1.596l8.177 8.177h-26.984c-0.629 0.001-1.129 0.501-1.129 1.13s0.5 1.145 1.129 1.145h26.984l-8.177 8.162c-0.436 0.451-0.436 1.178 0 1.613 0.451 0.451 1.178 0.451 1.613 0l10.113-10.113c0.451-0.436 0.451-1.162 0-1.596l-10.113-10.114z\"><\/path><\/svg><\/a><\/div>\n","protected":false},"author":1,"featured_media":0,"parent":2967,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-3132","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.5 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Spinal muscular atrophy (SMA) - iVF Riga \u0123en\u0113tikas centrs<\/title>\n<meta name=\"description\" content=\"Spinal muscular atrophy (SMA) . iVF Riga Genetic Center. 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