{"id":2433,"date":"2021-04-12T11:46:44","date_gmt":"2021-04-12T09:46:44","guid":{"rendered":"https:\/\/www.aica3.org\/cms\/?p=2433"},"modified":"2022-01-04T17:15:26","modified_gmt":"2022-01-04T16:15:26","slug":"over-three-decades-of-natural-history-of-limb-girdle-muscular-dystrophy-type-r1-2a-and-r2-2b-mathematical-modelling-of-a-multifactorial-study","status":"publish","type":"post","link":"https:\/\/www.aica3.org\/cms\/en\/over-three-decades-of-natural-history-of-limb-girdle-muscular-dystrophy-type-r1-2a-and-r2-2b-mathematical-modelling-of-a-multifactorial-study\/","title":{"rendered":"Over three decades of natural history of limb girdle muscular dystrophy type R1\/2A and R2\/2B: Mathematical modelling of a multifactorial studyOver three decades of natural history of limb girdle muscular dystrophy type R1\/2A and R2\/2B: Mathematical modelling of a multifactorial study"},"content":{"rendered":"<div class=\"page\" title=\"Page 1\">\n<div class=\"layoutArea\">\n<div class=\"column\">\n<p>We aimed to describe the natural history of cingulate muscular dystrophy type 2A and 2B over more than three decades considering muscle strength, motor, cardiac, and respiratory function. 428 visits of nineteen 2A and twenty 2B patients were retrospectively analyzed through a regression model to create evolution curves with disease duration of muscle strength (via Medical Research Council grading), motor function measurement scale (domains D1, D2, and D3), and cardiopulmonary function tests. Clinically relevant muscle and motor function alterations occurred after the first decade of disease, whereas mild respiratory function alterations began after the second, with preserved cardiac function. Although type 2A showed relatively stronger distal lower extremity muscles, whereas type 2B started relatively with stronger upper extremity muscles, the corresponding motor functions were similar, becoming severely impaired after 25 years of disease.<\/p>\n<p>This was the longest retrospective study in types 2A and 2B. It defined disease evolution curves not only from a neuromuscular perspective, but also from a functional, cardiac, and respiratory perspective, to be used to assess how natural progression is modified by therapies.<\/p>\n<p>Because of slow disease progression, time-sensitive endpoints could not be identified.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"page\" title=\"Page 1\">\n<div class=\"layoutArea\">\n<div class=\"column\">\n<div class=\"page\" title=\"Page 2\">\n<div class=\"section\">\n<div class=\"layoutArea\">\n<div class=\"column\">\n<table style=\"width: 399px; height: 133px;\">\n<tbody>\n<tr style=\"height: 100.625px;\">\n<td style=\"width: 75px; height: 100.625px; vertical-align: middle;\"><a href=\"https:\/\/www.aica3.org\/cms\/wp-content\/uploads\/2021\/04\/NMDLoMauro2021.pdf\"><img loading=\"lazy\" decoding=\"async\" class=\"alignright wp-image-1944\" src=\"https:\/\/www.aica3.org\/cms\/wp-content\/uploads\/2016\/12\/Graphicloads-Filetype-Pdf-150x150.png\" alt=\"\" width=\"59\" height=\"59\" srcset=\"https:\/\/www.aica3.org\/cms\/wp-content\/uploads\/2016\/12\/Graphicloads-Filetype-Pdf-150x150.png 150w, https:\/\/www.aica3.org\/cms\/wp-content\/uploads\/2016\/12\/Graphicloads-Filetype-Pdf-49x49.png 49w, https:\/\/www.aica3.org\/cms\/wp-content\/uploads\/2016\/12\/Graphicloads-Filetype-Pdf.png 256w\" sizes=\"(max-width: 59px) 100vw, 59px\" \/><\/a><\/td>\n<td style=\"width: 302.6875px; height: 100.625px; vertical-align: middle;\">\n<h3><a href=\"https:\/\/www.aica3.org\/cms\/wp-content\/uploads\/2021\/04\/NMDLoMauro2021.pdf\"> Download Full Article<\/a><\/h3>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Abbiamo mirato a descrivere la storia naturale della distrofia muscolare dei cingoli di tipo 2A e 2B in pi\u00f9 di tre decenni considerando forza muscolare, funzione motoria, cardiaca e respiratoria. 428 visite di diciannove pazienti 2A e venti 2B sono state analizzate retrospettivamente attraverso un modello di regressione per creare le curve di evoluzione con [&hellip;]<\/p>\n","protected":false},"author":4,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[34,33],"tags":[43,41,42,44,61,63,60,62,64,65],"class_list":["post-2433","post","type-post","status-publish","format-standard","hentry","category-articoli-scientifici","category-ricerca-e-pubblicazioni","tag-calpain-3","tag-clinical-course","tag-dysferlin","tag-lgmd","tag-lgmd2a","tag-lgmd2b","tag-lgmdr1","tag-lgmdr2","tag-mathematical-modelling","tag-natural-history"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - 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AICa3 - ETS - Associazione Italiana Calpaina 3\" \/>\n<meta property=\"og:description\" content=\"Abbiamo mirato a descrivere la storia naturale della distrofia muscolare dei cingoli di tipo 2A e 2B in pi\u00f9 di tre decenni considerando forza muscolare, funzione motoria, cardiaca e respiratoria. 428 visite di diciannove pazienti 2A e venti 2B sono state analizzate retrospettivamente attraverso un modello di regressione per creare le curve di evoluzione con [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.aica3.org\/cms\/en\/over-three-decades-of-natural-history-of-limb-girdle-muscular-dystrophy-type-r1-2a-and-r2-2b-mathematical-modelling-of-a-multifactorial-study\/\" \/>\n<meta property=\"og:site_name\" content=\"AICa3 - ETS - Associazione Italiana Calpaina 3\" \/>\n<meta property=\"article:publisher\" content=\"http:\/\/www.facebook.com\/pages\/AICa3-Associazione-Italiana-Calpaina-3\/119599211561350\" \/>\n<meta property=\"article:published_time\" content=\"2021-04-12T09:46:44+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-01-04T16:15:26+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.aica3.org\/cms\/wp-content\/uploads\/2016\/12\/Graphicloads-Filetype-Pdf-150x150.png\" \/>\n<meta name=\"author\" content=\"admin\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"admin\" \/>\n\t<meta name=\"twitter:label2\" content=\"Estimated reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/over-three-decades-of-natural-history-of-limb-girdle-muscular-dystrophy-type-r1-2a-and-r2-2b-mathematical-modelling-of-a-multifactorial-study\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/over-three-decades-of-natural-history-of-limb-girdle-muscular-dystrophy-type-r1-2a-and-r2-2b-mathematical-modelling-of-a-multifactorial-study\\\/\"},\"author\":{\"name\":\"admin\",\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/#\\\/schema\\\/person\\\/8a5e19b3ab1d1aa2190043f3ddb89aa2\"},\"headline\":\"Oltre tre decenni di storia naturale della distrofia muscolare della cintura degli arti tipo R1\\\/2A e R2\\\/2B: modellazione matematica di uno studio multifattorialeOltre tre decenni di storia naturale della distrofia muscolare della cintura degli arti tipo R1\\\/2A e R2\\\/2B: modellazione matematica di uno studio multifattoriale\",\"datePublished\":\"2021-04-12T09:46:44+00:00\",\"dateModified\":\"2022-01-04T16:15:26+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/over-three-decades-of-natural-history-of-limb-girdle-muscular-dystrophy-type-r1-2a-and-r2-2b-mathematical-modelling-of-a-multifactorial-study\\\/\"},\"wordCount\":269,\"image\":{\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/over-three-decades-of-natural-history-of-limb-girdle-muscular-dystrophy-type-r1-2a-and-r2-2b-mathematical-modelling-of-a-multifactorial-study\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/wp-content\\\/uploads\\\/2016\\\/12\\\/Graphicloads-Filetype-Pdf-150x150.png\",\"keywords\":[\"Calpain-3\",\"clinical course\",\"dysferlin\",\"LGMD\",\"LGMD2A\",\"LGMD2B\",\"LGMDR1\",\"LGMDR2\",\"Mathematical modelling\",\"Natural history\"],\"articleSection\":[\"Articoli scientifici\",\"Ricerca e Pubblicazioni\"],\"inLanguage\":\"en-GB\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/over-three-decades-of-natural-history-of-limb-girdle-muscular-dystrophy-type-r1-2a-and-r2-2b-mathematical-modelling-of-a-multifactorial-study\\\/\",\"url\":\"https:\\\/\\\/www.aica3.org\\\/cms\\\/over-three-decades-of-natural-history-of-limb-girdle-muscular-dystrophy-type-r1-2a-and-r2-2b-mathematical-modelling-of-a-multifactorial-study\\\/\",\"name\":\"Oltre tre decenni di storia naturale della distrofia muscolare della cintura degli arti tipo R1\\\/2A e R2\\\/2B: modellazione matematica di uno studio multifattorialeOltre tre decenni di storia naturale della distrofia muscolare della cintura degli arti tipo R1\\\/2A e R2\\\/2B: modellazione matematica di uno studio multifattoriale - 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