{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:20:16Z","timestamp":1791872416411,"version":"4.3.4"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T00:00:00Z","timestamp":1645833600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Very few studies analyzing the pattern of muscle involvement in magnetic resonance imaging (MRI) of patients with McArdle disease have been reported to date. We aimed to examine the pattern of muscle fat replacement in patients with McArdle disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a retrospective study including all patients with genetically confirmed McArdle disease followed in our center from January 2010 to March 2021. Clinical data were collected from the medical record. Whole\u2010body MRI was performed as part of the diagnostic evaluation. The distribution of muscle fat replacement and its severity were analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Nine patients were included. Median age at onset was 7\u2009y (range, 5\u201358) and median age at the time when MRI was performed was 57.3\u00a0y (range, 37.2\u201372.8). At physical examination, four patients had permanent weakness: in three the weakness was limited to paraspinal muscles, whereas in one the weakness involved the paraspinal and proximal upper limb muscles. Muscle MRI showed abnormalities in six of the seven studied patients. In all of them, fat replacement of paravertebral muscles was found. Other muscles frequently affected were the tongue in three, subscapularis in three, and long head of biceps femoris and semimembranosus in two.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Our findings suggest that paraspinal muscle involvement is common in McArdle disease and support the need to include this disease in the differential diagnosis of the causes of paraspinal muscle weakness. Involvement of the tongue and subscapularis are also frequent in McArdle disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27523","type":"journal-article","created":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T05:36:17Z","timestamp":1645076177000},"page":"568-573","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["High prevalence of paraspinal muscle involvement in adults with <scp>McArdle<\/scp> disease"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4743-7205","authenticated-orcid":false,"given":"Rodrigo","family":"\u00c1lvarez\u2010Velasco","sequence":"first","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Department of Medicine Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"},{"name":"Biomedical Research Institute Sant Pau (IIB Sant Pau)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia Alejandra","family":"Nu\u00f1ez\u2010Peralta","sequence":"additional","affiliation":[{"name":"Department of Radiology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8866-5186","authenticated-orcid":false,"given":"Jorge","family":"Alonso\u2010P\u00e9rez","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Department of Medicine Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"},{"name":"Biomedical Research Institute Sant Pau (IIB Sant Pau)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduard","family":"Gallardo","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Department of Medicine Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"},{"name":"Biomedical Research Institute Sant Pau (IIB Sant Pau)  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Collet\u2010Vidiella","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Reyes\u2010Leiva","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Department of Medicine Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"},{"name":"Biomedical Research Institute Sant Pau (IIB Sant Pau)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elba","family":"Pascual\u2010Go\u00f1i","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Department of Medicine Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"},{"name":"Biomedical Research Institute Sant Pau (IIB Sant Pau)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Mart\u00edn\u2010Aguilar","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Department of Medicine Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"},{"name":"Biomedical Research Institute Sant Pau (IIB Sant Pau)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Caballero\u2010\u00c1vila","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Department of Medicine Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1lvaro","family":"Carbayo\u2010Viejo","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaume","family":"Llauger\u2010Rosell\u00f3","sequence":"additional","affiliation":[{"name":"Department of Radiology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2941-7988","authenticated-orcid":false,"given":"Jordi","family":"D\u00edaz\u2010Manera","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute Sant Pau (IIB Sant Pau)  Barcelona Spain"},{"name":"John Walton Muscular Dystrophy Research Centre, Newcastle University, International Centre for Life  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5727-0165","authenticated-orcid":false,"given":"Montse","family":"Oliv\u00e9","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Biomedical Research Institute Sant Pau (IIB Sant Pau)  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0913"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2016.75"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21351"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.3209"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.07.397"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv332"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324927.28817.9b"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A4596"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spinee.2020.04.007"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000828"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.05.011"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0111-5"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.08.003"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6817-7"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.06.748"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26483"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301593"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1113\/JP270085"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmpt.2015.10.004"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27523","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.27523","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.27523","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T20:08:33Z","timestamp":1692994113000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.27523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,26]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/mus.27523"],"URL":"https:\/\/doi.org\/10.1002\/mus.27523","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,26]]},"assertion":[{"value":"2021-08-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}