{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T08:23:54Z","timestamp":1793435034113,"version":"4.5.0"},"reference-count":14,"publisher":"FapUNIFESP (SciELO)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:p>McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity. Signs and symptoms are often ignored in children or put down to \u2018growing pains\u2019 and thus diagnosis is often delayed. Misdiagnosis is not uncommon because several other conditions such as muscular dystrophy and muscle channelopathies can manifest with similar symptoms. A simple exercise test performed in the clinic can however help to identify patients by revealing the second wind phenomenon which is pathognomonic of the condition. Here a patient is reported illustrating the value of using a simple 12 minute walk test.<\/jats:p>","DOI":"10.1590\/0004-282x20140062","type":"journal-article","created":{"date-parts":[[2014,7,17]],"date-time":"2014-07-17T13:31:56Z","timestamp":1405603916000},"page":"538-541","source":"Crossref","is-referenced-by-count":18,"title":["From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease"],"prefix":"10.1590","volume":"72","author":[{"given":"Renata Siciliani","family":"Scalco","sequence":"first","affiliation":[{"name":"University College London Institute of Neurology, United Kingdom; Ministry of Education of Brazil, Brazil; Pontif\u00edcia Universidade Cat\u00f3lica do Rio Grande do Sul, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherryl","family":"Chatfield","sequence":"additional","affiliation":[{"name":"University College London Institute of Neurology, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Godfrey","sequence":"additional","affiliation":[{"name":"University College London Institute of Neurology, United Kingdom; Brunel University, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jatin","family":"Pattni","sequence":"additional","affiliation":[{"name":"University College London Institute of Neurology, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Ellerton","sequence":"additional","affiliation":[{"name":"University College London Institute of Neurology, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Beggs","sequence":"additional","affiliation":[{"name":"University College London Institute of Neurology, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefen","family":"Brady","sequence":"additional","affiliation":[{"name":"University College London Institute of Neurology, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Wakelin","sequence":"additional","affiliation":[{"name":"The Association for Glycogen Storage Disease, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice L","family":"Holton","sequence":"additional","affiliation":[{"name":"University College London Institute of Neurology, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ros","family":"Quinlivan","sequence":"additional","affiliation":[{"name":"University College London Institute of Neurology, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","first-page":"53","article-title":"McArdle disease: molecular genetic update","volume":"26","author":"Andreu AL","year":"2007","journal-title":"Acta Myol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/j.nmd.2011.07.002","article-title":"Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations","volume":"21","author":"Vieitez I","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1001\/archneur.57.7.923","article-title":"Treatment of McArdle disease","volume":"57","author":"Haller RG","year":"2000","journal-title":"Arch Neurol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1136\/jnnp-2011-301593","article-title":"Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry","volume":"83","author":"Lucia A","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1007\/s12017-013-8233-2","article-title":"Clinical and molecular characterization of McArdle's disease in Brazilian patients","volume":"15","author":"Gurgel-Giannetti J","year":"2013","journal-title":"Neuromolecular Med"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1136\/jnnp.2009.195040","article-title":"McArdle disease: a clinical review","volume":"81","author":"Quinlivan R","year":"2010","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1016\/j.jocn.2010.12.033","article-title":"Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease)","volume":"18","author":"Miteff F","year":"2011","journal-title":"J Clin Neurosci"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/ncpneuro0913","article-title":"McArdle disease: what do neurologists need to know?","volume":"4","author":"Lucia A","year":"2008","journal-title":"Nat Clin Pract Neurol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1002\/mus.21351","article-title":"Permanent muscle weakness in McArdle disease","volume":"40","author":"Nadaj-Pakleza AA","year":"2009","journal-title":"Muscle Nerve"},{"issue":"Suppl","key":"ref10","doi-asserted-by":"crossref","first-page":"S294","DOI":"10.1111\/j.0954-6820.1967.tb12635.x","article-title":"The second wind phenomenon in McArdle?s syndrome","volume":"472","author":"Pernow BB","year":"1967","journal-title":"Acta Med Scand"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/0002-9343(61)90075-4","article-title":"A metabolic myopathy due to absence of muscle phosphorylase","volume":"30","author":"Pearson C","year":"1961","journal-title":"Am J Med"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1093\/brain\/109.6.1087","article-title":"The second wind phenomenon in McArdle?s disease","volume":"109","author":"Braakhekke JP","year":"1986","journal-title":"Brain"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1002\/ana.10725","article-title":"A diagnostic cycle test for McArdle's disease","volume":"54","author":"Vissing J","year":"2003","journal-title":"Ann Neurol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"92","DOI":"10.2340\/1650197719702239298","article-title":"Perceived exertion as an indicator of somatic stress","volume":"2","author":"Borg G","year":"1970","journal-title":"Scand J Rehabil Med"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v72n7\/0004-282X-anp-72-07-0538.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T16:18:43Z","timestamp":1717085923000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2014000700538&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["S0004-282X2014000700538"],"URL":"https:\/\/doi.org\/10.1590\/0004-282x20140062","relation":{},"ISSN":["0004-282X"],"issn-type":[{"value":"0004-282X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7]]}}}