{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,4]],"date-time":"2025-05-04T20:40:02Z","timestamp":1746391202544,"version":"3.40.4"},"reference-count":6,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Emer Care"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Repeated presentations of a rare symptom in a patient should make a physician stop and evaluate for rare conditions. This is a report of a teenager with multiple episodes of rhabdomyolysis and weakness. He was eventually diagnosed as having McArdle muscular dystrophy, or glycogen storage disease type V. His rhabdomyolysis has been severe, with a creatinine kinase level of &gt;320,000 U\/L, myoglobinuria, transaminitis, and elevated bilirubin. He has a low threshold for triggering rhabdomyolysis, such as doing an hour of aerobic exercise 2 days in a row. McArdle disease is a glycogen storage disorder in which the skeletal muscle cannot convert glycogen to glucose. Unlike other glycogen storage disorders, McArdle muscular dystrophy only affects the skeletal muscle, sparing the brain and visceral organs, leading to a vague phenotype. These patients have exercise intolerance, muscle cramps, and rhabdomyolysis. Many patients report loading with simple carbohydrates before exercise, as they have learned that this can increase their stamina. The vague symptoms can lead to decades of delay in diagnosis and significant mismanagement. Rhabdomyolysis is the most dangerous sign of McArdle disease, and it can lead to acute kidney injury, resulting in renal failure requiring dialysis in the severest cases.<\/jats:p>\n          <jats:p>Rhabdomyolysis has numerous causes, but when it is recurrent, especially with seemingly insignificant triggers, one needs to develop a broader differential and pursue advanced testing. This testing can include specific exercise tests, genetic sequencing, and muscle biopsy. This case report will guide the clinician through the process of evaluating recurrent rhabdomyolysis, working through the differential diagnosis and testing options.\n                              <jats:sup>1<\/jats:sup>\n                           \n                        <\/jats:p>","DOI":"10.1097\/pec.0000000000002079","type":"journal-article","created":{"date-parts":[[2020,3,20]],"date-time":"2020-03-20T10:26:43Z","timestamp":1584700003000},"page":"e1759-e1760","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Repeatedly in Rhabdomyolysis"],"prefix":"10.1097","volume":"37","author":[{"given":"Catherine","family":"Gooch","sequence":"first","affiliation":[{"name":"Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah Joy","family":"Dean","sequence":"additional","affiliation":[{"name":"Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurie","family":"Marzullo","sequence":"additional","affiliation":[{"name":"Pediatric Emergency Medicine, University of Alabama at Birmingham, Birmingham, AL."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2020,3,20]]},"reference":[{"key":"bib2-20250504","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/j.nmd.2017.04.013","article-title":"Misdiagnosis is an important factor for diagnostic delay in McArdle disease","volume":"27","year":"2017","journal-title":"Neuromuscul Disord"},{"issue":"suppl 8","key":"bib3-20250504","first-page":"819","article-title":"Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update","volume":"18","year":"2017","journal-title":"BMC Genomics"},{"key":"bib4-20250504","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1152\/physiolgenomics.00076.2015","article-title":"Genes and exercise intolerance: insights from McArdle disease","volume":"48","year":"2016","journal-title":"Physiol Genomics"},{"key":"bib5-20250504","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1590\/0004-282X20140062","article-title":"From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease","volume":"72","year":"2014","journal-title":"Arq Neuropsiquiatr"},{"key":"bib6-20250504","first-page":"120","article-title":"A multi-parametric protocol to study exercise intolerance in McArdle's disease","volume":"34","year":"2015","journal-title":"Acta Myol"},{"key":"bib8-20250504","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1212\/01.wnl.0000318283.42961.e9","article-title":"Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy","volume":"71","year":"2008","journal-title":"Neurology"}],"container-title":["Pediatric Emergency Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/PEC.0000000000002079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,4]],"date-time":"2025-05-04T20:06:45Z","timestamp":1746389205000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/PEC.0000000000002079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,20]]},"references-count":6,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.1097\/pec.0000000000002079","relation":{},"ISSN":["1535-1815","0749-5161"],"issn-type":[{"type":"electronic","value":"1535-1815"},{"type":"print","value":"0749-5161"}],"subject":[],"published":{"date-parts":[[2020,3,20]]}}}