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McArdle Disease vs. Stiff-Person Syndrome: A Case Report Highlighting the Similarities Between Two Rare and Distinct Disorders

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dc.contributor.authorGodbe, Kerilynen
dc.contributor.authorMalaty, Giovannien
dc.contributor.authorWenzel, Alyssaen
dc.contributor.authorNazeer, Sahanaen
dc.contributor.authorGrider, Douglas J.en
dc.contributor.authorKinsey, Adrienneen
dc.contributor.departmentVirginia Tech Carilion School of Medicineen
dc.date.accessioned2021-01-26T18:08:43Zen
dc.date.available2021-01-26T18:08:43Zen
dc.date.issued2020-11-10en
dc.description.abstractMcArdle disease is a rare autosomal recessive disorder of muscle glycogen metabolism that presents with pain and fatigue during exercise. Stiff-Person Syndrome is an autoimmune-related neurologic process characterized by fluctuating muscle rigidity and spasm. Reported is a 41-year-old male who presented to the emergency department due to sudden-onset weakness and chest pain while moving his refrigerator at home. Cardiac workup was non-contributory, but a creatine kinase level > 6,000 warranted a muscle biopsy. The biopsy pathology report was misinterpreted to be diagnostic for McArdle disease given the clinical presentation. After 4 years of treatment without symptomatic improvement, a gradual transition of symptoms from pain alone to pain with stiffness was noted. A positive glutamic acid decarboxylase antibody test resulted in a change of diagnosis to Stiff-Person Syndrome. This is the first known case that highlights the similarities between these two rare and distinct disease processes, highlighting the necessity for thorough history taking, maintenance of a broad differential diagnosis, and knowledge of how best to interpret complex pathology reports.en
dc.description.notesWe would like to acknowledge the Virginia Tech Open Access Subvention Fund for supporting the publication of this article.en
dc.description.sponsorshipVirginia Tech Open Access Subvention Funden
dc.format.mimetypeapplication/pdfen
dc.identifier.doihttps://doi.org/10.3389/fneur.2020.529985en
dc.identifier.issn1664-2295en
dc.identifier.other529985en
dc.identifier.pmid33240189en
dc.identifier.urihttp://hdl.handle.net/10919/102080en
dc.identifier.volume11en
dc.language.isoenen
dc.rightsCreative Commons Attribution 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.subjectMcArdle diseaseen
dc.subjectStiff Person Syndromeen
dc.subjectcase reporten
dc.subjectautoimmune diseaseen
dc.subjectdiagnostic workupen
dc.titleMcArdle Disease vs. Stiff-Person Syndrome: A Case Report Highlighting the Similarities Between Two Rare and Distinct Disordersen
dc.title.serialFrontiers in Neurologyen
dc.typeArticle - Refereeden
dc.type.dcmitypeTexten
dc.type.dcmitypeStillImageen

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