Please use this identifier to cite or link to this item: http://bura.brunel.ac.uk/handle/2438/14954
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dc.contributor.authorScalco, RS-
dc.contributor.authorMorrow, JM-
dc.contributor.authorBooth, S-
dc.contributor.authorChatfield, S-
dc.contributor.authorGodfrey, R-
dc.contributor.authorQuinlivan, R-
dc.date.accessioned2017-07-25T12:50:25Z-
dc.date.available2017-01-17-
dc.date.available2017-07-25T12:50:25Z-
dc.date.issued2017-
dc.identifier.citationNeuromuscular Disorders, (2017)en_US
dc.identifier.issn0960-8966-
dc.identifier.urihttp://bura.brunel.ac.uk/handle/2438/14954-
dc.description.abstractDiagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically confirmed patients. The results demonstrated a high frequency of misdiagnosis (90%, n = 45/50) most commonly during childhood years (67%; n = 30/45) compared with teenage years and adulthood (teenage: n = 7/45; adult n = 5/45; not known n = 3/45). The correct diagnosis of McArdle disease was rarely made before adulthood (median age of diagnosis 33 years). Thirty-one patients (62%) reported having received more than one misdiagnosis; the most common were “growing pains” (40%, n = 20) and “laziness/being unfit” (46%, n = 23). A psychiatric/psychological misdiagnosis was significantly more common in females than males (females 6/20; males 1/30; p < 0.01). Of the 45 patients who were misdiagnosed, 21 (47%) received incorrect management. This study shows that most patients with McArdle disease received an incorrect explanation of their symptoms providing evidence that misdiagnosis plays an important part in delaying implementation of appropriate medical advice and management to this group of patients.en_US
dc.description.sponsorshipThe authors would like to thank Mr Andrew Wakelin for his great and inspiring work. The authors would also like to thank AGSD-UK, CAPES Foundation, Muscular Dystrophy Campaign and the Euromac Registry for their support.en_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.subjectGlycogen storage disease type Ven_US
dc.subjectMcArdle diseaseen_US
dc.subjectGrowing painsen_US
dc.subjectExercise intoleranceen_US
dc.subjectRhabdomyolysisen_US
dc.subjectMyoglobinuriaen_US
dc.titleMisdiagnosis is an important factor for diagnostic delay in McArdle diseaseen_US
dc.typeArticleen_US
dc.identifier.doihttp://dx.doi.org/10.1016/j.nmd.2017.04.013-
dc.relation.isPartOfNeuromuscular Disorders-
pubs.publication-statusAccepted-
Appears in Collections:Dept of Life Sciences Research Papers

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