eprintid: 1554503 rev_number: 35 eprint_status: archive userid: 608 dir: disk0/01/55/45/03 datestamp: 2017-04-30 01:05:00 lastmod: 2021-10-04 01:58:07 status_changed: 2017-07-07 14:00:24 type: article metadata_visibility: show creators_name: Scalco, RS creators_name: Morrow, JM creators_name: Booth, S creators_name: Chatfield, S creators_name: Godfrey, R creators_name: Quinlivan, R title: Misdiagnosis is an important factor for diagnostic delay in McArdle disease ispublished: pub divisions: UCL divisions: B02 divisions: C07 divisions: D07 divisions: F85 keywords: Exercise intolerance, Glycogen storage disease type V, Growing pains, McArdle disease, Myoglobinuria, Rhabdomyolysis note: This work is licensed under a Creative Commons Attribution-NonCommercial-No derivates 4.0 International license. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit https://creativecommons.org/licenses/by-nc-nd/4.0/ abstract: Diagnosis 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. date: 2017-09 official_url: http://doi.org/10.1016/j.nmd.2017.04.013 oa_status: green full_text_type: pub language: eng primo: open primo_central: open_green article_type_text: Journal Article verified: verified_manual elements_id: 1291426 doi: 10.1016/j.nmd.2017.04.013 pii: S0960-8966(17)30056-1 lyricists_name: Morrow, Jasper lyricists_name: Quinlivan, Rosaline lyricists_name: Siciliani Scalco, Renata lyricists_id: JMMOR15 lyricists_id: RCMQU67 lyricists_id: RSCAL68 full_text_status: public publication: Neuromuscular Disorders volume: 27 number: 9 pagerange: 852-855 event_location: England issn: 1873-2364 citation: Scalco, RS; Morrow, JM; Booth, S; Chatfield, S; Godfrey, R; Quinlivan, R; (2017) Misdiagnosis is an important factor for diagnostic delay in McArdle disease. Neuromuscular Disorders , 27 (9) pp. 852-855. 10.1016/j.nmd.2017.04.013 <https://doi.org/10.1016/j.nmd.2017.04.013>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/1554503/1/1-s2.0-S0960896617300561-main.pdf