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
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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