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.
Preview |
Text
1-s2.0-S0960896617300561-main.pdf Download (584kB) | Preview |
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.
| Type: | Article |
|---|---|
| Title: | Misdiagnosis is an important factor for diagnostic delay in McArdle disease |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.nmd.2017.04.013 |
| Publisher version: | http://doi.org/10.1016/j.nmd.2017.04.013 |
| Language: | English |
| Additional information: | 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/ |
| Keywords: | Exercise intolerance, Glycogen storage disease type V, Growing pains, McArdle disease, Myoglobinuria, Rhabdomyolysis |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1554503 |
Archive Staff Only
 |
View Item |
