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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.nmd.2017.04.013 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
May Measurement Month 2022: results from the global blood pressure screening campaign.
BMJ Glob Health
December 2024
Imperial Clinical Trials Unit, Imperial College London, London, UK.
Introduction: Elevated blood pressure (BP) is the major contributor to mortality and disease burden worldwide. May Measurement Month (MMM) is a global BP screening campaign, which aims to raise awareness of BP measurement and provide evidence to inform and influence related health policy.
Methods: This cross-sectional survey included individuals aged≥18 years recruited through opportunistic sampling at sites in 60 countries during MMM 2022.
DJ-1-mediated repression of the RNA-binding protein FMRP is predicted to impact known Alzheimer's disease-related protein networks.
J Alzheimers Dis
December 2024
Department of Translational Neuroscience, Wake Forest School of Medicine, Medical Center Boulevard, Winston-Salem, NC, USA.
Background: RNA-binding proteins (RBPs) modulate the synaptic proteome and are instrumental in maintaining synaptic homeostasis. Moreover, aberrant expression of an RBP in a disease state would have deleterious downstream effects on synaptic function. While many underlying mechanisms of synaptic dysfunction in Alzheimer's disease (AD) have been proposed, the contribution of RBPs has been relatively unexplored.
View Article and Find Full Text PDFIncidence of diabetes mellitus following hospitalisation for COVID-19 in the United Kingdom: A prospective observational study.
Diabetes Obes Metab
November 2024
Leicester Real World Evidence Unit, Diabetes Research Centre, University of Leicester, Leicester, UK.
Background: People hospitalised for coronavirus disease 2019 (COVID-19) have elevated incidence of diabetes. However, it is unclear whether this is due to shared risk factors, confounding or stress hyperglycaemia in response to acute illness.
Methods: We analysed a multicentre prospective cohort study (PHOSP-COVID) of people ≥18 years discharged from NHS hospitals across the United Kingdom following COVID-19.
Public and participant involvement as a pathway to inclusive dementia research.
Alzheimers Dement
November 2024
Rush Alzheimer's Disease Center, Rush Medical College, Chicago, Illinois, USA.
Article Synopsis
- * The paper emphasizes the importance of addressing disparities like ageism and stigma, especially for minoritized communities, while providing examples of how PPI can be integrated throughout the research process.
- * Recommendations for researchers include fostering collaborative relationships with communities, starting partnerships early, and ensuring that factors like choice, respect, and inclusion are prioritized.
Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands.
Disabil Rehabil
November 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Article Synopsis
- Glycogen Storage Disease type 5 (GSD5), or McArdle disease, is characterized by a lack of glycogen phosphorylase enzyme in muscles, resulting in symptoms such as muscle pain and fatigue during physical activity.
- The study explored the experiences of 13 individuals with GSD5 through in-depth interviews, analyzing their challenges, diagnosis process, and coping strategies.
- Four main themes emerged, highlighting major difficulties in daily life, the importance of diagnosis for understanding their condition, management techniques like the ‘second wind’ phenomenon, and the crucial role of support networks for improving life quality.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!