Systemic Review of Clinical Presentation of Duchenne Muscular Dystrophy Patients: A Focused Case Series from King Saud Medical City, Saudi Arabia
Year: 2025
Type: article
Study design: Observational Study
Abstract: Duchenne Muscular Dystrophy (DMD) is a severe X-linked disorder caused by mutations in the dystrophin gene, resulting in progressive muscle degeneration and multisystem complications, including cardiac and neurological dysfunction.Cardiac abnormalities, such as arrhythmias and cardiomyopathy, significantly contribute to mortality, while neurological complications, including exacerbate disease burden.Limited data in Saudi Arabia highlight the need for research on the genetic, cardiac, and neurological profiles of DMD patients to guide personalized management strategies Aim: This study evaluates and review the pathophysiology and the new update of the progress therapeutic option in DMD Settings and Design: A retrospective cross-sectional study was conducted at King Saud Medical City, Riyadh, Saudi Arabia, using medical records from 2017 to 2024.Methods: The study included 16 paediatric DMD patients aged 6-16 years with confirmed genetic diagnoses and comprehensive cardiac and neurological evaluations.Data collected encompassed demographics, genetic mutations, ambulation status, steroid use, cardiac imaging, ECG parameters (PR interval, QTc interval, QRS duration, tachycardia), and neurological complications (seizures, cognitive impairment).Statistical analyses included descriptive statistics, ANOVA, and logistic regression to identify predictors of complications, with significance set at p<0.05.Results: Exon deletions (62.5%) were the most common genetic mutation, particularly within the hotspot region spanning exons 45-55, significantly associated with higher rates of cardiac dysfunction.Cardiac abnormalities were observed in 37.5% of patients, with steroid use significantly reducing rates of cardiac dysfunction (25% in steroid users vs. 50% in non-users, OR: 0.4, p=0.047).ECG findings revealed prolonged QRS duration (31.3%),QTc interval (25.0%),PR interval (18.8%), and tachycardia (43.8%), correlating with myocardial fibrosis and disease progression.Neurological complications were prevalent, with seizures affecting 50% of patients and cognitive impairments observed in 37.5%, with significant onset at 12.3 and 11.8 years, respectively.Logistic regression identified age, steroid use, and exon deletions as significant predictors of cardiac and neurological complications.Conclusion: This study underscores the importance of corticosteroids in reducing complications in DMD patients, the mean age at genetic diagnosis of DMD in Saudi Arabia is 6.9 years.Improvements in care in recent have seen some benefits in longevity, with need for a multidisciplinary approach and the integration of advanced therapies, address the multifactorial nature of DMD progression in Saudi Arabia.
Source: ARC Journal of Pediatrics
Authors: Amal AlQassmi, Huda Khaleel, Meshari Almadhi
Institution: King Saud Medical City
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4411462138