Systematic Reviews
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Methodol. Dec 20, 2025; 15(4): 102408
Published online Dec 20, 2025. doi: 10.5662/wjm.v15.i4.102408
Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions
Mohammed Al-Beltagi, Nermin Saeed, Adel Bediwy, Reem Elbeltagi
Mohammed Al-Beltagi, Department of Paediatrics, Faculty of Medicine, Tanta University, Tanta 31511, Alghrabia, Egypt
Mohammed Al-Beltagi, Department of Pediatric, University Medical Center, King Abdulla Medical City, Arabian Gulf University, Manama 26671, Bahrain
Nermin Saeed, Department of Pathology, Medical Microbiology Section, Salmaniya Medical Complex, ‎Governmental Hospitals, Manama 12, Bahrain
Nermin Saeed, Department of Pathology, Medical Microbiology Section, The Royal College of Surgeons in Ireland-Bahrain, Busaiteen 15503‎, Muharraq, Bahrain
Adel Bediwy, Department of Pulmonology, Faculty of Medicine, Tanta University, Tanta 31527, Alghrabia, Egypt
Adel Bediwy, Department of Pulmonology, University Medical Center, King Abdulla Medical City, Arabian Gulf University, Manama 26671, Bahrain
Reem Elbeltagi, Department of Medicine, The Royal College of Surgeons in Ireland-Bahrain, Busaiteen 15503, Muharraq, Bahrain
Author contributions: Al-Beltagi M conceptualized and designed the study, conducted the literature search, and wrote the initial draft of the manuscript; Saeed N contributed to data extraction, quality assessment, and critical revision of the manuscript; Bediwy A assisted in data synthesis, statistical analysis, and manuscript editing; Elbeltagi R contributed to manuscript formatting, reference management, and final proofreading; all authors reviewed and approved the final version of the manuscript.
Conflict-of-interest statement: The authors declare no conflicts of interest related to this study. No financial, personal, or professional relationships influenced the research, analysis, or manuscript preparation.
PRISMA 2009 Checklist statement: The authors have read the PRISMA 2009 Checklist, and the manuscript was prepared and revised according to the PRISMA 2009 Checklist.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Mohammed Al-Beltagi, MD, PhD, Professor, Department of Paediatrics, Faculty of Medicine, Tanta University, El Bahr Street, Tanta 31511, Alghrabia, Egypt. mbelrem@hotmail.com
Received: October 16, 2024
Revised: February 21, 2025
Accepted: February 27, 2025
Published online: December 20, 2025
Processing time: 292 Days and 2 Hours
Abstract
BACKGROUND

Gastrointestinal (GI) manifestations are prevalent in genetic myopathies, posing significant diagnostic and management challenges.

AIM

To synthesize evidence on the diagnostic approaches, management strategies, patient perspectives, and future research directions regarding GI symptoms in genetic myopathies.

METHODS

A systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. We searched PubMed, Scopus, EMBASE, and Web of Science from inception to December 2024. Eligible studies reported GI manifestations in genetic myopathies, including clinical evaluations, imaging, physiological tests, histopathology, and genetic analyses. Inclusion criteria encompassed original research studies, review articles, case reports, and clinical guidelines published in peer-reviewed journals. Exclusion criteria included conference abstracts without full-text availability and non-peer-reviewed sources. Two independent reviewers screened studies and extracted data. They assessed methodological quality using the Newcastle-Ottawa Scale for observational studies, A MeaSurement Tool to Assess Systematic Reviews for systematic reviews, and the Joanna Briggs Institute checklist for case reports. A systematic narrative synthesis was employed to summarize the findings.

RESULTS

A total of 234 studies met the inclusion criteria. GI manifestations varied widely, with dysphagia, gastroesophageal reflux, abdominal pain, constipation, diarrhea, and fecal incontinence being the most frequently reported symptoms. The included studies highlighted a multidisciplinary diagnostic approach incorporating clinical assessment, imaging, physiological testing, histopathology, and genetic testing. Management strategies ranged from dietary interventions and rehabilitative therapies to pharmacological treatments and surgical procedures. Patient perspectives underscored the significant impact of GI symptoms on quality of life, social interactions, and emotional well-being. The main limitations of the included studies were high heterogeneity in study design, small sample sizes, and the potential risk of bias due to limited methodological rigor in some reports.

CONCLUSION

This review underscores the complexity of GI manifestations in genetic myopathies and the need for a comprehensive, multidisciplinary management approach. Future research should focus on elucidating molecular mechanisms, identifying biomarkers, and developing targeted therapies to improve patient outcomes. The findings have implications for both clinical practice and public health, emphasizing the necessity of early diagnosis and personalized management strategies.

Keywords: Genetic myopathies; Gastrointestinal manifestations; Diagnostic approaches; Multidisciplinary management; Patient perspectives; Future directions; Quality of life

Core Tip: Gastrointestinal (GI) manifestations in genetic myopathies are frequently overlooked yet significantly impact patient outcomes. This systematic review highlights the prevalence, diagnostic challenges, and management strategies for GI dysfunction in conditions like Duchenne muscular dystrophy, Becker muscular dystrophy, and mitochondrial myopathies. The study underscores the role of imaging, motility testing, and genetic evaluation in guiding care. Additionally, it explores the influence of genetic and environmental modifiers on symptom variability. A multidisciplinary approach integrating gastroenterology, neurology, and nutrition is essential for improving quality of life. Future research should focus on targeted therapies and molecular mechanisms to optimize patient management.