Published online Dec 20, 2025. doi: 10.5662/wjm.v15.i4.102408
Revised: February 21, 2025
Accepted: February 27, 2025
Published online: December 20, 2025
Processing time: 292 Days and 2 Hours
Gastrointestinal (GI) manifestations are prevalent in genetic myopathies, posing significant diagnostic and management challenges.
To synthesize evidence on the diagnostic approaches, management strategies, patient perspectives, and future research directions regarding GI symptoms in genetic myopathies.
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.
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.
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 me
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.