Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions

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 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.