Abstract

Background: Muscular dystrophies (MDs) are a group of genetically heterogeneous diseases characterized by progressive muscle degeneration and functional impairment. Current treatment options remain limited, highlighting the urgent need for biomarkers to enhance diagnosis, monitor disease progression, and evaluate treatment efficacy across different subtypes, such as Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), facioscapulohumeral muscular dystrophy (FSHD), and limb-girdle muscular dystrophy (LGMD).
Methods: A search of the MEDLINE/PubMed databases was conducted for original and review articles that examined biomarkers associated with muscular dystrophies. Based on the findings from these articles, a comprehensive review was constructed.
Results: The study identified significant advancements in various categories of biomarkers, including protein biomarkers, microRNA profiles, imaging parameters, functional assessments, as well as emerging fields such as extracellular vesicles and epigenetic modifications.
Conclusions: Research on biomarkers in muscular dystrophies has evolved from a focus on single biomarkers to a comprehensive multiomics approach. Future research directions should emphasize multicenter validation and the development of biomarker-guided therapeutic strategies to advance the application of personalized medicine in muscular dystrophies.

DOI: 10.7754/Clin.Lab.2025.251112