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DOI 10.1016/j.lfs.2025.123659

Медицинская библиотека · Life sciences · 2025

Gender disparities in myotonic dystrophy 1.

Chakraborty Dipti, Borthakur Shreya, Sarkar Ritu, Singh Mayanglambam Dhruba

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Аннотация

Myotonic Dystrophy Type 1 (DM1) is a complex, inherited disorder characterized by significant clinical heterogeneity, affecting multiple organ systems with varying severity and age of onset. It is a multisystemic disorder with a wide range of clinical presentations that lead to symptoms and complications associated with various body systems. Predicting the overall phenotype and prognosis is challenging due to the lack of a single determining factor, complicating medical management and clinical trials. While extensive research has explored the genetic and molecular mechanisms of DM1, the influence of gender on disease manifestations, progression, and outcomes remains elusive. Emerging evidence suggests that male patients often experience greater morbidity and mortality with severe muscular, cardiac, central nervous system, and respiratory impairments, while females are more prone to ophthalmological, gastrointestinal, and endocrine complications. Potential gender-based differences in inheritance patterns also require further investigation. Despite these disparities, gender-specific considerations are largely absent in clinical management and research, limiting the development of targeted therapeutic strategies. This review provides a comprehensive analysis of gender-related differences in DM1, emphasizing their implications for disease prognosis, diagnosis, and treatment. Recognizing gender as a crucial factor in DM1 research and clinical practice could improve patient outcomes and more personalized therapeutic approaches.

Для цитирования: Chakraborty Dipti, Borthakur Shreya, Sarkar Ritu, Singh Mayanglambam Dhruba. Gender disparities in myotonic dystrophy 1.. Life sciences. 2025. DOI: 10.1016/j.lfs.2025.123659.

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