Kolisek M, Biomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia

 

Muscular dystrophies (MD) are inherited muscle diseases characterized by the progressive loss of muscle mass and muscle weakening. Mutations in several genes (crucial for normal muscle physiology) are causative of the disease. Well-known is the gene encoding for Dystrophin, which is involved in early childhood Duchenne MD or adolescence & adulthood Becker MD. Among genes causing when mutated less common types of MD belong those encoding for Myotilin, Caveolin-3, Lamin, Calpain-3, Dysferlin, Sarcoglycans, Telethonin, TRIM32, FKRP (Fukutin-related protein), Fukutin, LARGE, Titin, Desmin, Acetylglucosamine epimerase, Plectin, and others. Recent studies showed that some genes causative to MD are involved also in brain physiology. Therefore, patients with certain types of MD may also suffer from declined intelligence and cognitive impairments. Magnesium (Mg) plays multiple essential roles in the normal physiology of both muscular and neural tissues. Thus, it is not surprising to assume that Mg therapy may benefit MD patients. In this presentation, our experience with Mg-supplementation of MD patients will be presented, discussing possible directions for future research and the practicality of clinical/therapeutic application.