Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by mutations in the dystrophin gene. Approximately 10-15% of cases result from nonsense mutations (nmDMD), which ataluren targets to restore functional dystrophin. This review provides clinical guidelines for ataluren use and proposes an implementation model in Sweden.   The study conducted a targeted review of literature (1995-2018), including trials, guidelines, and commentaries on nmDMD and ataluren. It focused on treatment …

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Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder characterized by progressive muscle degeneration, often leading to severe cardiac complications. This systematic review aimed to analyze and grade the available literature on predictors of cardiac disease in DMD patients. The researchers reviewed studies published from 2000 to 2022, involving 9,232 patients across 33 publications. The focus was on pharmacological treatments and genetic mutations that influence heart health in DMD patients, …

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