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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    Personal take on this article: The research article estimates the prevalence of GNE myopathy (GNEM), a rare neuromuscular disorder, using data from population genetic databases. GNEM is caused by mutations in the GNE gene and is characterized by progressive muscle atrophy. Due to underdiagnosis, current prevalence estimates range between 1 to 9 cases per million, but these are likely underestimations. This study uses allele frequencies from large genetic …

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