Duchenne Muscular Dystrophy Presenting with Cardiomyopathy and Neurological Decline: A Case Report

Abstract

Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked neuromuscular disorder caused by the absence of dystrophin protein, which is essential for muscle fiber integrity. It is one of the most severe types of inherited muscular dystrophies affecting approximately 1 in every 3,500 male births worldwide. The estimated prevalence rates of the most common forms of muscular dystrophy are 1 in 5,000 live male births for Duchenne Muscular Dystrophy (DMD). Being the most common and most severe type of muscular dystrophy, Duchenne Muscular Dystrophy (DMD) is caused by mutations in the X-linked dystrophin gene. Loss of dystrophin protein leads to recurrent myofiber damage, chronic inflammation, progressive fibrosis and dysfunction of muscle stem cells. The risk factors associated with DMD include family history, gender, muscle weakness, low BMI, poor lung function and genetic variation. Based on ambulation, the DMD Care Consideration working Group created a classification system for DMD patients. In most cases, there is a delay in motor development, resulting in wheelchair confinement after 3 years of disease and ultimately an early death from respiratory or cardiac issues. It is quite complicated to diagnose DMD due to the limited facilities of genetic testing and its high-cost. The accurate and early diagnosis of DMD plays an important role in effective patient management. In areas with limited facilities, the clinician should conform the DMD not only by anamnesis and clinical features, but also by taking a patient's history, testing for genes and detecting elevated creatine kinase and other transaminases in the lab, progressive motor weakness, myopathies on EMG is still the most significant finding of the illness. Although new treatments continue to strive for a cure for this life-threatening condition, treatment approaches include corticosteroid therapy, intermittent positive pressure breathing have improved function, ambulation, quality of life, and life expectancy. Here, we report a case of a 27 year’s male patient, who has DMD and exhibits notable cardiac, neurological and clinical symptoms.