Duchenne Muscular Dystrophy Complicating Pregnancy: Case Report and Review of the literature
Keywords:
Management, Diagnosis, Dystrophin Gene, Muscle Degeneration, Genetic Disorder, Review, Case Report, Duchenne Muscular DystrophyAbstract
Duchenne muscular dystrophy (DMD) represents a severe genetic disorder characterized by progressive muscle weakness and wasting. We present a case of a healthy male offspring coming from a mother carrier with the mutation c.9568c>T, p.Arg3190, depicting an extremely rare case. At the same time, it will provide a comprehensive review of the current understanding of the disease, including its etiology, pathophysiology, clinical features, diagnostic methods, and management strategies. The review section highlights the genetic basis of DMD, emphasizing mutations in the dystrophin gene and its consequences on muscle structure and function. Additionally, the pathophysiological mechanisms leading to muscle degeneration, such as impaired calcium homeostasis and increased oxidative stress, are discussed. Diagnostic methods, including genetic testing, muscle biopsy, and imaging techniques, are outlined, along with their respective limitations and benefits. Lastly, various management approaches are examined, ranging from symptomatic treatment, physical therapy, and assistive devices to emerging therapeutic strategies such as gene therapy and exon skipping. Through this case report and review, we aim to enhance the understanding of DMD and facilitate improved diagnosis and management of affected individuals.
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