Duchenne Muscular Dystrophy: An Atypical Adult Presentation and Comprehensive Literature Review with Management Recommendations

Background: Duchenne Muscular Dystrophy (DMD), a severe X-linked recessive disorder caused by mutations in the DMD gene and subsequent dystrophin deficiency, leads to progressive muscle degeneration, loss of ambulation, and life-limiting cardiorespiratory failure. While classically presented in early childhood, significant advancements in multidisciplinary care have dramatically extended survival, transforming DMD into a chronic condition requiring lifelong management, including transition to adult care. Concurrently, the therapeutic landscape is evolving with the advent of mutation-targeted molecular therapies alongside established supportive care standards. Aim and Objectives: This paper integrates the presentation of a rare case of DMD diagnosed in a 34-year-old male in Peshawar, Pakistan, with a comprehensive literature review. The objective is to synthesize current evidence-based knowledge regarding the etiology, diagnosis, prognostic factors, and multidisciplinary management of DMD across its full clinical spectrum. The review provides a framework for recognizing typical and atypical presentations, anticipating complications, implementing guideline-based care strategies, navigating transition issues, and understanding the potential and limitations of emerging therapies, with consideration for global perspectives and resource variability thereby highlighting current challenges and areas requiring further investigation. Methodology: A case report methodology was employed, utilizing clinical records and diagnostic findings from the presented patient. This was combined with a comprehensive literature review synthesizing information from searches of biomedical databases (PubMed, Cochrane Library), key systematic reviews and meta-analyses, international care guidelines, patient registry data, and relevant primary research, focusing on evidence pertinent to the review's objectives. Synthesis and Conclusion: DMD manifests a spectrum of severity influenced by genetic factors and potentially modulated by environmental and socioeconomic variables. Accurate diagnosis via genetic testing is paramount for appropriate management and therapy eligibility. While standardized multidisciplinary care has significantly improved outcomes, transforming DMD care necessitates addressing long-term adult needs and transition planning. Novel molecular therapies offer promise but face substantial challenges related to delivery, immunogenicity, safety, cost, and equitable global access. Optimizing outcomes requires integrating established comprehensive care standards with appropriate application of new diagnostic and therapeutic advances, tailored to individual patient needs across diverse global contexts. This review provides a synthesized overview to support clinicians in navigating the complexities of DMD diagnosis and lifelong management.