An 11-year-old boy was diagnosed with Duchenne muscular dystrophy (DMD) after presenting with symptoms of an acute respiratory illness, highlighting the challenges of recognizing the condition amid overlapping clinical features, according to a case report published in Cureus.
Clinical Presentation and Diagnostic Challenges
The boy, whose identity was not disclosed, presented with fever, a productive cough, and mild respiratory distress, with a peripheral oxygen saturation of 88%-90% on room air. His medical history revealed delayed motor milestones and progressive lower-extremity weakness over several months, which had not previously prompted investigation for a neuromuscular disorder.
During the acute illness, healthcare providers noted the boy’s difficulty rising from a seated position, requiring him to use his upper extremities for support—a maneuver consistent with proximal muscle weakness. Physical examination also identified calf pseudohypertrophy, a hallmark of DMD, though this was not immediately linked to his respiratory symptoms.
Key Diagnostic Clues
Further evaluation uncovered a serum creatine kinase (CK) level of 8,500 U/L, approximately 34 times the upper reference limit, indicating significant skeletal muscle injury. While elevated CK levels are not specific to DMD, the combination with delayed motor development, progressive weakness, and the Gowers maneuver prompted molecular testing.
Genetic analysis revealed a pathogenic hemizygous deletion of exons 45-50 of the DMD gene, confirming the diagnosis of DMD. The case underscores the importance of distinguishing acute respiratory symptoms from long-standing neuromuscular abnormalities, as the boy’s underlying condition was only recognized after his respiratory illness prompted a comprehensive workup.
Implications for Clinical Practice
The report emphasizes the need for focused neuromuscular assessments in patients with unexplained motor delays or progressive weakness, particularly during acute illnesses. Careful distinction between acute findings and longstanding symptoms is essential,
the authors wrote, noting that delayed recognition of DMD can lead to prolonged diagnostic journeys and missed opportunities for early intervention.
DMD, an X-linked recessive disorder, typically manifests in early childhood, but cases like this highlight the variability in clinical presentation. The condition results from mutations in the DMD gene, leading to progressive muscle degeneration and, without treatment, often requiring wheelchair dependence by adolescence.
Next Steps and Prognosis
The boy’s care team is now focusing on managing his condition through multidisciplinary approaches, including physical therapy, corticosteroid therapy, and monitoring for cardiac and respiratory complications. While no cure exists, early diagnosis allows for interventions that can slow disease progression and improve quality of life.
The study, published on October 9, 2026, was authored by M. Ahsan, E. Sharma, M. Iqbal, and colleagues. It serves as a warning about the critical role of thorough clinical evaluation in uncovering rare but treatable conditions.