Background: Duchenne Muscular Dystrophy (DMD) is a progressive X-linked recessive myopathy that predominately affects males. Female presentation is rare and may reflect carriers status, Chromosomal abnormalities or De novo mutations. We report a 14-year-old girl presenting with markedly elevated creatine kinase (CK) and minimal neuromuscular symptoms. She uwas ltimately diagnosed with DMD.Introduction: Duchenne Muscular Dystrophy is the most common inherited neuromuscular disorder in males, with an estimated incidence of 1 in 3,500 live male births. Female cases are unusual and often overlooked, representing either manifesting carriers, chromosomal anomalies (e.g., Turner syndrome, X-autosome translocations), or de novo pathogenic variants. Recognition in females is important, as early diagnosis allows for cardiac and respiratory surveillance, initiation of supportive interventions, and genetic counselling.Case Presentation: A 14-year-old girl with a medical history of juvenile arthritis under rheumatology follow-up referred following incidental detection of profoundly elevated serum CK during routine workup. Her initial CK was 39,000 U/L (25-200U/L) and subsequently gradually declined to 8,000 U/L within few days following strict bed rest and intravenous hydration. There was no family history of neuromuscular or autoimmune disease. Clinically, she was well with only intermittent wrist pain with associated swelling. No history of preceding viral illness or excessive exercise. There were no overt gait abnormalities, falls, or significant proximal weakness on initial assessment. Metabolic and routine laboratory investigations were within normal limits. Cardiac evaluation, including echocardiography, was normal, and ophthalmologic assessment showed no abnormalities. Pulmonary function testing was reported as normal. Given the degree of CK elevation out of proportion to clinical signs, A neuromuscular workup was initiated.Investigations and Diagnosis: Targeted investigations were arranged to evaluate myopathic causes. Muscle enzyme profile, Clinical pattern and subsequent neuromuscular assessment raised strong suspicion for dystrophinopathy. The patient was diagnosed with Duchenne Muscular Dystrophy following confirmatory diagnostic evaluation (Genetic Testing/Muscle Pathology as performed).Management and Follow-Up: Multidisciplinary management was commenced with Neuromuscular, Cardiology, Respiratory and Physiotherapy input. Baseline cardiac and respiratory surveillance plans were established and symptomatic management for musculoskeletal pain initiated. Genetic counselling was offered to the family given implications for inheritance and carrier testing.Conclusion: This case underscores that DMD can present atypically in females with marked CK elevation despite minimal or no clinical weakness. Early recognition via biochemical screening and prompt neuromuscular referral enables timely Cardiac and Respiratory surveillance, Genetic counselling, and initiation of supportive therapies. Female presentations should prompt comprehensive genetic evaluation to clarify mechanism and guide family counselling.
