Caregiver Burden and Diagnostic Considerations in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) not only profoundly affects patients but also places a significant physical, emotional, and financial burden on caregivers. Caregivers often manage daily assistance with mobility, personal care, medical appointments, and coordination of therapies, leading to high levels of stress and fatigue. Early and accurate diagnosis of DMD is critical to optimize management and support. Definitive diagnosis typically involves a combination of clinical evaluation, elevated serum creatine kinase levels, genetic testing for dystrophin mutations, and sometimes muscle biopsy. Diagnosis often occurs at a young age, although earlier recognition is possible with heightened awareness of motor delays. Differential diagnosis may include other muscular dystrophies, congenital myopathies, and metabolic disorders that present with progressive weakness. Timely identification allows for earlier intervention, planning for multidisciplinary care, and access to disease-modifying therapies, while also helping families prepare for the long-term care needs associated with DMD.