Muscular Dystrophy

Muscular dystrophies are a heterogeneous group of rare neuromuscular disorders that are genetically inherited and characterized by progressive muscle weakness. The patients affected by muscular dystrophies are at a higher risk of suffering multiple comorbidities, such as loss of ambulation, joint contractures, cardiomyopathy, sleep-disordered breathing, respiratory failure, dysphagia, malnutrition, and osteopenia/osteoporosis, among other ailments. The following case study is an example of a patient with Duchenne muscular dystrophy, and it showcases the challenges that arise as the patient transitions from pediatric to adult healthcare providers. Following the existing published guidelines for the diagnosis and management of muscular dystrophies, the case highlights the need for coordinated multidisciplinary care and early preventive measures as a means to provide optimal care for these patients. The role of primary care providers is of the utmost importance as they are at the center of this coordinated effort among the specialists with the objective of maintaining adequate continuity of care.