Duchenne Muscular Dystrophy - Case Study

Abstract (group - at the end) A fictional case developed for educational purposes...

Introduction (adam) Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene. The mutation causes a defect in the synthesis of the protein dystrophin, resulting in progressive muscle degeneration. DMD has an incidence of about 1:3500 live male births. Most patients are diagnosed at approximately 5 years of age, when their physical ability diverges markedly from that of their peers. This disease results in progressive deterioration in limb and trunk strength, resulting in loss of independent ambulation by age 12. Milder allelic forms of the disease also exist, including intermediate muscular dystrophy and Becker muscular dystrophy, the disease progression is slow in this case with loss of ambulation occurring at age 16 or over. The molecular basis of DMD has been for over 30 years and many promising therapeutic strategies have been developed. Advancements in Corticosteroid, respiratory, cardiac, orthopaedic, and rehabilitative interventions have led to improvements in function, quality of life, health, and longevity, with children who are diagnosed today having the possibility of a life expectancy into their fourth decade. An Interdisciplinary approach is critical for management of DMD in which the individual and family can access the expertise for the required multisystem.. A coordinated clinical care role can be provided by a wide range of health-care professionals depending on local services, including (but not limited to) neurologists or paediatric neurologists, rehabilitation specialists, neurogeneticists, paediatricians, and primary-care physicians.