Duchenne Muscular Dystrophy - Young Adult Case Study

Abstract:

Introduction:

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 in 3500 live male births. Most patients are diagnosed at approximately 5 years of age, when they lag behind their peers in physical abilities.

This disease results in progressive deterioration in limb and trunk strength, resulting in loss of independent ambulation by age 12. In milder forms of the disease such as intermediate muscular dystrophy and Becker muscular dystrophy, the process of degeneration is slow and loss of ambulation occurs at around age 16.

The genetic basis of DMD has been known for over 30 years and many encouraging therapeutic strategies have been developed.  Advancements in corticosteroid, respiratory, cardiac, orthopedic, and rehabilitative interventions have led to improvements in function, quality of life, health, and longevity. Children diagnosed with DMD today have the possibility of living into their 40s. An interdisciplinary approach is critical for management of DMD in which the individual and family can access the expertise for the required multi-system. The interdisciplinary team would include a wide range of health-care professionals depending on local services, including (but not limited to) primary care Physicians, pediatricians, neurologists, physiotherapists and occupational therapists.