Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)

Excerpt

Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy, affecting 1 in 3500 live male births. Mutations in the X chromosome result in an absence of dystrophin, causing progressive muscle degeneration and loss of ambulation by the early teens with respiratory, orthopaedic and cardiac complications. Without intervention these complications lead to death at a mean age of 19 years. However, the natural history of DMD is well-known and can be changed with proactive multidisciplinary management to address predictable complications[1]. Better care has led to a growing adult DMD population, challenging the notion of DMD as a “paediatric” disease. This population faces particular challenges, not only medical (e.g. associated with long-term steroid usage, orthopaedic, ventilation, and cardiac, gastrointestinal or genitourinary problems), but those associated with wider issues of transition. These include medical transfer from paediatric to adult services, and social transition to independent living and full societal inclusion. …