New health care considerations needed to improve quality of life for Duchenne muscular dystrophy patients

As treatment improves, more patients live into adulthood, which creates new opportunities and challenges in care

February 26, 2018

Duchenne muscular dystrophy (DMD) is a rare, sex-linked genetic disorder that primarily affects boys. It appears during early childhood and causes muscle weakness which gets worse over time, finally affecting the heart and lungs. In 2007, approximately 15 out of every 100,000 boys and young men between the ages of 5 and 25 had muscular dystrophy.

Advances in the treatment of DMD, particularly the use of nocturnal ventilation, have increased the lifespan of patients: Survival to age 25 years increased from 13 percent among patients born in the 1970s to 49 percent among those born in the 1990s. Widespread survival into adulthood increases the importance of treating disease complications, improving quality of life, coordinating transitions from childhood to adulthood, and psychosocial management. Specialists have developed greater expertise in managing DMD using existing and emerging therapies. Further, greater emphasis has been placed on diagnostic and therapeutic strategies that prevent or lessen complications related to the disorder.

As a result of these advances, care considerations—guidelines ensuring baseline care for patients—for DMD patients were recently updated. Further, three new topics—primary care and emergency management, endocrine management, and transitions of care across lifespan—were added to the guidance.

The updated care considerations have been published in a series of three papers. The papers, “Diagnosis and management of Duchenne muscular dystrophy,” parts 1, 2, and 3, were co-authored by two RTI researchers, Carla Bann, RTI Fellow in statistics and psychometrics, and Angela Blackwell, public health manager.

“The care considerations have the potential to greatly improve the lives of individuals with DMD and their families,” Bann said. “Giving providers these tools can help successfully manage changing needs and transitions in care of DMD patients across the lifespan.”

Collaborative efforts such as this bring together specialists from different fields to provide advice and guidance to care providers. As therapies and treatments for DMD continue to evolve, care considerations should be updated in order adapt to the needs of patients and caregivers. With life expectancy for DMD patients increasing, more attention must be placed on enabling them to lead full, productive and happy lives.

The study was contracted by the Centers for Disease Control and Prevention. Dr. Bann and Ms. Blackwell assisted with the coordination and design of the study, the collection and interpretation of data, and writing the papers.