As new diagnostic tools and treatments help patients with Duchenne muscular dystrophy (DMD) live into adulthood, new challenges arise in areas like education, independence, personal relationships, health, and intimacy.
To address the emerging needs of patients, caregivers and physicians of DMD patients, the Centers for Disease Control and Prevention (CDC) revised guidelines to improve patient transitions into their 30s and beyond.
“This report emphasizes helping people achieve their best possible lives, not just prolong their survival,” David Birnkrant, MD, director of the division of pediatric pulmonary medicine at MetroHealth who helped coordinate the guidelines, said in a press release.
“Driven by patients, their families, and advocacy organizations, this report reflects a fundamental change in DMD care. The document emphasizes quality of life by attending to psychosocial issues, care coordination, and improving patient transitions from childhood to adulthood,” he said.
Originally issued in 2010, the revised guidelines were published as three separate articles in The Lancet Neurology, titled:
- “Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management”
- “Diagnosis and management of Duchenne muscular dystrophy, part 2: Respiratory, cardiac, bone health, and orthopedic management”
- “Diagnosis and management of Duchenne muscular dystrophy, part 3: Primary care, emergency management, psychosocial care, and transitions of care across the lifespan“
In the first part, CDC researchers present care considerations for the diagnosis of DMD and management of neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia, or difficulty swallowing) processes.
The second part presents the latest recommendations for respiratory, cardiac, bone health and osteoporosis, and orthopedic and surgical management for boys and men with DMD. Additionally, researchers provide guidance on cardiac management for female carriers of a disease-causing mutation.
In the third part, the CDC focuses on primary care, emergency management, psychosocial care, and transitions of care across the patients’ lives. Many primary care and emergency medicine clinicians are inexperienced at managing the complications of DMD.
The guidelines’ third part helps navigate the acute and chronic medical conditions that these first-line providers are likely to encounter. With longer lives, people with DMD face a unique set of challenges related to psychosocial issues and transitions of care.
This document discusses assessments and interventions that are designed to improve mental health and independence, functionality, and quality of life in critical domains of living, including healthcare, education, employment, interpersonal relationships, and intimacy.
The guidelines also highlight the importance of having a single clinician take a lead role, such as a neuromuscular specialist who has known the patient since diagnosis. The committee members who wrote the guidelines believes this would help improve multidisciplinary care based on each patient’s definition of a good quality of life.
The report draws attention to new and emerging DMD treatments, like Exondys 51 (eteplirsen), for patients who have a mutation of the dystrophin gene amenable to exon 51 skipping, or Emflaza (deflazacort), the first glucocorticoid approved specifically for DMD, which decreases inflammation.
The revised guidelines include 11 topic areas, eight of which were in the 2010 guidelines. The three new topics are “primary care and emergency management,” “endocrine management (growth, development and hormone deficiencies),” and “transitions of care across the lifespan.”
“There is definitely a new optimism,” Birnkrant concluded. “All of the specialties caring for DMD patients have shifted to more anticipatory strategies to achieve prevention, earlier diagnosis, and better treatment of predictable and potentially modifiable disease complications.
“The new guidelines are intended to provide a template for the best and most up-to-date DMD care. They will help us, as clinicians, to better understand and address the needs of our courageous patients and their families,” he said.