What is the management plan for Duchenne muscular dystrophy?

From the Guidelines

The management plan for Duchenne muscular dystrophy (DMD) requires a multidisciplinary approach focused on slowing disease progression and managing complications, with corticosteroids as the cornerstone of pharmacological treatment, and a comprehensive care plan that includes cardiac, respiratory, physical, occupational, orthopedic, and nutritional support. This approach is based on the most recent and highest quality evidence, including the study by 1, which provides key recommendations for clinical practice in the management of DMD.

Key Components of Management

• Pharmacological treatment: Corticosteroids, such as prednisone (0.75 mg/kg/day) or deflazacort (0.9 mg/kg/day), are recommended to preserve muscle strength and function, as supported by studies such as 1 and 1.
• Cardiac management: ACE inhibitors like enalapril (0.1 mg/kg/day initially) and beta-blockers such as carvedilol may be added as disease progresses, as recommended by studies such as 1 and 1.
• Respiratory support: Nocturnal non-invasive ventilation is typically initiated when forced vital capacity falls below 50% predicted, with a low threshold for enhanced monitoring and critical care input, as recommended by 1.
• Physical and occupational therapy: Daily stretching routines and occupational therapy help maintain independence in daily activities and prevent contractures.
• Orthopedic interventions: Ankle-foot orthoses and spinal monitoring for scoliosis are essential for preventing and managing musculoskeletal complications.
• Nutritional support: Calcium and vitamin D supplementation are crucial for supporting bone health while on corticosteroids, as recommended by studies such as 1 and 1.

Monitoring and Follow-up

Regular monitoring includes:

• Biannual neuromuscular assessments
• Annual cardiac evaluations
• Pulmonary function tests
• Bone density scans
• Close liaison with palliative care services to support parallel planning and the development of individual advanced care plans, as recommended by 1.

By following this comprehensive management plan, patients with DMD can receive optimal care to slow disease progression and manage complications, ultimately improving their quality of life and reducing morbidity and mortality.

From the Research

Management Plan for Duchenne Muscular Dystrophy

The management plan for Duchenne muscular dystrophy (DMD) involves a multidisciplinary approach to improve the quality of life and slow the progression of symptoms associated with the disease. The current treatment options include:

• Glucocorticoids, such as prednisone and deflazacort, which have been shown to improve muscle strength and function in the short term 2
• Physical therapy to maintain muscle function and mobility
• Respiratory therapy to manage respiratory complications
• Cardiac management to monitor and treat cardiac complications
• Bone health maintenance to prevent osteoporosis and fractures
• Orthopedic interventions to manage musculoskeletal complications
• Dietary considerations to ensure adequate nutrition and manage weight gain

Emerging Therapies

Emerging therapeutic approaches for DMD include:

• Gene transfer therapy using adeno-associated virus (AAV) vectors 3
• Exon skipping agents, which have been shown to be relatively safe and effective in preserving a significant portion of dystrophin protein function 3
• Stop codon read-through therapy, which aims to restore dystrophin protein production by reading through premature stop codons in the dystrophin gene 4

Transition and Management

The transition from pediatric to adult care and from the ambulatory to the non-ambulatory phase requires a multidisciplinary approach and the identification of clinically meaningful outcome measures 4. The management of DMD in advanced disease stages involves a focus on cardiac, respiratory, orthopedic, and nutritional management, as well as the use of palliative care to improve quality of life 4, 5.

Safety and Efficacy of Corticosteroids

Corticosteroids are a common treatment for DMD, and their safety and efficacy have been evaluated in several studies. The evidence suggests that corticosteroids improve muscle strength and function in the short term, but the long-term benefits and hazards of treatment are not well established 6, 2. The choice of corticosteroid and dosing regimen should be individualized based on the patient's response to treatment and the risk of adverse effects 6, 2.