What is the management plan for Duchenne muscular dystrophy?

Management of Duchenne Muscular Dystrophy

The management of Duchenne muscular dystrophy (DMD) requires a comprehensive multidisciplinary approach focusing on early diagnosis, proactive interventions, and regular monitoring to optimize quality of life and reduce morbidity and mortality. 1

Diagnosis

• Suspect DMD in male children with abnormal muscle function (delayed walking >16-18 months, Gowers' sign, frequent falls), increased serum creatine kinase, or unexplained elevated transaminases 1
• Confirm diagnosis through genetic testing for dystrophin mutations (deletions, duplications, point mutations) 1
• If genetic testing is inconclusive, muscle biopsy showing absence of dystrophin protein may be necessary 1
• Full characterization of the mutation is essential for genetic counseling and consideration of mutation-specific therapies 1

Core Management Components

Neuromuscular Management

• Initiate glucocorticoid therapy as the primary pharmacological intervention to slow disease progression 1, 2
• Perform regular assessments (at least every 6 months) of function, strength, and range of movement to monitor disease progression 1
• Use standardized testing methods including manual muscle testing, goniometry, and timed function tests to track progression 1

Rehabilitation Management

• Implement preventive measures to maintain muscle extensibility and minimize contractures 1
• Encourage appropriate exercise and activity based on disease stage 1
• Provide adaptive devices as needed to support function and participation 1
• Ensure regular physical therapy to maintain range of motion and prevent contractures 3

Respiratory Management

• Monitor respiratory function regularly with pulmonary function tests 1
• Implement airway clearance techniques and respiratory support as needed 1
• Consider preoperative evaluation by pulmonologist before any surgical procedures 1
• Screen for sleep-disordered breathing, particularly as disease progresses 1, 4

Cardiac Management

• Perform echocardiogram at diagnosis or by age 6 years 1
• Schedule cardiac evaluations every 24 months until age 10, then annually thereafter 1
• Initiate standard heart failure interventions (ACE inhibitors, beta-blockers) with deterioration of function, even if asymptomatic 1

Orthopedic Management

• Monitor for development of scoliosis, particularly after loss of ambulation 1, 3
• Consider surgical intervention for scoliosis when Cobb angle reaches 30-50 degrees 1
• Evaluate for joint contractures, particularly in lower extremities (hip, knee, ankle) 1, 3
• Consider surgical options for tendo-Achilles contractures in specific situations 1

Nutritional and GI Management

• Monitor for normal weight gain appropriate for age 1
• Perform nutritional assessments for both overweight and underweight concerns 1
• Evaluate for possible dysphagia, particularly in advanced stages 1

Psychosocial Management

• Provide family support and early assessment/intervention for development, learning, and behavior 1
• Conduct comprehensive neurocognitive assessment at diagnosis and before entering formal schooling 1
• Screen for autism spectrum disorders, speech/language delays, and other neurodevelopmental issues 1
• Promote independence and social development appropriate to disease stage 1
• Plan for transition to adult services as the patient ages 1

Special Considerations

• Avoid chiropractic manipulation due to risks associated with joint instability, progressive scoliosis, and respiratory compromise 4
• Optimize cardiac, nutritional, and respiratory status before any surgical procedures 1
• Consider emerging therapies including exon-skipping agents and gene therapy approaches for eligible patients 2, 5
• Provide genetic counseling for at-risk female family members 1

Disease Progression Management

• Early ambulatory stage: Focus on maintaining muscle strength, preventing contractures, and optimizing function 6
• Late ambulatory stage: Implement adaptive equipment, monitor for scoliosis development, and continue respiratory assessments 6
• Non-ambulatory stage: Intensify respiratory and cardiac monitoring, manage scoliosis, and focus on upper extremity function 6, 7

The comprehensive management of DMD has evolved significantly with earlier interventions and multidisciplinary care, resulting in improved quality of life and increased life expectancy for patients with this progressive disorder 5, 6.