What are the management options for muscular dystrophy?

Management of Muscular Dystrophy

The cornerstone of muscular dystrophy management includes glucocorticoid therapy, multidisciplinary care coordination, and regular monitoring of disease progression to slow decline in muscle strength and function while preventing complications. 1

Types of Muscular Dystrophy and Diagnosis

• Duchenne muscular dystrophy (DMD) is the most common form, characterized by progressive muscle weakness with proximal-to-distal progression 1
• Diagnosis requires genetic testing to identify dystrophin mutations, with full characterization of the mutation needed to understand disease progression 1
• Regular assessments of function, strength, and range of motion are essential to define disease phase and determine appropriate interventions 1

Pharmacological Management

Glucocorticoid Therapy

• Glucocorticoids are the only medications currently available that slow decline in muscle strength and function in DMD 1
• Prednisone/prednisolone at 0.75 mg/kg daily is the recommended dose, showing improvement in muscle strength 1, 2
• Deflazacort at 0.9 mg/kg daily has similar efficacy with a slightly different side effect profile 1
• Benefits include:
  • Slowed decline in motor function
  • Prolonged ambulation
  • Reduced risk of scoliosis
  • Stabilized pulmonary function
  • Potential improvement in cardiac function 1

Emerging Therapies

• Eteplirsen (EXONDYS 51) is FDA-approved for DMD patients with mutations amenable to exon 51 skipping 3
• Administered at 30 mg/kg once weekly as an intravenous infusion 3
• Approval based on increased dystrophin in skeletal muscle, with continued approval contingent on confirmatory trials 3
• Gene transfer therapy using adeno-associated virus vectors and other exon skipping agents are under investigation 4, 5

Multidisciplinary Care Components

Neuromuscular Management

• Regular assessment of function, strength, and range of motion every 6 months 1
• Standardized testing including timed function tests, motor function scales, and activities of daily living 1
• Early intervention with gentle exercise and activity programs to maintain function 6

Rehabilitation Management

• Physical and occupational therapy assessments every 4 months 1
• Preventive measures to maintain muscle extensibility and minimize contractures 1, 2
• Provision of adaptive devices and environmental controls as appropriate 1, 6

Cardiac Management

• Regular cardiac monitoring with ECG, echocardiogram, and Holter monitoring 1, 6
• Early intervention with ACE inhibitors and beta-blockers for cardiac dysfunction 1, 6
• Echocardiogram at diagnosis or by age 6 years, with follow-up at least every 24 months 1

Respiratory Management

• Monitoring of pulmonary function with vital capacity measurements 2
• Implementation of assistive cough devices and non-invasive ventilation as disease progresses 2
• Consultation with pulmonologist when vital capacity declines 2

Orthopedic Management

• Monitoring and management of scoliosis and joint contractures 2
• Surgical intervention for tendon contractures in specific situations 1
• Proper positioning for wheelchair use 1

Psychosocial Support

• Designation of a care coordinator as point of contact for families 1, 6
• Regular screening for depression, anxiety, and cognitive issues 1, 6
• Development of individualized education plans for children with DMD 1
• Psychotherapy interventions for emotional adjustment and coping 1
• Palliative care for pain management and emotional support as disease progresses 1, 6

Nutritional Management

• Consultation with dietitian to control weight and maintain healthy diet 2
• Particularly important for patients receiving glucocorticoids 2

Common Pitfalls and Caveats

• Delaying glucocorticoid therapy can lead to faster disease progression; consider early implementation 1
• Inadequate monitoring of glucocorticoid side effects can lead to complications; regular follow-up with specialists is essential 1, 2
• Failure to address cardiac and respiratory complications early can significantly impact mortality 1
• Overlooking psychosocial aspects can lead to reduced quality of life; comprehensive support is necessary 1
• Lack of coordination between specialists can result in fragmented care; a designated care coordinator is crucial 1, 6

The management of muscular dystrophy requires a comprehensive approach with regular monitoring and anticipatory care to improve clinical course, survival, and quality of life 7. As research advances, novel therapies targeting specific genetic mutations offer hope for more personalized treatment options 4, 5.