Management Approach for Congenital Muscular Dystrophy
The management of congenital muscular dystrophy (CMD) requires a multidisciplinary care team with coordinated interventions focusing on anticipatory and preventive measures to improve quality of life, function, and longevity. 1, 2
Diagnostic Considerations
- Precise genetic diagnosis is essential and should be actively sought in all cases
- Initial screening with creatine kinase (CK) levels
- Confirmatory testing through:
- Genetic testing for specific CMD-related mutations
- Muscle biopsy when genetic testing is inconclusive
Core Management Components
Neuromuscular Management
- Regular assessment of function, strength, and range of motion at least every 6 months 3
- Glucocorticoid therapy consideration based on specific CMD subtype and clinical progression
- Complete immunization schedule to prevent respiratory complications
Rehabilitation Management
- Preventive measures to maintain muscle extensibility and minimize contractures
- Appropriate exercise and activity encouragement within tolerance limits
- Provision of adaptive devices as needed for mobility and function
- Regular podiatry assessment to prevent foot complications 4
- Custom orthotic insoles to improve biomechanics and reduce pressure points
Respiratory Care
- Regular pulmonary function monitoring
- Early introduction of cough assistance techniques
- Discussion about mechanical ventilation options before need becomes urgent 3
- Prompt treatment of respiratory infections
Cardiac Management
- Echocardiogram at diagnosis and regular follow-up (every 1-2 years) 3
- ACE inhibitors as first-line therapy for cardiac involvement
- Beta-blockers may be added based on cardiac function
- Consider angiotensin receptor blockers (ARBs) if ACE inhibitors not tolerated 4
Orthopedic Management
- Monitoring for scoliosis and joint contractures
- Consideration of surgical options for contractures in specific situations
- Proper wheelchair positioning with appropriate foot support
- Interventions for foot position to prevent deformities
Gastrointestinal/Nutritional Management
- Regular monitoring of weight gain
- Nutritional assessment for both underweight and overweight concerns
- Attention to potential swallowing difficulties
- Dietary modifications as needed
Psychosocial Support
- Family support and early intervention for developmental concerns
- Assessment and intervention for learning, behavior, and coping
- Promotion of independence and social development
- Educational support through individualized education programs
End-of-Life Care Considerations
- Palliative care for pain management and emotional support
- Hospice care when appropriate for end-stage patients 3
- Advance care planning discussions with patient and family
Transition Planning
- Preparation for transition to adult services
- Development of educational and vocational opportunities
- Encouraging self-advocacy in medical care 3
Common Pitfalls to Avoid
- Delaying genetic diagnosis, which may impact eligibility for emerging mutation-specific therapies
- Underestimating quality of life in patients with advanced disease
- Failing to discuss mechanical ventilation options early in disease course
- Not recognizing the importance of multidisciplinary care coordination
- Overlooking psychosocial aspects of care, which are central to management
The management of CMD requires ongoing coordination between neurology, pulmonology, cardiology, orthopedics, rehabilitation, nutrition, and psychosocial services to address the multisystem nature of the disease and optimize patient outcomes.