From the Research
Congenital muscular dystrophy (CMD) is a group of genetic disorders characterized by muscle weakness present at birth or developing in early infancy, with management focusing on supportive care and symptom control to maximize quality of life and functional abilities. The condition is progressive and can affect multiple body systems beyond the muscles. According to the most recent and highest quality study available, 1, corticosteroid therapy may be considered as a treatment for patients with alpha-dystroglycanopathies due to GMPPB mutations, a subtype of CMD.
Key Characteristics of CMD
- Muscle weakness present at birth or developing in early infancy
- Progressive condition affecting multiple body systems
- No cure available, but management focuses on supportive care and symptom control
- Multidisciplinary approach to treatment, including physical therapy, occupational therapy, and respiratory support as needed
Management and Treatment
- Physical therapy to maintain muscle function and prevent contractures
- Occupational therapy to assist with daily activities
- Respiratory support, including assisted ventilation and techniques to clear secretions
- Orthopedic interventions, such as braces or surgery, for scoliosis or joint contractures
- Nutritional support, sometimes requiring feeding tubes if swallowing difficulties are present
- Cardiac monitoring recommended for some CMD subtypes
- Medications, including corticosteroids, to slow progression and manage symptoms
Importance of Early Intervention
Early intervention is crucial to maximize quality of life and functional abilities in patients with CMD. A multidisciplinary approach to treatment, including genetic counseling, can help families navigate the complexities of the condition and make informed decisions about care. As noted in 2, advances in medical technology have not always been adopted in clinical practice, highlighting the need for ongoing education and research to improve outcomes for patients with CMD.