Congenital Muscular Dystrophy (CMD)
What is congenital muscular dystrophy?
Congenital muscular dystrophy (CMD) is an umbrella term for a group of muscular dystrophies that are apparent at birth. There are at least 30 types of CMD.
What are the symptoms of congenital muscular dystrophy?
The major symptom of CMD is progressive muscle weakness. Other symptoms include:
- Respiratory issues
- Spinal curvature
- Eye defects
- Learning defects
- Joint looseness or stiffness
What causes congenital muscular dystrophy?
Genetic mutations are responsible for CMD, although different genes cause each type. The similarity is that they all affect proteins that the muscles need to develop. Some also affect the proteins needed for the brain and eyes.
How is congenital muscular dystrophy diagnosed?
Doctors will perform a clinical exam, evaluate patient history, identify characteristic symptoms, and perform a number of tests. These include muscle biopsies, electromyographies, blood tests, MRIs, genetic testing, and immunohistochemistry tests.
What are the treatments for congenital muscular dystrophy?
There is no cure for CMD; treatment is symptomatic. Physical, occupational, and speech therapy are typically a part of treatment. Devices like walkers may be used as well, and doctors may recommend surgery and monitoring other body systems.