Treatment

Congenital myopathies can't be cured, but doctors can help you manage the condition and symptoms. Treatment may include several options.

• Genetic counseling. Genetic counselors may help you understand the genetics of the condition.
• Medications. Medications may help treat symptoms of some myopathies. For example, the drug albuterol (Proair HFA, Ventolin HFA, others) may be helpful in some congenital myopathies.
• Nutritional and respiratory support. Nutritional or respiratory support may be needed as the condition progresses.
• Orthopedic treatments. Orthopedic support devices or other treatments, such as surgery to correct or improve scoliosis or contractures, may be helpful.
• Physical, occupational or speech therapy. Physical, occupational or speech therapy may help manage symptoms. Low-impact aerobic exercise, such as walking and swimming, can help maintain strength, mobility and general health. Some types of strengthening exercises also might be helpful.
• Respiratory therapy. Some patients need respiratory support or respiratory treatments.

In addition to these treatments, some people with congenital myopathies may benefit from an evaluation from an endocrinologist. An endocrinologist can monitor bone health, as bone diseases such as osteopenia and osteoporosis may develop in some people with congenital myopathies.

It's also important to take precautions to prevent respiratory infections. Annual influenza vaccinations and regular pneumonia vaccinations are recommended. Try to avoid contact with anyone who has an obvious respiratory infection.