Mayo Clinic doctors trained in nervous system conditions (neurology) and other doctors diagnose people who have congenital myopathies.
To diagnose your condition, your doctor will review your medical and family history. Your doctor will conduct a physical and neurological examination to find the cause of your muscle weakness and rule out other conditions. Your doctor may conduct several tests to diagnose your congenital myopathy.
- Blood tests. Your doctor may order blood tests to test for an enzyme called creatine kinase.
- Electrocardiogram (ECG). An electrocardiogram may be conducted to observe your heart's electrical activity.
- Electromyography (EMG). Electromyography measures electrical activity within muscles.
- Genetic testing. Your doctor may recommend genetic testing to verify a particular mutation.
- Muscle biopsy. A specialist may remove a small sample of tissue (biopsy) from a muscle to test.
Read more about electrocardiogram, electromyography and genetic testing at MayoClinic.com.