How is congenital myopathy diagnosed?

How is congenital myopathy diagnosed?

Your child’s healthcare provider at birth, generally a neonatologist or pediatrician, will perform a physical exam to diagnose congenital myopathy. They may request several tests to confirm the diagnosis and will refer you to a neurologist and perhaps a geneticist. These tests include:

• Blood test: A blood test can check for increased levels of a muscle enzyme called creatine kinase.
• Electromyogram (EMG): An EMG can measure the electrical activity of your child’s muscles.
• Muscle biopsy: A muscle biopsy can look at cell changes in your child’s muscles.
• Genetic testing: Genetic testing can look for changes in the genes that cause myopathy.