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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.


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