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Since there is a wide range of clinical symptoms caused by mitochondrial dysfunction, no one of which is specific for any known mitochondrial disease, the diagnosis of a mitochondrial disease can be a challenge. Genetic testing can sometimes identify a change in a person’s DNA that can be used to confirm the diagnosis of a mitochondrial disease. In many (or most) cases, however, a mitochondrial disorder may be suspected, but cannot be definitely confirmed by testing.

Some tests that may be done to determine the likelihood of a mitochondrial condition include:

  • Blood tests
  • Urine tests
  • Muscle biopsy (a small piece of the muscle is removed and examined under a microscope)
  • Brain MRI (pictures of the brain)
  • EEG (test to evaluate for seizures)
  • EKG and echocardiogram (tests to check for heart problems)
  • Audiology evaluation (for problems with hearing)
  • Ophthalmology examination (to evaluate vision)
  • Obtaining a pedigree (collecting the patient’s medical and family history)
  • Genetic testing (on a blood sample and/or muscle biopsy)

Testing is usually individualized for each patient, and is often focused on the specific set of symptoms and body regions involved. Once testing is complete, however, a specific diagnosis of a mitochondrial disease may still not be possible. Although this can be frustrating for the patient and family, the systematic and broad-based work-up outlined above will identify the known mitochondrial diseases, and will eliminate from consideration many conditions that can confuse the diagnosis and interfere with proper treatment.

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