Mitochondrial Diseases

How are mitochondrial diseases diagnosed?

There is no easy test that can be used to diagnose mito. The diagnosis is made based on a combination of the following:

• A full clinical evaluation with blood and urine tests looking for features suggestive of mito
• DNA tests, which are often required
• Muscle/liver/tissue biopsies, which may occasionally be needed

Coming up with a diagnosis can be difficult because many symptoms of mito can mimic that of other diseases. Clinical and blood tests may also be inconclusive and difficult to interpret. However, our understanding of mito has been growing with time.