Advertisement

Why are muscle biopsies needed for diagnosing mitochondrial diseases?

In a muscle biopsy, small samples of muscle are removed and either tested immediately or frozen and sent to another laboratory for testing. Not all labs can do the testing from a muscle biopsy. A muscle biopsy is considered a very strong method of diagnosis because it can examine the mitochondria of the muscle cells, but these biopsies are not always perfect. Because of the nature of the test and its expense and also because the results from the biopsy won't alter the prognosis, many doctors and patients choose to forego them.

Continue Learning about Genetic Disorders

Know Your Risk: Hereditary Angioedema
Know Your Risk: Hereditary Angioedema
Hereditary angioedema, also called HAE, is a rare genetic disorder that causes attacks of severe swelling. These attacks can occur anywhere in the bod...
Read More
What You Need to Know About Hereditary Angioedema
What You Need to Know About Hereditary Angioedema
Hereditary angioedema, abbreviated as HAE, is a disorder where people experience recurring episodes of severe swelling. This swelling can occur throug...
Read More
When does mitochondrial disease appear?
Foundation for Mitochondrial Medicine (FMM)Foundation for Mitochondrial Medicine (FMM)
Mitochondrial disease can appear at any age. For some it appears at birth. For others it develops ov...
More Answers
What are the effects of Gilbert's syndrome?
William B. Salt II., MDWilliam B. Salt II., MD
None, except it can result in stress and anxiety, unneeded testing, and is associated with medicatio...
More Answers

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.