In order to diagnose whether or not you or your child has mitochondrial disease, sometimes health care providers must do tests on a tissue that has many mitochondria located in it. Such a tissue is muscle.
About Muscle Biopsy Testing – A small piece of muscle, usually the size of the end of our little finger is removed from the upper thigh of a patient for this testing. (The removal of this small piece of tissue does not cause permanent damage to the patient but does leave a scar several inches long.)
The testing completed on this muscle tells us whether or not a certain person can produce enough energy to function normally or whether or not he/she has a problem making too little energy. The testing is complicated and takes many weeks to complete.
Test Results – If the testing indicates that a given patient does indeed have a mitochondrial disorder, that person is then screened every year for many associated problems found with these diseases (such as diabetes and thyroid disease). This helps us prevent many of the treatable complications of these disorders.
Treatment of mitochondrial disorders is centered around vitamin, supplement and co-factor therapy which improves mitochondrial function, and helps reduce symptoms in many patients. Nutrition, hydration, and energy conservation are also critically important!
More Frequently Asked Questions About Testing for Mitochondrial Disorders, by Fran Kendall, M.D.
A muscle biopsy is an invasive and costly procedure. Requiring a muscle biopsy to determine if a mitochondrial or other metabolic muscle disease is the cause of your problems can be a hectic, frustrating, and stressful time often without a sense of control. We wish to change that.
We believe information empowers patients; it is our hope this document will encourage you to ask questions of your healthcare providers so you can determine if a biopsy is appropriate to your situation, what you can typically expect, and its utility to your situation.
The field of mitochondrial medicine is rapidly changing and new innovative mitochondrial testing currently under development may make biopsies obsolete. This new DNA-based testing may be available within the next 12 months.
We are strictly a clinical practice with no laboratory affiliation or financial/research incentive in the tests we order. The following information is strictly the opinion of Virtual Medical Practice, LLC, and is not meant to be the single resource for information about muscle biopsies for mitochondrial and metabolic disorders. This document is a compilation of ideas and thoughts from a number of resources, including patients, guardians, and patient advocacy groups.
We are grateful for the input and suggestions of those who freely gave of their time and effort. I also wish to acknowledge the courage and grace that my patients exhibit and how they are an inspiration to us. I hope this document in some small way reaches out to those who need that courage and grace the most.
Fran Kendall, M.D.
Medical Genetics, CEO