(Kearns-Sayre Syndrome; Leigh’s Syndrome; Mitochondrial DNA Depletion Syndrome; Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes; Myoclonic Epilepsy Associated With Ragged Red Fibers; Mitochondrial Neurogastrointestinal Encephalopathy; Neuropathy, Ataxia, and Retinitis Pigmentosa; Pearson’s Syndrome; Progressive External Ophthalmoplegia)
Pronounced: My–toe-con-dree-al My-op-a-thee
by Patricia Griffin Kellicker, BSN
Mitochondrial myopathies are a group of diseases. Each disease has different symptoms. Some may be mild while others are life threatening. However, the diseases are all caused by a problem with the mitochondria.
Mitochondria are tiny structures found in almost all cells. It is their job to provide energy to these cells. Mitochondrial myopathies can interfere with many different bodily functions. It tends to have the greatest impact on structures that are active, such as the muscles and nerves.
This condition is caused by a mutation in a specific gene.
Having a family member with the mutated gene increases the risk of mitochondrial myopathies.
Mitochondrial myopathies can cause a range of symptoms, but usually include muscle fatigue, weakness, and exercise intolerance. Symptoms by specific condition include:
Other general symptoms include:
You will be asked about your symptoms and medical history. A physical exam will be done. You will also be asked about any family history of the disease. An eye exam may also be done.
Your bodily fluids and tissues may be tested. This can be done with:
Your heart's electrical activity may be tested. This can be done with an electrocardiogram (EKG).
Your nerve function may be tested. This can be done with electromyography (EMG).
There is no specific treatment for these diseases. Instead, treatment will focus on managing the symptoms. Treatment options include the following:
Supplements may help make energy in the cells. These may include:
Therapy may be used to strengthen muscles and improve mobility. Some may need devices like braces, walkers, or wheelchairs to help get around.
Muscle weakness in the throat may make talking or swallowing difficult. Speech therapy may help strengthen the muscles or work around the weakness.
Respiratory therapy will help make sure breathing is normal. It may involve some training techniques for respiratory muscles. It can include pressurized air treatment or the use of a ventilator.
Medications may be needed for symptoms such as irregular heartbeat, seizures or pain.
There are no current guidelines to prevent mitochondrial myopathies. If you have a family history of the disorder, you can talk to a genetic counselor when deciding whether to have children.
Muscular Dystrophy Association
National Institute of Neurological Disorders and Stroke
Canadian Institutes of Health Research
Muscle Dystrophy Canada
DiMauro S. Pathogenesis and treatment of mitochondrial myopathies: recent advances. Acta Myol. 2010;29(2):333-338.
Mitochondrial myopathies. Muscular Dystrophy Association website. Available at: https://www.mda.org/disease/mitochondrial-myopathies. Accessed September 18, 2017.
Mitochondrial Myopathy. National Organization of Rare Disorders website. Available at: https://rarediseases.org/physician-guide/mitochondrial-myopathy/. Published 2008. Accessed August 24, 2017.
Mitochondrial Myopathy Fact Sheet. National Institute of Neurological Disorders and Stroke website. Available at:
...(Click grey area to select URL)
Accessed September 18, 2017.
Mitochondrial Myopathy. Online Mendelian Inheritance in Man website. Available at: https://www.omim.org/entry/251900?search=Mitochondrial%20Myopathy&highlight=myopathic%20mitochondrial%20myopathy. Updated May 11, 2010. Accessed August 24, 2017.
Last reviewed September 2018 by EBSCO Medical Review Board Michael Woods, MD, FAAP
Last Updated: 8/24/2017
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