• Mitochondrial Myopathy

    (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)


    Mitochondrial myopathies are a group of diseases. Each disease has different symptoms. Some may be mild while other 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 very active such as the muscles and nerves.
    Muscular and Nervous Systems
    Torso muscle and nerves
    Mitochondrial myopathies decrease the ability of nerves and muscles. Weakness and uncoordinated movement may result.
    Copyright © Nucleus Medical Media, Inc.


    This condition is caused by a mutation in a specific gene.

    Risk Factors

    Having a family member with the mutated gene increases the risk of mitochondrial myopathies.


    Mitochondrial myopathies can cause a range of symptoms. Symptoms by specific condition include:
    Kearns-Sayre syndrome (KSS) Before age 20 Salt and pepper pigmentation in eye, eye movement problems (PEO), heart and skeletal muscle dysfunction
    Leigh’s syndrome Infancy (can appear later) Brain abnormalities that lead to muscle problems, seizures, uncoordinated muscle movement (ataxia), impaired vision and hearing, developmental delay and poor control over breathing
    Mitochondrial DNA depletion syndrome Infancy Muscle weakness and liver failure, floppiness, feeding difficulties, and developmental delay
    Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) Childhood to adulthood Stroke-like episodes, migraine headaches, vomiting and seizures, muscle weakness, exercise intolerance, hearing loss, diabetes, short stature
    Myoclonic epilepsy associated with ragged red fibers (MERRF) Late childhood to adulthood Myoclonus (jerky movements), seizures, muscle weakness, uncoordinated muscle movement (ataxia)
    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Before age 20 Eye movement problems (PEO), drooping eyelid, limb weakness, digestive problems, peripheral neuropathy
    Neuropathy, ataxia, and retinitis pigmentosa (NARP) Early childhood to adulthood Uncoordinated muscle movement (ataxia), degeneration of the retina in the eye leading to loss of vision
    Pearson’s syndrome Infancy Causes severe anemia and pancreas problems, survivors usually develop KSS
    Progressive external ophthalmoplegia (PEO) Adulthood Eye movement difficulty, and often symptoms of other mitochondrial diseases, but can be an independent syndrome
    Other general symptoms include:
    • Muscle weakness or exercise intolerance
    • Lack of balance or coordination
    • Arryhthmias of the heart or heart failure
    • Problems with eye movements—either problems with control or inability to move them
    • Seizures
    • Stroke-like episodes
    • Vomiting
    • Dementia


    Your doctor will ask about your symptoms and medical history. A physical exam will be done. You will also be asked about any family history of the disease.
    Tests may include the following:
    • Muscle biopsy—to look for abnormal levels of mitochondria
    • Blood test—to look for abnormal levels of certain enzymes and other substances
    • Lumbar puncture (spinal tap) —to evaluate the fluid surrounding the brain and spinal cord
    • Electromyography (EMG) and nerve conduction velocity (NCV)—to test nerve and muscle interaction
    • Genetic test
    • Eye exam


    There is no specific treatment for these diseases. Instead, treatment will focus on managing the symptoms. Treatment options include the following:

    Dietary Supplements

    Supplements may help make energy in the cells. These may include:
    Work with your doctor on the doses of these supplements.

    Physical Therapy

    Therapy may be used to strengthen muscles and improve mobility. Some may need devices like braces, walkers , or wheelchairs to help them get around.

    Speech Therapy

    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

    Respiratory therapy will help make sure you are breathing properly. It may involve some training techniques for respiratory muscles. It can include pressurized air treatment or the use of a ventilator.


    Medicines may be needed for symptoms such as seizures or pain.


    There are no known guidelines to prevent this condition.


    Muscular Dystrophy Association http://www.mda.org/

    National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/


    Canadian Institute of Health Research http://www.cihr-irsc.gc.ca/

    Muscle Dystrophy Canada http://www.muscle.ca/


    Bradley WG, Daroff RB, Fenichel GM, Jankovic J, eds. Neurology in Clinical Practice . 5th ed. Philadelphia, PA: Butterworth Heniemann Elsevier; 2008.

    DiMauro S. Pathogenesis and treatment of mitochondrial myopathies: recent advances. Acta Myol. 2010;29(2):333-338.

    Facts about mitochondrial myopathies. Muscular Dystrophy Association website. Available at: http://www.mda.org/publications/mitochondrial%5Fmyopathies.html . Accessed December 27, 2012.

    Fauci A, Harrison TR. Harrison's Principles of Internal Medicine . 17th ed. New York, NY: McGraw-Hill; 2008.

    Jacobs L, Wert GD, Geraedts J, de Coo I, Smeets H. The transmission of OXPHOS disease and methods to prevent this. Hum Reprod Update . 2006;12(2):119-136.

    Metabolic myopathies. American College of Rheumatology website. Available at: http://www.rheumatology.org/public/factsheets/diseases%5Fand%5Fconditions/metabolicmyopathies.asp?aud=pat . Accessed December 27, 2012.

    Mitochondrial myopathies. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated November 7, 2012. Accessed December 27, 2012.

    Mitochondrial myopathy. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/mitochondrial%5Fmyopathy/mitochondrial%5Fmyopathy.htm . Accessed December 27, 2012.

    Revision Information

    • Reviewer: Mike Woods, MD
    • Review Date: 12/2012
    • Update Date: 12/27/2012

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