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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)

Pronounced: My–toe-con-dree-al My-op-a-thee

Definition

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.

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.

Causes

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.

Symptoms

Mitochondrial myopathies can cause a range of symptoms. Symptoms by specific condition include:

NAME OF CONDITIONAGE OF ONSETDEFINING SYMPTOMS
Kearns-Sayre syndrome (KSS)Before age 20Salt and pepper pigmentation in eye, eye movement problems (PEO), heart and skeletal muscle dysfunction
Leigh’s syndromeInfancy—can appear laterBrain 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 syndromeInfancyMuscle weakness and liver failure, floppiness, feeding difficulties, and developmental delay
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)Childhood to adulthoodStroke-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 adulthoodMyoclonus (jerky movements), seizures, muscle weakness, uncoordinated muscle movement (ataxia)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Before age 20Eye movement problems (PEO), drooping eyelid, limb weakness, digestive problems, peripheral neuropathy
Neuropathy, ataxia, and retinitis pigmentosa (NARP)Early childhood to adulthoodUncoordinated muscle movement (ataxia), degeneration of the retina in the eye leading to loss of vision
Pearson’s syndromeInfancyCauses severe anemia and pancreas problems, survivors usually develop KSS
Progressive external ophthalmoplegia (PEO)AdulthoodEye 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
  • Cognitive or learning deficits
  • Dementia
Diagnosis

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. An eye exam may also be done.

Your bodily fluids and tissues may be tested. This can be done with:

Your heart activity may be tested. This can be done with an electrocardiogram.

Your nerve function may be tested. This can be done with electromyography (EMG).

Treatment

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.

Medications

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

Prevention

There are no known guidelines to prevent this condition.

RESOURCES:

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

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

CANADIAN RESOURCES:

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

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

References:

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_myopathies.html. Published December 2009. Accessed August 13, 2013.

Jacobs L, Wert GD, et al. The transmission of OXPHOS disease and methods to prevent this. Hum Reprod Update. 2006;12(2):119-136.

Mitochondrial myopathies. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php. Updated November 7, 2012. Accessed August 13, 2013.

NINDS mitochondrial myopathies page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm. Updated December 16, 2011. Accessed August 13, 2013.



Last reviewed August 2013 by Michael Woods, MD

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.

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