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.

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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
  • Heart arryhthmias 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:

  • Muscle biopsy
  • Blood tests
  • Lumbar puncture—to evaluate the cerebrospinal fluid that protects the brain and spinal cord

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).

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:

Your doctor will work with you on the proper 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 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.