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.
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:
- 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).
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.
- Reviewer: EBSCO Medical Review Board Michael Woods, MD, FAAP
- Review Date: 09/2017 -
- Update Date: 08/24/2017 -