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.
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:
Other general symptoms include:
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:
Supplements may help make energy in the cells. These may include:
Work with your doctor on the doses of these supplements.
Therapy may be used to strengthen muscles and improve mobility. Some may need devices like braces, walkers , or wheelchairs to help them 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 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.
- Reviewer: Mike Woods, MD
- Review Date: 12/2012 -
- Update Date: 12/27/2012 -