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.
This condition is caused by a mutation in a specific gene.
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 Mitochondrial myopathies decrease the ability of nerves and muscles. Weakness and uncoordinated movement may result. Copyright © Nucleus Medical Media, Inc.
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:
- Blood tests
- Lumbar puncture—also known as a spinal tap
Your heart activity may be tested. This can be done with an electrocardiogram.
Your nerve function may be tested. This can be done with
There are no known guidelines to prevent this condition.
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:
NAME OF CONDITION AGE OF ONSET DEFINING SYMPTOMS 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
- Problems with eye movements—either problems with control or inability to move them
- Stroke-like episodes
- Cognitive or learning deficits
There is no specific treatment for these diseases. Instead, treatment will focus on managing the symptoms. Treatment options include the following: