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Mitochondrial Myopathy
Mitochondria are tiny structures found in almost all cells. They provide energy. Mitochondrial myopathies are a group of diseases that are caused by problems ...
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Definition
Mitochondria are tiny structures found in almost all cells. They provide energy. Mitochondrial myopathies are a group of diseases that are caused by problems in the mitochondria. The diseases affect the nerves and muscles, among other systems. The severity of these diseases can vary greatly. Some produce mild symptoms and others are life-threatening conditions. Mitochondrial myopathies 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 If you suspect you have this condition, contact your doctor.
Muscular and Nervous Systems
Mitochondrial myopathies decrease the ability of nerves and muscles. Weakness and uncoordinated movement may result.© 2011 Nucleus Medical Media, Inc. -
Causes
This condition is caused by a gene mutation.
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Risk
Having a family member with the mutated gene is a risk factor.
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Symptoms
Mitochondrial myopathies can cause a range of symptoms. Some people experience very few symptoms. Others may experience the full range. If you have any of these symptoms, do not assume it is due to mitochondrial myopathy. These symptoms may be caused by other conditions.
Tell your doctor if you have any of these:
- diagnosis
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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.
Tests may include the following:
- Muscle biopsy —test that involves removing a small piece of muscle to look for abnormal levels of mitochondria or the presence of certain proteins and enzymes
- Blood test—a blood test that looks 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 evaluate how well signals are conducted through the nerves and to evaluate the activity of the muscles
- Genetic test—a blood test or muscle biopsy that tests for the presence of genetic mutations
- Eye exam by an ophthalmologist
- treatment
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Treatment
Talk with your doctor about the best plan for you. There is no specific treatment for these diseases. Symptoms can be treated. Treatment options include the following:
Dietary SupplementsSupplements may help make energy in the cells. These may include:
- Creatine
- Carnitine
- Coenzyme Q10
Physical TherapyTherapy may be used to strengthen muscles and improve mobility. Some people may need devices like braces, walkers , or wheelchairs .
Speech TherapyMuscle weakness in the throat may require speech therapy.
Respiratory TherapyIn some cases, this therapy may be needed. It can include pressurized air treatment or the use of a ventilator.
MedicationsMedicines are used to treat specific symptoms, such as seizures and pain.
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Prevention
There are no known guidelines to prevent this condition.
