What are mitochondrial myopathies?
Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures that serve as the cells’ “power plants.” Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs.
How does mitochondrial encephalomyopathy affect the eyes?
In addition to affecting eye muscles, a mitochondrial encephalomyopathy can affect the eye itself and parts of the brain involved in vision.
How is mitochondrial myopathy (methotoxicity) diagnosed?
History and physical examination are crucial for recognizing that mitochondrial myopathy is a potential diagnosis but also to suggest the most appropriate diagnostic studies. The diagnostic investigations include histological and immunohistochemical studies, enzymatic analysis of the OXPHOS complexes, and the genetic analysis of the mtDNA.
What are the treatment options for mitochondrial encephalomyopathy?
People with ataxia are prone to falls, and may need to use supportive aids such as railings, a walker, or a wheelchair. Physical and occupational therapy also may help. Other common symptoms of mitochondrial encephalomyopathy include migraine headaches and seizures.
What are the causes of mitochondrial genetic disorders?
[1] [2] Mitochondrial genetic disorders can be caused by changes ( mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Can muscle cramps be caused by a mitochondrial disease?
Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders. Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures that serve as the cells’ “power plants.”.
What tests are used to diagnose mitochondrial disease?
One of the most important tests for mitochondrial disease is the muscle biopsy, which involves removing and examining a small sample of muscle tissue. When treated with a dye that stains mitochondria red, muscles affected by mitochondrial disease often show ragged red fibers—muscle cells (fibers)…