Mitochondrial myopathy
Mitochondrial Myopathy
Mitochondrial myopathy (/maɪtoʊkɒndriːəl maɪˈɒpəθi/) is a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures that serve as the cells' "power plants."
Etymology
The term "mitochondrial myopathy" is derived from the Greek words "mitos" (thread) and "chondrion" (granule) for mitochondria, and "myo" (muscle) and "pathos" (suffering) for myopathy.
Definition
Mitochondrial myopathies are a type of myopathy associated with mitochondrial disease. They are the result of genetic mutations, often inherited, that lead to poorly functioning or non-functioning mitochondria.
Symptoms
Symptoms of mitochondrial myopathy can include muscle weakness, exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures.
Diagnosis
Diagnosis of mitochondrial myopathy often involves a muscle biopsy, which reveals ragged red fibers when stained and viewed under a microscope. Genetic testing can also be used to identify the specific mutation causing the disease.
Treatment
There is currently no cure for mitochondrial myopathies. Treatment is symptomatic and supportive, and may include physical therapy, respiratory therapy, and the use of mobility aids.
Related Terms
External links
- Medical encyclopedia article on Mitochondrial myopathy
- Wikipedia's article - Mitochondrial myopathy
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