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Mitochondrial myopathy is a group of conditions caused by mitochondrial disorders that affect the muscles due to the lack of energy. Symptoms include muscle weakness, strokes, seizures, and heart problems. There is no cure, but supportive care can help manage symptoms. Gene therapy may be a future treatment.
Mitochondrial myopathy is an umbrella term used to refer to a family of conditions caused by disorders involving the mitochondria. Mitochondria are organelles found within the cells of living things. They are essentially the cell’s energy-generating facilities, converting various compounds into ATP, a chemical used for energy and cell signaling. When mitochondria malfunction, a variety of serious health problems can occur, much like homes on a power grid experience a brownout when part of a power plant goes out.
In the case of mitochondrial myopathies, mitochondria malfunction leads to muscle problems. This is a common situation with mitochondrial disease, because muscles need a large amount of energy, and when the cells’ power plants are shut down or malfunctioning, muscles tend to suffer. Some examples of mitochondrial myopathy include: myoclonic epilepsy with ragged red fibers, Kearns-Sayre syndrome, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).
These conditions are caused by genetic defects and can vary in severity. Many children are diagnosed with mitochondrial myopathy under the age of five, although symptoms can also appear later in life. There is currently no cure for these conditions, with care delivery focused on symptom management. Patients often attend physical therapy and may take vitamin and mineral supplements along with certain medications. Eventually, gene therapy could be developed to target mitochondrial myopathy.
Muscle weakness is a common symptom of mitochondrial myopathy. Patients may also develop strokes, seizures, blindness, droopy eyelids, vomiting, and difficulty exercising or moving around. The heart is also commonly affected, as the heart is just one big muscle and is therefore susceptible to tears in the mitochondria. Patients can be diagnosed with a biopsy, in which muscle fibers can be examined for signs of myopathy, and genetic testing can also be used.
The prognosis for a patient with a mitochondrial myopathy is generally not very good. Some patients die within a year due to the severity of their condition, while others can survive for several years, even living active lives. Supportive medical care is vital in the management of mitochondrial myopathies, and many patients and their families also benefit from memberships in organizations that focus on people with mitochondrial myopathies. These organizations can provide emotional support, advice that can help patients manage their conditions, and information about ongoing medical studies and research that may be helpful.
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