What is mitochondrial myopathy?

Mitochondrial myopathy is an umbrella term used to indicate the family of conditions caused by disorders that include mitochondria. Mitochondria are organelles found in the cells of living beings. They are essentially a device for energy production in the cell and convert various compounds into ATP, chemicals that are used for energy and cellular signaling. When mitochondria does not work properly, there may be a number of serious health problems, as well as houses on the electric grid experience browouts when part of the energy production is closed. This is a common situation with mitochondrial diseases, because muscles need great energy, and when the powerhouse cells are closed or do not work, the muscles tend to suffer. Examples of mitochondrial myopathy include: myoclonus epilepsy with torn red fibers, Kearns-Sayre syndrome and mitochondrial encephalomyopathy with lactate acidosis and episodes similar to stroke.

These conditions are caused by genetic defects and mayvary in severity. Many children are diagnosed with mitochondrial myopathy under the age of five, although symptoms may also occur later in life. At present, there is no drug for these conditions, and the provision of care is focused on managing symptoms. Patients often participate in physical therapy and can use vitamin and mineral supplements along with certain drugs. Finally, gene therapy for target mitochondrial myopathy can be developed.

muscle weakness is a common symptom of mitochondrial myopathy. Patients can also develop strokes, seizures, blindness, falling lids, vomiting and difficulty in exercise or bypass. The heart is also commonly affected because the heart is only a large muscle and is therefore prone to disorders in mitochondria. Patients may be diagnosed with biopsy in which muscle fibers can be examined on signs of myopathy, and genetic testing can also be used.

prognóFor a patient with mitochondrial myopathy, it is generally not very good. Some patients die within one year due to the severity of their conditions, while others may survive for several years, even an active life. Support medical care is decisive in managing mitochondrial myopathies and many patients and their families also benefit from membership in organizations that focus on people with mitochondrial myopathies. These organizations can provide emotional support, advice that can help patients manage their states and information about ongoing medical studies and research that may be beneficial.