Research on mitochondrial myopathies, a neuromuscular diseases, is increasing by the National Institute of Neurological Disorders and Stroke (NINDS) to increase scientific understanding of the disorder and to find ways to effectively treat, prevent, or potentially cure them.
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.
Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.
Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine (a specialized amino acid) may provide subjective improvement in fatigue and energy levels in some patients.
The prognosis for patients with mitochondrial myopathies varies greatly, depending largely on the type of disease and the degree of involvement of various organs. These disorders cause progressive weakness and can lead to death.