Mitochondrial myopathy affects the mitochondria — the tiny energy-producing structures that serve as “power plants of the cell.”
The term refers to a group of muscle disorders, including:
Some types of mitochondrial myopathy are inherited, while some are sporadic (the mutation only occurs in the affected person; it was not inherited and will not be passed onto children). These disorders are caused by a defect in either a mitochondrial gene or a gene in the cell nucleus that affects the functioning of the mitochondria.
Symptoms may include:
Treatment may include:
Some patients report minor improvement in symptoms when taking a supplement “cocktail” of Creatine, L-carnitine, and coenzyme Q10.
Mitochondrial myopathies section.
Hosts monthly teleconferences with a specialist regarding treatment options for specific symptoms and other concerns for people affected by mitochondrial myopathy.
Provides news and information about issues relating to mitochondrial disease research and clinical care. The UMDF also holds an annual international symposium that brings together physicians, researchers, patients and family members.