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Articles » NINDS Mitochondrial Myopathies Information Page: NINDS

NINDS Mitochondrial Myopathies Information Page: NINDS

Article title: NINDS Mitochondrial Myopathies Information Page: NINDS

Main condition: Mitochondrial myopathies

Conditions: Mitochondrial myopathies

What is Mitochondrial myopathies?
Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria - small, energy-producing structures found in every cell in the body 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 (MERRF), and mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS). The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, reduced ability of the eyes to move, vomiting, and seizures. The disorders range in severity from progressive weakness to death. The age of onset ranges from birth to adulthood, with the majority of cases occurring before the age of 20. Exercise intolerance or muscle weakness usually develops by the age of 20. During physical activity, muscles may become easily fatigued or weak. Muscle cramping may rarely occur. Nausea, headache, and breathlessness are also sometimes associated with mitochondrial myopathies.

Is there any treatment?
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, vitamins C and K, and carnitine (a specialized amino acid) may improve function in some patients.

What is the prognosis?
: The prognosis for patients with mitochondrial myopathies varies greatly from patient to patient because disease progression depends largely on the type of disease and the degree of involvement of various organs.

What research is being done?
The NINDS conducts and supports research on mitochondrial myopathies. The goals of this research are to increase scientific understanding of these disorders and ultimately to find ways to prevent and cure them.


Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
Tel: 520-529-2000 800-572-1717
Fax: 520-529-5300

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

United Mitochondrial Disease Foundation
P.O. Box 1151
Monroeville, PA 15146-1151
Tel: 412-793-8077
Fax: 412-793-6477

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892


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