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NINDS Mitochondrial Myopathies Information Page


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What is Mitochondrial Myopathies?

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. 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, limited mobility of the eyes, vomiting, and seizures. The prognosis for these disorders ranges in severity from progressive weakness to death. Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders.

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, and carnitine (a specialized amino acid) may provide subjective improvement in fatigue and energy levels in some patients.

What is the prognosis?

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.

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 to find ways to effectively treat, prevent, or potentially cure them.

NIH Patient Recruitment for Mitochondrial Myopathies Clinical Trials

Organizations

Column1 Column2
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ   85718-3208
mda@mdausa.org
http://www.mda.org
Tel: 520-529-2000 800-572-1717
Fax: 520-529-5300

United Mitochondrial Disease Foundation
8085 Saltsburg Road
Suite 201
Pittsburgh, PA   15239
info@umdf.org
http://www.umdf.org
Tel: 412-793-8077 888-317-UMDF (8633)
Fax: 412-793-6477

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

MitoAction
14 Pembroke Street
Medford, MA   02155
info@mitoaction.org
http://www.mitoaction.org
Tel: 1-888-648-6228



Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated December 16, 2011