NINDS Kearns-Sayre Syndrome Information Page

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Kearns-Sayre Syndrome

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Table of Contents (click to jump to sections)
What is Kearns-Sayre Syndrome?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations

What is Kearns-Sayre Syndrome?
Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS.

Is there any treatment?

Treatment for KSS is generally symptomatic and supportive. Cardiac abnormalities may be treated with various cardiac drugs or a pacemaker.

What is the prognosis?

The prognosis for individuals with KSS varies depending on the severity of symptoms. KSS is a slowly progressive disorder.

What research is being done?

The NINDS supports research on neuromuscular disorders such as KSS. The goals of this research are to increase understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them.

Select this link to view a list of studies currently seeking patients.

Organizations

National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291	Muscular Dystrophy Association 3300 East Sunrise Drive Tucson, AZ 85718-3208 mda@mdausa.org http://www.mda.org Tel: 520-529-2000 800-344-4863 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 Fax: 412-793-6477

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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.

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Last updated February 13, 2007