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NINDS Kearns-Sayre Syndrome Information Page


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What is Kearns-Sayre Syndrome?

Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. 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?

There is currently no effective way to treat mitochondria abnormalities in KSS.  Treatment is generally symptomatic and supportive.  Management of KSS involves multiple specialties depending on the organs involved.  The most essential is a regular and long-term follow-up with cardiologists.  Conduction problems of heart impulse like heart block may be treated with a pacemaker.  Other consultations may include audiology, ophthalmology, endocrinology, neurology, and neuropsychiatry.  Hearing aids may be required.  There is typically no treatment for limitation in eye movement.  Endocrinology abnormalities can be treated with drugs.

What is the prognosis?

KSS is a slowly progressive disorder.  The prognosis for individuals with KSS varies depending on the severity and the number of organs involved.  Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can cause death in 20 percent of patients.  Early pacemaker implantation can be of great benefit and offer a longer life expectancy in many patients.

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.  The most promising approach for treatment in the future will be to alter replication or destroy abnormal mitochondria.

NIH Patient Recruitment for Kearns-Sayre Syndrome Clinical Trials

Organizations

Column1 Column2
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

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

 


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 June 4, 2012