Kearns-Sayre Syndrome
Information Page |
NINDS is part of the
National Institutes of
Health
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?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
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 |
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 February 13, 2007