$Unique_ID{BRK03895} $Pretitle{} $Title{Kearns-Sayre Syndrome} $Subject{Kearns-Sayre Syndrome Heart block-Retinitis Pigmentosa-Ophthalmoplegia Retinitis Pigmentosa (RP) Ophthalmoplegia Cardiac Arrhythmias } $Volume{} $Log{} Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 367: Kearns-Sayre Syndrome ** IMPORTANT ** It is possible the main title of the article (Kearns-Sayre Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Heart block-Retinitis Pigmentosa-Ophthalmoplegia Information on the following diseases can be found in the Related Disorders section of this report: Retinitis Pigmentosa (RP) Ophthalmoplegia Cardiac Arrhythmias General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Kearns-Sayre Syndrome is a rare muscular disorder characterized by paralysis of the eye, face and mouth muscles in combination with vision and hearing deficits. The heart muscle is always involved and in some patients brain function can be affected. Symptoms Kearns-Sayre Syndrome affects muscle cells in several areas of the body. Cell structures (mitochondria) which release energy in muscles become impaired. The heart is a muscle which also can be affected. The wall of the heart becomes inflamed, occasionally leading to irregular heartbeats. The heart may become enlarged. Slowly progressive paralysis of the muscles controlling the eyes (ophthalmoplegia) can occur. Weakness of facial and mouth muscles, the eyelids (causing lid drooping) and muscles of the arms or legs are also symptomatic of this disorder. Reduced brain function and retinal degeneration causing impaired vision can also occur in patients with Kearns-Sayre Syndrome. Causes The exact cause of Kearns-Sayre Syndrome is unknown. The change in cell structure (mitochondria) which affects eye, facial and heart muscles is under investigation. However, the significance and nature of the modified cells is not yet understood. Affected Population Males and females may be affected in equal numbers with Kearns-Sayre Syndrome. This disorder usually begins before twenty years of age. Related Disorders Retinitis Pigmentosa (RP) is one of a group of inherited vision disorders causing degeneration of the retina. When the retina degenerates, vision decreases and may be lost. Retinitis Pigmentosa may be associated with other symptoms such as deafness (i.e., Usher Syndrome), central nervous system disorders, metabolic disorders and other hereditary conditions such as Turner's Syndrome. (For more information, choose "RP" and "Turner" as your search terms in the Rare Disease Database). Ophthalmoplegia is defined as paralysis of the external muscles of the eye. This symptom can occur in conjunction with Kearns-Sayre Syndrome as well as other disorders. Ophthalmoplegia may be caused by neurological or muscle lesions. Cardiac Arrhythmias are a variation of normal heart beat patterns. Any heart beat abnormality should receive prompt medical attention to avoid serious complications, but some arrhythmias may be benign such as those caused by caffeine or nicotine. Therapies: Standard A pacemaker and/or various anti-arrhythmic drugs can be useful in treating heart beat irregularities caused by Kearns-Sayre Syndrome. Other treatment is symptomatic and supportive. Therapies: Investigational Coenzyme Q10 is being investigated as a treatment for Kearns-Sayre Syndrome. This compound appears to improve release of energy by muscle mitochondria in preliminary tests. Heart, vision and neurologic symptoms may also improve with this therapy. More research on Coenzyme Q10 is needed to determine its long-term safety and effectiveness. This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Kearns-Sayre Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 RP Foundation Fighting Blindness 1401 Mt. Royal Avenue, 4th Floor Baltimore, MD 21217 (800) 638-2300 (301) 225-9400 TDD (301) 225-9409 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD (301) 496-5248 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References HEART INVOLVEMENT IN PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (KEARNS-SAYRE SYNDROME): ELECTROPHYSIOLOGIC, HEMODYNAMIC AND MORPHOLOGIC FINDINGS.: B. Schwartzkopff, et. al.; Z Kardiol (March 1986, issue 75(3)). Pp. 161-169. TREATMENT OF KEARNS-SAYRE SYNDROME WITH COENZYME Q10: S. Ogasahara, et. al.; Neurology (January 1986, issue 36(1)). Pp. 45-53. THE FINE STRUCTURE OF THE INTRAMITOCHONDRIAL CRYSTALLOIDS IN MITOCHONDRIAL MYOPATHY: T.M. Mukherjee, et. al.; J Submicrosc Cytol (July 1986, issue 18(3)). Pp. 595-604.