Kearns Sayre Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Kearns Sayre Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Chronic Progressive External Ophthalmoplegia and Myopathy
  • CPEO with Myopathy
  • CPEO with Ragged-Red Fibers
  • KSS
  • Mitochondrial Cytopathy, Kearn-Sayre Type
  • Oculocraniosomatic Syndrome (obsolete)
  • Ophthalmoplegia, Pigmentary Degeneration of the Retina and Cadiomyopathy
  • Kearns-Sayre Disease
  • Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers
  • Ophthalmoplegia Plus Syndrome

Disorder Subdivisions

  • None

General Discussion

Kearns-Sayre Syndrome is a rare neuromuscular disorder characterized by three primary findings: progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia [CPEO]); abnormal accumulation of colored (pigmented) material on the nerve-rich membrane lining the eyes (atypical retinitis pigmentosa), leading to chronic inflammation, progressive degeneration, and wearing away of certain eye structures (pigmentary degeneration of the retina); and heart disease (cardiomyopathy) such as heart block. Other findings may include muscle weakness, short stature, hearing loss, and/or the loss of ability to coordinate voluntary movements (ataxia) due to problems affecting part of the brain (cerebellum). In some cases, Kearns-Sayre Syndrome may be associated with other disorders and/or conditions.

Kearns-Sayre Syndrome belongs (in part) to a group of rare neuromuscular disorders known as mitochondrial encephalomyopathies. Mitochondrial encephalomyopathies are disorders in which a defect in genetic material arises from a part of the cell structure that releases energy (mitochondria), causing the brain and muscles to function improperly (encephalomyopathies). In these disorders, abnormally high numbers of defective mitochondria are present. In approximately 80 percent of cases of Kearns-Sayre Syndrome, tests will reveal missing genetic material (deletion) involving the unique DNA in mitochondria (mtDNA).

Resources

National Association for Visually Handicapped
22 West 21st Street
New York, NY 10010
USA
Tel: (212)889-3141
Fax: (212)727-2931
Email: staff@navh.org
Internet: http://www.navh.org

Foundation Fighting Blindness
11435 Cronhill Drive
Owings Mills, MD 21117-2220
Tel: (410)568-0150
Fax: (410)363-2393
Tel: (800)683-5555
TDD: (800)683-5551
Email: info@blindness.org
Internet: http://www.fightblindness.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

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

American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.americanheart.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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