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Genetic and Rare Diseases Information Center (GARD)

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Kearns Sayre syndrome


Other Names for this Disease

  • Chronic progressive external ophthalmoplegia with myopathy
  • CPEO with myopathy
  • CPEO with ragged red fibers
  • KSS
  • Mitochondrial cytopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I know a young man in Brazil who has Kearn-Sayre syndrome. Could you provide me with information about this condition? Are there treatment centers that specialize in treating individuals with Kearns-Sayre syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Kearns-Sayre syndrome?

Kearns-Sayre syndrome (KSS) is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy (a "salt-and-pepper" pigmentation in the retina that can affect vision, but often leaves it intact), and progressive external ophthalmoplegia (PEO).[1][2][3] In addition, affected individuals have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia. Kearns-Sayre syndrome is a mitochondrial DNA (mtDNA) deletion syndrome.[1] It results from 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. This and other mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body, resulting in multisystem effects. Treatment for this slowly progressive disorder is generally symptomatic and supportive.[2]



Last updated: 1/13/2009

What symptoms are associated with Kearns-Sayre syndrome?

Kearns-Sayre syndrome is characterized by progressive external ophthalmoplegia (PEO) and pigmentary retinopathy (a “salt-and-pepper” pigmentation in the retina that can affect vision, but often leaves it intact). These symptoms typically develop before 20 years of age.[1][3] At least one of the following must also be present: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia.[1]

Additional symptoms may include mild skeletal muscle weakness, short stature, hearing loss, impaired cognitive function, and diabetes mellitus. Seizures are infrequent. Several endocrine disorders can be associated with Kearns-Sayre syndrome, including delayed sexual maturation, hypothyroidism, and growth hormone deficiency.[1][2][3] 

Last updated: 1/13/2009

What causes Kearns-Sayre syndrome?

Kearns-Sayre syndrome occurs secondary to deletions in mitochondrial DNA (mtDNA) that cause a particular phenotype. In patients with Kearns-Sayre syndrome, mtDNA deletions occur, most of which are sporadic and are believed to occur as germ-cell mutations or very early in new embryo development.[4]
Last updated: 1/13/2009

How might Kearns-Sayre syndrome be treated?

Treatment for Kearns-Sayre syndrome is generally symptomatic and supportive.[2] Management options include placement of cardiac pacemakers in individuals with cardiac conduction blocks, eyelid slings for severe ptosis, cochlear implants and hearing aids for neurosensory hearing loss, hormone replacement for endocrinopathies, dilation of the upper esophageal sphincter to alleviate cricopharyngeal achalasia, folinic acid supplementation in individuals with Kearns-Sayre syndrome with low cerebral spinal fluid folic acid, administration of coenzyme Q10 and L-carnitine, physical and occupational therapy, and treatment of depression. Antioxidants may ameliorate damage from reactive oxygen species; percutaneous endoscopic gastrostomy may improve nutritional intake and prevent aspiration pneumonia in individuals with severe dysphagia. Surveillance includes EKG and echocardiogram every six to 12 months and yearly audiometry and endocrinologic evaluation.[1]
Last updated: 1/13/2009

Are there hospitals or clinics that specialize in the treatment of Kearns-Sayre syndrome?

The Muscular Dystrophy Association (MDA) offers a nationwide network of hospital-affiliated clinics staffed by top neuromuscular disease specialists. These clinics serve people with a range of neuromuscular disorders, including Kearns-Sayre syndrome. These clinics also serve as sites for clinical trials of the latest experimental therapies and drugs. MDA also offers some 240 support groups for those with neuromuscular diseases and their families. To learn about accessing these services, contact the MDA.

Muscular Dystrophy Association (MDA) - USA
National Headquarters
3300 E. Sunrise Drive
Tucson, AZ 85718
Toll-free: 800-344-4863
Web site: http://www.mdausa.org

You may also wish to utilize the services of the Mitochondria Research Society (MRS). This group is a nonprofit international organization of scientists and physicians. The purpose of MRS is to find a cure for mitochondrial diseases by promoting research on basic science of mitochondria, mitochondrial pathogenesis, prevention, diagnosis and treatment through out the world. You can locate physician experts through their web site.

Mitochondria Research Society
Toll-free: 1-888-MITO-411
Web: http://www.mitoresearch.org/index.html
Physician List: http://www.mitoresearch.org/newfiles/MRSExpertList.doc

Last updated: 1/13/2009

References
Other Names for this Disease
  • Chronic progressive external ophthalmoplegia with myopathy
  • CPEO with myopathy
  • CPEO with ragged red fibers
  • KSS
  • Mitochondrial cytopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.