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Diseases

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.

Treatment

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How might Kearns-Sayre syndrome be treated?

Treatment for Kearns-Sayre syndrome is generally symptomatic and supportive.[1] 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.[2]
Last updated: 12/17/2014

References
  1. NINDS Kearns-Sayre Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 4, 2012; http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm. Accessed 12/17/2014.
  2. DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. GeneReviews. May 3, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1203/. Accessed 12/17/2014.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".
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.