Mitochondrial Disease

Kearns Sayre Syndrome


What is Kearns Sayre Syndrome?

Kearns Sayre Syndrome is due to defects in the DNA in mitochondria, the parts of cells that generate energy for the body to do its work.

Kearns Sayre syndrome seems to occur sporadically (is not inherited). It affects people of all ethnic backgrounds.

Is Kearns sayre Syndrome known by any other name?

Yes, these include:

  • 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

Symptoms

There are three main features of Kearns Sayre syndrome:

  • It starts before age 20
  • Paralysis of certain eye muscles (external ophthalmoplegia) that gets worse over time
  • Degeneration of the retina, the part of the eye responsible for sight

Because mitochondria are found in cells throughout the body, Kearns Sayre syndrome may affect many different organs and body systems. Symptoms may include:

  • Muscle weakness
  • Difficulty walking or moving
  • Dementia, brain damage, or both
  • Deafness
  • Heart disease
  • Short stature (38% of individuals)
  • Small sex organs (20% of individuals)

Does Kearns Sayre Syndrome affect any one specifically?

Kearns-Sayre Syndrome does not affect a particular racial or ethnic group and affects males and females equally. Only a small number of cases have been reported in the literature, making this a very rare disorder.

How is it diagnosed?

If a diagnosis of Kearns Sayre syndrome is suspected, two tests can be done. One is to check the protein and lactate levels in the cerebrospinal fluid; if the syndrome is present, the levels are elevated. The other test would be to examine a muscle sample (biopsy), looking to see if the DNA in the mitochondria is abnormal.

Is there a treatment?

There is no treatment which can sure or stop Kearns Sayre syndrome, and unfortunately its effects become worse over time. Many complications can develop, such as diabetes, heart failure, and blindness. Problems are treated as needed. Exercise may help maintain or increase muscle strength. The drug ubidecarenone (Coenzyme Q10) may help relieve symptoms. All individuals with Kearns Sayre syndrome should be monitored by an ophthalmologist and a cardiologist.


Additional Information Available

 


 


 

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