Kearns Sayre syndrome seems to occur sporadically (is not inherited). It affects people of all ethnic backgrounds.
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)
Diagnosis
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.
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.
Information for this article was taken from:
Posner, E. (2002). Kearns-Sayre syndrome. eMedicine, accessed at
http://www.emedicine.com/ped/topic2763.htm
