Kearns-Sayre Syndrome is a rare neuromuscular disorder that affects the eye muscles and other muscles. Kearns-Sayre Syndrome is part of the larger group of neuromuscular disorders called mitochondrial encephalomyopathies. Symptoms are:
• Difficulty in opening eyelids
• Restricted eye movements
• Pigmentary retinopathy
• Cardiac conduction abnormalities
• Weakness of facial, trunk and extremities muscles
HOW IS KEARNS-SAYRE SYNDROME DIAGNOSED?
There are two tests that may be performed should a diagnosis of Kearns-Sayre syndrome be suspected. The first involves checking the lactate and protein levels in the person's cerebrospinal fluid. The other test involves examining a biopsy of the person's muscle in order to see if the DNA in their mitochondria is abnormal.
HOW IS KEARNS-SAYRE SYNDROME TREATED?
Treatment is based on the symptoms. Surgery may be needed to correct visual problems. Separate treatments are needed for resolving the various associated disorders.
DID YOU KNOW?
Most cases of KSS are a result of spontaneous deletion of a large amount of genetic material found in the DNA of mitochondria (mtDNA). In most cases, the condition is inherited from the mother.