Kearns-Sayre Syndrome is a rare neuromuscular disorder that commonly affects people before the age of 20. Kearns-Sayre Syndrome is a serious condition that results from an abnormality in the DNA of mitochondria, and mutation in the mitochondria causes problems with a number of tissues and organs of the body. Kearns-Sayre Syndrome is characterized by a progressive limitation of the person’s eye movements leading to complete immobility of the eye. The most common symptoms of Kearns-Sayre Syndrome include heart disease, diabetes, deafness, heart block, and retinal pigmentation, among others.
HOW IS KEARNS-SAYRE SYNDROME DIAGNOSED?
Diagnosis of Kearns-Sayre Syndrome is based on symptoms and family history. A ophthalmologist conducts a thorough physical examination of the eye and evaluate your medical and family history. Specialized tests are conducted to confirm diagnosis. Heart blocks due to the disease can be detected through electrocardiogram. A muscle biopsy is conducted for detecting presence of deleted mtDNA
HOW IS KEARNS-SAYRE SYNDROME TREATED?
Treatment here would include check up with your doctor on a regular basis. In case of people who suffer from an acute blockage of the heart, some kind of devices like the pacemaker/implantable cardioverter-defibrillator are suggested of managing the problem. Surgery is an option but comes with high risks.
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.