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?
There is currently no effective way to treat mitochondrial abnormalities in KSS. Treatment is generally symptomatic and supportive. Management of KSS involves multiple specialties depending on the organs involved. The most essential is a regular and long-term follow-up with cardiologists. Conduction problems of heart impulse like heart block may be treated with a pacemaker. Other consultations may include audiology, ophthalmology, endocrinology, neurology, and neuropsychiatry. Hearing aids may be required. There is typically no treatment for limitation in eye movement. Endocrinology abnormalities can be treated with drugs.
DID YOU KNOW?
In some cases multiple organs are affected because of this disease, which invariably leads to decline of health.