Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system and muscles. The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body, altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines.
HOW IS MELAS SYNDROME DIAGNOSED?
The diagnosis of MELAS is usually suspected on clinical grounds. However, confirmation of the diagnosis usually requires a muscle or brain biopsy. The muscle biopsy shows characteristic ragged red fibers, a brain biopsy shows stroke-like changes. Brain imaging techniques such as magnetic resonance imaging (MRI) may be used to look for stroke-like lesions and magnetic resonance spectroscopy (MRS) may be used to look for a lactate peak in the brain. Electrocardiogram may be used to diagnose heart rhythm abnormalities and echocardiogram may be used to diagnose cardiomyopathy.
HOW IS MELAS SYNDROME TREATED?
There is actually no proper treatment available for MELAS and usually different symptoms are treated individually with physiotherapy, supplements, healthy diet and use of CoQ10 and Riboflavin in some cases. L-arginine is also used here.
DID YOU KNOW?
This inherited disorder usually begins between the ages of 2 -15 years. The mutated gene that causes this syndrome is inherited only from the mother.