Melas Syndrome is a rare disorder that begins in childhood, between 2 and 15 years of age. Melas Syndrome affects the nervous system and muscles. Early symptoms are: seizures, recurrent headaches, loss of appetite and recurrent vomiting. As the disease progresses, severe symptoms like stroke, muscle weakness, vision impairment and loss of motor skills are observed.
HOW IS MELAS SYNDROME DIAGNOSED?
A muscle and brain biopsy would help in diagnosing this syndrome. A brain biopsy would show stroke-like changes and the muscle biopsy could show ragged red fibres which are characteristic of this disorder.
HOW IS MELAS SYNDROME TREATED?
There is no known treatment for the underlying disease, which is progressive and fatal. Patients are managed according to what areas of the body are affected at a particular time. antioxidants and vitamins have been used, but there have been no consistent successes reported.
DID YOU KNOW?
MELAS is caused by mutations in mitochondrial DNA and in one patient, this syndrome has been associated with mutations in a nuclear gene, POLG1. Mutations in the mitochondrial chromosome are responsible for a number of other disorders aside from MELAS such as:
• an important eye disease called Leber hereditary optic atrophy,
• a type of epilepsy called MERRF which stands for Myoclonus Epilepsy with Ragged Red Fibers, and
• a neuromuscular disease called the Kearns-Sayre syndrome.