Diseases Studied

Mitochondrial encephalomyopathy lactic acidosis with stroke-like episodes (MELAS)

Alternative Names: MELAS Syndrome; Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Disease Category: Mitochondrial Disorders

A rare, inherited disorder of the nerves and muscles caused by mutations affecting the mitochondria (specialized cell structures that produce energy). The main manifestations are stroke-like episodes causing neurological problems such as hemiparesis (muscle weakness on one side of the body) or hemianopsia (loss of vision on the left or right side), seizures, encephalopathy (brain disease), lactic acidosis (high blood lactate levels). Other symptoms and signs include: hearing loss, severe recurrent headaches, altered consciousness, intellectual disability, muscle and abdominal pain, loss of appetite, vomiting, fatigue, myoclonus (muscle jerking), ataxia (lack of coordination), diabetes, hormonal imbalance, heart problems, and kidney problems.

Research groups studying this disease