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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), is a rare genetic mitochondrial disorder. Mitochondria are the powerhouses of our cells and when they do not work properly it can affect many different body systems. The brain, nervous system, and muscles are primarily affected in patients with MELAS. Early symptoms of MELAS include muscle weakness and pain, loss of appetite, recurrent headaches, seizures, vomiting, and stroke-like episodes. As individuals experience repeated stroke-like episodes, symptoms may progress to vision loss, movement disorders, and dementia. The heart, gastrointestinal system, kidneys, endocrine system, and skin may be affected as well.
MELAS is caused by mutations in one of several mitochondrial DNA genes. More than 80% of individuals with MELAS have mutations in a gene called MT-TL1.
Current management is aimed at treating acute stroke-like episodes, alleviating symptoms, and improving quality of life.
The latest on our research
We are jumpstarting our MELAS program to accelerate research on this condition and to ultimately improve treatment options. We welcome all patients and caregivers interested in participating and spreading the word to the MELAS community.