MELAS syndrome, which stands for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes, is a rare genetic disorder that affects the mitochondria, the energy-producing structures within cells. It is typically caused by mutations in the mitochondrial DNA.
MELAS syndrome primarily affects the nervous system and can lead to various symptoms including muscle weakness, seizures, migraines, hearing loss, vision problems, and cognitive decline. The condition often manifests in childhood or adolescence, but symptoms can appear at any age.
One of the hallmark features of MELAS syndrome is the presence of stroke-like episodes, which can cause temporary neurological deficits such as paralysis or impaired speech. These episodes can be triggered by physical exertion, infections, or other stressors.
Diagnosis of MELAS syndrome involves a combination of clinical evaluation, genetic testing, and analysis of mitochondrial function. While there is no cure for MELAS syndrome, treatment focuses on managing symptoms and supporting overall health. This may include medications, physical therapy, and dietary interventions.
It is important for individuals with MELAS syndrome to work closely with healthcare professionals to develop a personalized care plan and monitor their condition regularly.