Mitochondrial diseases are long-term, genetic, often inherited disorders that occur when mitochondria fail to produce enough energy for the body to function properly.
The "ME" in MELAS stands for Mitochondrial Encephalomyopathy. Encephalomyopathies are rare genetic disorders causing neuromuscular junction dysfunction.
The "LA" in MELAS stands for Lactic Acidosis. Lactic acidosis is a form of metabolic acidosis that begins when a person overproduces or underutilizes lactic acid.
The "S" in MELAS stands for "Stroke-like Episodes". These episodes mimic strokes but their pathophysiology is different than that of true vascular events. These episodes can present with unilateral muscle weakness, visual abnormalities, or confusion.
Patients with MELAS often experience muscle weakness due to mitochondrial dysfunction.
Patients with MELAS may experience seizures. A seizure is a sudden, uncontrolled electrical disturbance in the brain. It can cause changes in behavior, movements, feelings, and level of consciousness.
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