Mitochondrial diseases are a group of disorders caused by defects in mitochondrial DNA (mtDNA). mtDNA is a small, circular DNA molecule found in the mitochondria, which are the energy-producing organelles of cells. Mitochondrial diseases can affect any organ or tissue in the body, and symptoms can vary widely depending on the specific mutation.
Some of the most common mitochondrial diseases include:
- Leigh syndrome: A severe neurological disorder that typically presents in infancy or early childhood. Symptoms can include seizures, developmental delays, and muscle weakness.
- Kearns-Sayre syndrome: A multisystem disorder that can affect the heart, muscles, eyes, and nervous system. Symptoms can include weakness, fatigue, vision problems, and hearing loss.
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): A disorder that can affect the brain, muscles, and heart. Symptoms can include seizures, strokes, and lactic acidosis.
- Mitochondrial myopathy: A disorder that affects the muscles. Symptoms can include weakness, fatigue, and muscle pain.
- Mitochondrial diabetes: A type of diabetes that is caused by mtDNA mutations. Symptoms can include high blood sugar levels, weight loss, and fatigue.
Mitochondrial diseases are often difficult to diagnose, as they can mimic other conditions. A diagnosis is typically made based on a combination of symptoms, family history, and genetic testing.
There is currently no cure for mitochondrial diseases, but treatment can help to manage symptoms and improve quality of life. Treatment may include medications, dietary changes, and physical therapy.