mitochondrial myopathy

Mitochondrial myopathies are a group of inherited conditions resulting from the malfunction of mitochondria, the energy-producing powerhouses of cells. These disorders can affect individuals at any age and present with a wide range of symptoms, impacting one or multiple organs.1

A common characteristic of mitochondrial myopathies with defective oxidative metabolism is the tendency for muscles to produce excessive lactic acid due to energy generation from nonoxidative pathways. Symptoms can include muscle weakness, fatigue, developmental delays, and in severe cases, organ failure. Diagnosis often involves clinical evaluation and genetic testing, with treatment focusing on supportive care.21