Mitochondrial Myopathies
Mitochondrial Myopathies are a group of rare genetic disorders that affect the mitochondria, the energy-producing structures in cells. These conditions can lead to muscle weakness, pain, and fatigue due to the muscles not receiving enough energy to function properly. Symptoms often vary widely among individuals and can include exercise intolerance and muscle cramps.
The underlying cause of Mitochondrial Myopathies is typically mutations in the DNA of mitochondria or nuclear DNA that affects mitochondrial function. Diagnosis usually involves a combination of clinical evaluation, muscle biopsies, and genetic testing. While there is no cure, management focuses on alleviating symptoms and improving quality of life.