Mitochondrial Encephalomyopathy
Mitochondrial Encephalomyopathy is a rare genetic disorder that affects the mitochondria, the energy-producing structures in cells. This condition primarily impacts the nervous system and muscles, leading to symptoms such as muscle weakness, pain, and neurological issues. It is often caused by mutations in mitochondrial DNA or nuclear DNA that affect mitochondrial function.
Individuals with Mitochondrial Encephalomyopathy may experience a range of symptoms, including seizures, developmental delays, and exercise intolerance. Diagnosis typically involves genetic testing and muscle biopsies. While there is no cure, management focuses on alleviating symptoms and improving quality of life through supportive therapies and lifestyle adjustments.