Friedreich's Ataxia
Friedreich's Ataxia is a rare genetic disorder that affects the nervous system and the heart. It is caused by mutations in the FXN gene, which leads to a deficiency of the protein frataxin. This deficiency results in the degeneration of nerve cells in the spinal cord and peripheral nerves, causing problems with movement and coordination.
Symptoms typically begin in childhood or early adulthood and may include difficulty walking, loss of balance, and muscle weakness. As the condition progresses, individuals may also experience scoliosis and diabetes. There is currently no cure, but management focuses on improving quality of life through physical therapy and supportive care.