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, coordination, and balance.
Symptoms typically begin in childhood or early adulthood and may include difficulty walking, loss of reflexes, and scoliosis. As the condition progresses, individuals may experience speech difficulties and heart complications. There is currently no cure, but management focuses on alleviating symptoms and improving quality of life.