Friedreich Ataxia

Friedreich’s Ataxia is a genetic, neurodegenerative disorder that mainly affects the nervous system and results in progressive movement difficulties. The condition is caused by mutations in the FXN gene, which leads to a decrease in the production of a protein called frataxin. Reduced levels of frataxin cause mitochondrial dysfunction and an accumulation of iron within cells, resulting in nerve and muscle degeneration. Symptoms often begin in childhood and include gait disturbance, coordination issues, and speech difficulties. Over time, many individuals with Friedreich’s Ataxia may become wheelchair-bound and may also develop cardiac issues. While there is currently no cure, treatment focuses on symptom management.