What is Friedreich’s Ataxia?
Friedreich’s ataxia (FA) is a rare inherited neurodegenerative disorder that primarily affects the nervous system and the heart. It is caused by mutations in the FXN gene, which reduce the production of a protein called frataxin, essential for mitochondrial function. This deficiency leads to nerve and muscle damage over time, impairing coordination, mobility and various body systems. FA typically begins in childhood or adolescence, though adult-onset forms exist. Below are common signs and symptoms of FA, followed by current treatments, including the recently approved medication Skyclarys. The defining feature of FA is progressive ataxia—an unsteady gait and difficulty coordinating...
