Friedreich's Ataxia (FA)
What is FA?
Friedreich’s ataxia (FA) is a genetic, progressive neuromuscular disease. People with FA experience issues with balance and coordination of movement that lead to life-altering loss of mobility. Other common symptoms can include fatigue, serious heart conditions, scoliosis, and diabetes. FA is life-shortening and affects an estimated 5,000 individuals in the United States and 15,000 worldwide.
Signs and Symptoms
All individuals with FA experience ataxia and neurological symptoms, but the severity and progression of these symptoms differ from person to person. Other symptoms also vary between individuals and are not always present. Different symptoms may appear over time, not necessarily all at once. The most prominent symptoms include impaired coordination and balance, muscle weakness, and difficulties with speech and swallowing. Other common symptoms include sensory loss, fatigue, vision and hearing problems, and skeletal abnormalities like scoliosis and foot deformities. FA often causes cardiomyopathy, resulting in a shortened live expectancy.