Friedreich's Ataxia

Friedreich's Ataxia is a severe genetic neuromuscular disorder that results in the degeneration of an individual's nerve and muscle tissue. This disorder causes loss of muscle control, uncoordinated movements, muscle wasting, and thickening of certain heart walls, which frequently leads to a shortened life span. Friedreich's Ataxia affects both males and females equally, with an average onset of the disease between 5 to 15 years of age. Average life expectancy for Friedreich's Ataxia patients is limited to approximately 35 to 50 years.

As the disease progresses, patients suffer increasingly severe effects such as loss of motor coordination, fatigue, slurred speech, hearing and visual impairment, spinal deformation, and respiratory and cardiac complications leading to severe disability and, often, premature death. In alignment with this progression, patients become increasingly disabled and require significant health and social care, and the costs associated with such care increase. Current treatments are focused on support therapies, such as walking aids, wheelchairs, physical and speech therapy, and corrective surgery, as well as psychological support.