What is Friedreich Ataxia?

Friedreich Ataxia (FA) is a progressive neurodegenerative disorder that affects the nervous system and muscles. It is caused by a mutation in the frataxin gene, leading to a deficiency in this essential protein. This deficiency impacts the mitochondria, the energy-producing parts of cells, resulting in cell damage and death.

The primary symptom of FA is ataxia, which is the inability to coordinate voluntary muscle movements. This can lead to difficulty walking, talking, and performing other daily activities. As the condition progresses, individuals may also experience:

• Fatigue and muscle weakness

• Slurred speech and hearing loss

• Scoliosis (curvature of the spine)

• Pes cavus (high arches in the feet)

• Diabetes mellitus

• Heart problems, such as hypertrophic cardiomyopathy and arrhythmias

FA typically begins in childhood or adolescence, but can onset at any age. While there is currently no cure for FA, treatments can help manage symptoms and improve quality of life.

How does a person get FA?

Up to 1 in 90 people in New Zealand are carriers of the gene and when both parents are carriers (and show no symptoms of the condition) there is a 1 in 4 chance of having a child with FA as the altered gene is recessive. This means there can be more than one child in a family with FA though there may be no family history of the condition. Symptoms commonly occur between the ages of 5-15 years however late onset FA can occur anytime during adulthood.