Friedreich’s ataxia

What is Friedreich’s ataxia?

Friedreich’s ataxia (FA) is a rare genetic condition that mainly affects the nervous system and the heart. The condition causes a breakdown of nerve tissue in some areas of the brain and spinal cord leading to ataxia (loss of control of body movements), which worsens over time.

About 5,000 people in the United States and 15,000 worldwide live with FA.

Prognosis

Signs and symptoms of the disease usually begin between the ages of 5 and 18 years but may also appear in adulthood. Symptoms can include loss of coordination and fatigue, vision, hearing and speech impairments, through to scoliosis, diabetes, and serious heart conditions. The disease progressively impairs mobility, leading to the eventual full-time use of a wheelchair. The life expectancy of people living with FA varies depending on the severity of their symptoms, but it typically ranges between 40-50 years.

Treatments

There are currently no disease modifying therapies available, and treatment of FA focuses on symptom management. Many experimental procedures such as protein replacement therapy, gene replacement therapies, epigenetic approaches, and pharmacotherapies are currently being trialled.

For more information about FA and the fight to find a cure please visit the FARA website.