Understanding Friedreich ataxia
What is Friedreich ataxia (FA)?
FA is a rare, genetic, progressive disease that damages the nervous system, causing people with FA to lose control of their muscles over time. It happens when a mutation in the frataxin gene (or FXN) causes the protein frataxin to be made incorrectly or causes the body to not make enough of it.
Without enough working frataxin, excess iron and oxidative stress cause large nerve cells to produce less energy over time and eventually lead to irreversible cell death.
FA often presents with nonspecific symptoms—however, the first signs of FA typically include some combination of the following:
Falls, clumsiness, challenges with balance, loss of sensation, fatigue
Challenges with lower limb coordination
Changes in speech
Increasing difficulty with hand and arm coordination
Mobility challenges that may eventually require the use of mobility aids such as canes or walkers, and within 10-15 years after symptom onset, a wheelchair
Other health complications, such as diabetes or heart problems
How is FA diagnosed?
FA can be confirmed with a genetic test. It is important that the test includes a Friedreich ataxia repeat expansion analysis. Your doctor can provide additional information about the specific test needed.