What is Friedreich ataxia?
Friedreich ataxia (FA) is a rare, life-shortening genetic condition that progressively damages the nervous system and causes loss of muscle control over time.
Friedreich ataxia is considered a rare disease, affecting about 1 in 50,000 people. In the United States, more than 5000 people may currently have FA. Worldwide, that number may be closer to 15,000.
As rare as it is, FA is still the most common form of inherited ataxia.
Diagnosing FA can be a challenge
While everyone’s experience is unique, there are some common things that doctors may look for when diagnosing FA. The first signs of FA typically appear between the ages of 10 and 15 years, but symptoms can emerge at almost any age. Typical early symptoms can include:
Some things a doctor may test to help them zero in on a diagnosis of FA include:
Reflexes of the lower legs
This is the test where they tap your knee with a reflex hammer to see how your leg reacts. In people with FA, this reflex is typically missing.
Vibrational sense in the feet
In this test, a special tuning fork is struck and placed on your foot to see if there might be nerve damage in your lower limbs. People with FA may not be able to feel the vibrations from the fork.
Clarity of speech
Not all people with FA will have speech difficulties early in their disease, but some people may slur their words.
Thickness of the spinal column
Magnetic resonance imaging (MRI) can show whether certain parts of the spinal column appear narrower than usual, which can be the case for people with FA.
Diagnosing FA can take a long time
The average time it takes to receive a diagnosis of FA is about 3 years. For some patients, particularly older patients, it can take even longer.
Misdiagnosis is common with FA, possibly because early symptoms overlap with other diseases that affect the nervous system. FA may be mistaken for multiple sclerosis (MS) in the early stages of the disease. FA may also be misdiagnosed as one of several similar types of ataxia.
Early genetic testing may be able to help speed up the diagnostic process.
Patients sharing their journeys to receiving a Friedreich ataxia diagnosis.