What Is Friedreich Ataxia? 8 Facts You Must Know

Friedreich ataxia (sometimes abbreviated FA or FRDA) is a rare condition that affects the nervous system, heart, and other parts of the body. This neurological condition often begins in childhood or the teen years and gradually affects how a person walks, moves, speaks, and performs daily activities.

If you or your child has Friedreich ataxia, knowing some basics can help you feel more prepared. Below are eight key facts to help you gain a better understanding of this condition.

1. Friedreich Ataxia Is a Rare Condition

Friedreich ataxia is a rare disease. How often it occurs can vary by ancestry. Friedreich ataxia affects about 1 in 30,000 to 50,000 white people and is also seen in people of North African, Middle Eastern, Indian, and European backgrounds. It’s less common in people of Chinese, Japanese, and sub-Saharan African ancestry.

Although it’s rare, Friedreich ataxia is the most common inherited (genetic) ataxia in the United States. “Ataxia” means problems with coordination and balance. In Friedreich ataxia, damage to nerve pathways leads to trouble with walking, hand movements, and speech over time.

Many families have never heard of Friedreich ataxia before diagnosis, but they’re not alone on their new journey. Advocacy groups, research organizations, and online communities offer support and shared experiences.

2. Friedreich Ataxia Is Caused by Inherited Genes

Friedreich ataxia is an inherited disease — it’s passed down in families. You may not know of other family members with Friedreich ataxia because it follows an autosomal recessive pattern. This means a child must inherit one altered gene from each parent to develop the condition. Parents who carry one altered gene usually don’t have symptoms.

Friedreich ataxia is caused by mutations (changes) in a gene called FXN. This gene provides instructions for making a protein called frataxin, which helps cells produce energy, especially in heart and nerve cells.

Most people with Friedreich ataxia have a specific type of genetic change called a GAA repeat expansion in both copies of the FXN gene. This change lowers frataxin levels. When frataxin is too low, cells in the spinal cord, peripheral nerves, and heart become damaged over time and lead to symptoms.

3. Friedreich Ataxia Usually Begins in Childhood or Adolescence

Symptoms most often begin between ages 10 and 15, although they can show up either earlier or later. When symptoms start after age 25, it’s sometimes called atypical or late-onset Friedreich ataxia.

The first sign is often difficulty walking. A child may seem clumsy, trip frequently, or have trouble with balance. Because early symptoms can be subtle, diagnosis may take time.

4. Friedreich Ataxia Affects the Nerves and Muscles

Friedreich ataxia primarily affects the nervous system. Damage occurs in the spinal cord and peripheral nerves, which carry signals between the brain and the rest of the body. Over time, this can lead to:

• Trouble with balance and coordination
• Slurred or slow speech
• Weakness in the legs
• Loss of reflexes
• Reduced sensation in the feet and legs

Read more about symptoms of Friedreich ataxia.

5. Friedreich Ataxia Can Affect the Heart and Other Organs

The frataxin protein is important in heart muscle, so low levels can damage heart tissue and lead to heart problems. Many people with Friedreich ataxia develop a type of heart disease called cardiomyopathy, which can cause symptoms such as shortness of breath, chest discomfort, or fatigue. Some people also develop heart rhythm problems.

Other conditions linked to Friedreich ataxia include:

• Diabetes or problems with blood sugar
• Scoliosis (curving of the spine)
• Hearing loss or vision changes

Because Friedreich ataxia can affect many parts of the body, care often involves a team of specialists.

6. Friedreich Ataxia Is Diagnosed With Genetic Testing

Today, a Friedreich ataxia diagnosis is confirmed with a genetic test that looks for changes in the FXN gene. A blood sample is used to measure the number of GAA repeats.

Before genetic testing became widely available, diagnosis often required a mix of neurological exams, imaging, and other tests. Now, genetic testing can give a clear and accurate diagnosis in most cases.

To see how Friedreich ataxia is affecting the body, your healthcare provider may also use other tests such as:

• MRI scans of the brain and spinal cord
• Heart tests, including echocardiograms and electrocardiograms
• Muscle and nerve tests, such as electromyography (EMG) and nerve conduction studies
• Blood tests to check glucose (blood sugar) and vitamin levels

7. Friedreich Ataxia Is a Progressive Condition

Symptoms of Friedreich ataxia tend to progress (worsen) over time. Many people need mobility aids such as braces, walkers, or wheelchairs within 10 to 20 years after symptoms begin. However, progression varies widely, and some people keep their abilities for longer.

In the past, life expectancy for people with Friedreich ataxia was often shorter, usually due to heart complications. Today, better heart care and supportive treatments are helping improve outcomes. Ongoing research is exploring new treatment approaches that may change the long-term outlook.

It’s important to remember that each person’s experience is different. Regular follow-up with your healthcare team can help track changes and manage complications early.

8. Treatments Focus on Managing Symptoms

There’s currently no cure for Friedreich ataxia, but treatment options are growing. The U.S. Food and Drug Administration (FDA) has approved the first medication to improve function in people with Friedreich ataxia, omaveloxolone (Skyclarys).

Care typically includes:

• Physical therapy and occupational therapy to support mobility and daily activities
• Speech therapy to help with communication
• Heart care to monitor and treat heart problems
• Treatment for diabetes or other related conditions

Some people may choose to join clinical trials. Researchers are studying new treatments, including medications and gene-based approaches, that target low frataxin levels.

A comprehensive care plan is often coordinated by a neurologist and may include cardiologists, endocrinologists, orthopedic specialists, rehabilitation professionals, and genetic counselors.

Read more about treatment options for Friedreich ataxia.

Living With Friedreich Ataxia

A diagnosis of Friedreich ataxia can feel overwhelming. Parents may worry about the future and how to best support their child. Young adults may have questions about independence, school, work, and relationships.

Although Friedreich ataxia brings real challenges, many people live meaningful, connected lives. Early intervention, a coordinated medical team, adaptive equipment, and strong support networks can make a big difference.

Education and community are also powerful. Learning about Friedreich ataxia can help families advocate for the right care, school support, and workplace accommodations. Connecting with others who understand this condition can help reduce feelings of isolation.

Talk to Your Neurologist and Care Team

If you or your child has recently been diagnosed with Friedreich ataxia, connect with a neurologist who has experience in inherited ataxias. They can refer you to a care team that addresses different aspects of this condition. Bringing questions to appointments and keeping track of symptoms can help guide care.

Friedreich ataxia is complex, but learning more about it can help you make informed decisions and feel more prepared.

Join the Conversation

On MyAtaxiaTeam, people share their experiences with Friedreich ataxia, get advice, and find support from others who understand.

Do you or a loved one have Friedreich ataxia? Had you heard of this condition before receiving the diagnosis? Let others know in a comment below.