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Friedreich’s Ataxia (FA)

Friedreich’s ataxia (FA) is a rare inherited condition that damages your nervous system. It causes muscle weakness, balance issues and sensory deficits that worsen over time. Symptoms most often begin in childhood but can also begin in adulthood. There currently isn’t a cure for FA, but treatment involves managing symptoms and complications of the condition.

Overview

What is Friedreich’s ataxia?

Friedreich’s ataxia (FA or FDRA) is a rare genetic condition that causes progressive nervous system damage and movement issues. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time.

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Friedreich’s ataxia often affects other parts of your body, like your skeletal system, heart and pancreas. It doesn’t affect thinking and reasoning abilities (cognitive functions).

While Friedreich’s ataxia is the most common form of hereditary ataxia, it’s generally rare. FA affects approximately 1 in every 50,000 people in the United States. Globally, it affects 1 in every 40,000 people.

FA is named after Nikolaus Friedreich, a pathologist who first described the condition in 1863.

Seeing your child have symptoms like issues with coordination and movement can be alarming. You may worry about how much worse it’ll get and how it’ll affect your child’s life. The best thing you can do is see a healthcare provider who specializes in these kinds of conditions. They can ease your concerns and answer your questions along the way.

Types of Friedreich’s ataxia

“Typical” Friedreich’s ataxia often develops before age 25. There are also two atypical forms of FA, which represent about 15% of all FA cases:

  • Late-onset Friedreich’s ataxia (LOFA): With this type of FA, you develop symptoms after the age of 25.
  • Very late-onset Friedreich’s ataxia (VLOFA): Signs and symptoms start after age 40 in VLOFA.

LOFA and VLOFA usually progress more slowly than typical FA.

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Symptoms and Causes

Symptoms of Friedreich’s ataxia include difficulty standing or walking, fatigue, jerky movements and speech issues
Friedreich’s ataxia is a rare genetic condition that causes progressive nervous system damage and movement issues. It usually begins in childhood.

What are the symptoms of Friedreich’s ataxia?

Symptoms of Friedreich’s ataxia usually begin between the ages of 5 and 15. But some people with FA experience symptoms starting as young as 2 and as old as 50.

The first neurological symptom to appear is usually difficulty standing and walking and balance issues (gait ataxia). Over time, the existing symptoms get worse and new symptoms can develop.

FA’s major neurological symptoms include:

These symptoms can present as:

Complications of Friedreich’s ataxia

About 75% of people with FA develop heart issues. The most common ones include:

Other cardiac complications that can result from FA include:

FA can also damage the cells in your pancreas that make the hormone insulin, which is essential for maintaining healthy blood glucose (sugar) levels. Without enough insulin, your blood sugar levels increase, resulting in hyperglycemia. This can lead to diabetes. Approximately 30% of people with FA develop diabetes.

What causes Friedreich’s ataxia?

Friedreich’s ataxia is a genetic condition — a change (mutation) in the FXN gene causes the condition. This gene carries the code for an essential protein called frataxin.

Frataxin is a protein in the energy-producing parts of the cells in your body called mitochondria. Although scientists don’t fully understand its role, frataxin is important for the normal function of mitochondria. The gene change that causes FA greatly disrupts the normal production of frataxin.

Without a normal level of frataxin, certain cells in your body produce energy less effectively and create a buildup of toxic byproducts. This is called oxidative stress, and it damages your cells.

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FA especially affects cells in your:

Friedreich’s ataxia inheritance pattern

Friedreich’s ataxia develops when you inherit two mutated copies of the FXN gene, one from each biological parent. Healthcare providers call this an autosomal recessive inheritance pattern.

The biological parents of a person with an autosomal recessive condition each carry one copy of the mutated gene (they’re carriers). But they typically don’t show signs and symptoms of the condition.

Diagnosis and Tests

How is Friedreich’s ataxia diagnosed?

To start, your child’s healthcare provider will ask about their symptoms and medical history. They’ll then do a thorough physical exam and neurological exam.

Your child’s provider will next likely recommend a variety of tests. Genetic testing is the main test that can confirm Friedreich’s ataxia. Their provider may order other tests to help in the diagnosis and/or to assess areas of your child’s body that may be affected by FA. These tests include:

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Management and Treatment

What is the treatment for Friedreich’s ataxia?

In 2023, the U.S. Food and Drug Administration (FDA) approved the first medication specifically for Friedreich’s ataxia — omaveloxolone (SKYCLARYS™) — for people aged 16 and older. Studies show this medication can help improve neurological function and ataxia. Research is ongoing to understand the possible long-term effects of omaveloxolone.

Omaveloxolone isn’t a cure for FA. Aside from this medication, the main goal of treatment is to improve symptoms and complications of FA to maintain optimal functioning for as long as possible. This kind of therapy may include:

  • Physical therapy to prolong muscle function and improve coordination, balance, strength and stabilization.
  • Speech therapy to help re-train your child’s tongue and facial muscles to improve speech and swallowing.
  • Corrective braces or surgery for orthopaedic issues, like foot deformities and scoliosis.
  • Medication for certain heart conditions, if present.
  • Medication for diabetes, if present.
  • Pain management therapies.
  • Antibiotics to prevent or treat infections.
  • Mobility support devices, such as orthopaedic shoes, canes and wheelchairs.
  • Heart transplantation if you have a milder form of FA but significant cardiomyopathy.

You’ll likely need a team of healthcare specialists to help manage FA. The team may include:

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Friedreich’s ataxia affects everyone differently and at different rates. Your child’s healthcare team will develop an individualized plan for therapy that will change as your child grows.

Prevention

Can I prevent Friedreich’s ataxia?

As Friedreich’s ataxia is the result of a genetic change, there’s nothing you can do to prevent it. If you plan on having a biological child, talk with your healthcare provider or a genetic counselor about testing to understand your risk of having a child with a genetic condition like Friedreich’s ataxia.

Outlook / Prognosis

What is the prognosis (outlook) for someone with Friedreich’s ataxia?

It’s important to remember that no two people with Friedreich’s ataxia are affected in the same way. It’s impossible to predict your prognosis (outlook) with certainty. The best way you can prepare for the future is to talk to healthcare providers who specialize in researching and treating Friedreich’s ataxia.

Friedreich’s ataxia life expectancy

As Friedreich’s ataxia is a degenerative condition and worsens over time, people with FA tend to have a shorter life expectancy than the average population. The most common cause of death in people with FA is hypertrophic cardiomyopathy.

FA affects everyone differently. Many people with FA live until at least their 30s, and some live into their 60s or beyond.

Living With

When should I see my healthcare provider?

If you or your child have Friedreich’s ataxia, you’ll need to see your team of healthcare providers regularly to receive treatment and monitor symptoms.

A note from Cleveland Clinic

Understanding your child’s Friedreich’s ataxia (FA) diagnosis can be overwhelming. Their healthcare team will offer a robust treatment plan that’s unique to your child’s symptoms. It’s important to make sure your child is getting the love and support they need throughout their life and stay attentive to their health to address any new symptoms that arise. Don’t forget to take care of yourself as well. Look for support groups to join or reach out to a mental health professional if you’re feeling distressed.

Medically Reviewed

Last reviewed on 10/31/2024.

Learn more about the Health Library and our editorial process.

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