# Friedreich Ataxia

## What is Friedreich ataxia?

Friedreich ataxia (FA) is a rare, inherited disorder that causes progressive damage to the nervous system. This can cause movement and sensory symptoms and trouble with walking and gait. In FA, nerve fibers in the spinal cord and peripheral nerves break down, becoming thinner. In the brain, the cerebellum, part of the brain that coordinates balance and movement, is most affected. 

FA affects a person’s peripheral nerves, which carry information back and forth from the brain to the body using sensory and motor signals. This is why a person with FA develops motor weakness and sensory loss. Symptoms typically begin between the ages of five and 15, although they sometimes appear after age 25. Symptoms of FA may include:

                    - Awkward, unsteady movements and impaired muscle coordination (ataxia) that worsens over time
                    - Difficulty walking and poor balance 
                    - Impaired sensory functions, such as loss of sensation in the arms and legs, which may spread to the trunk and other parts of the body

                    - Loss of normal reflexes, especially in the knees and ankles
                    - Slowness and slurring of speech (dysarthria)
                    - Increased muscle tone (spasticity)
                    - Curving of the spine to one side (scoliosis)
                    - Difficulty swallowing
                    - Hearing and vision loss
                    - Fatigue

FA also may cause heart disease, specifically cardiomyopathy (a disease of cardiac muscle that may lead to heart failure or heart rhythm irregularities), and diabetes. 

Progression of FA varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, individuals with FA may need to use a wheelchair. In later stages of the disorder, people may become completely incapacitated. There is no cure for the disorder, and heart disease is the most common cause of death in people with FA. However, some people with less severe FA live into their sixties or older.

## Who is more likely to get Friedreich ataxia?

Although rare, Friedreich ataxia is the most common form of hereditary ataxia in the United States. 

Friedreich ataxia is caused by a defect (mutation) in a gene labeled FXN, which carries the genetic code for the production of a protein called frataxin. Frataxin is necessary for the proper function of the energy-producing part of a cell (called the mitochondria). 

In FA, an abnormal pattern in the DNA sequence of the protein (called a GAA triplet repeat) appears hundreds or more times, which greatly disrupts the normal production of frataxin. Research suggests that without a normal level of frataxin, certain cells in the body (especially peripheral nerve, spinal cord, brain, and heart muscle cells) produce energy less effectively and may have a buildup of toxic byproducts leading to what is called “oxidative stress.” Lack of normal levels of frataxin also may lead to increased levels of iron in the mitochondria. When the excess iron reacts with oxygen, free radicals can be produced. Although free radicals are essential molecules in the body metabolism, they can also destroy cells and harm the body.

Individuals who inherit two defective copies of the FXN gene, one from each parent, will develop the disease. A person who inherits only one abnormal copy of the gene is called a carrier. A carrier will not develop the disease but could pass the gene mutation on to his or her children. This is called autosomal recessive inheritance. Genetic testing can determine if a person is a carrier of FA and whether they will pass FA along to any future children. 

## How is Friedreich ataxia diagnosed and treated?

### Diagnosing Friedreich ataxia

Genetic testing can provide a conclusive diagnosis of FA. A diagnosis of FA should also include a medical history and a thorough physical exam by a clinician. The healthcare provider will look for difficulty with balance, loss of sensation, absence of reflexes, and signs of other neurological problems. Other tests that may aid in the diagnosis or management of the disorder include:

                    - **Electromyogram (EMG)**, which measures the electrical activity of muscle cells
                    - **Nerve conduction studies**, which measure the speed with which nerves transmit impulses
                    - **Electrocardiogram (also called EKG or ECG)**, which gives a graphic presentation of the electrical activity or beat pattern of the heart
                    - **Echocardiogram**, which records the motion and function of the heart muscle

                    - **Blood tests** to check for the elevated glucose and vitamin E levels seen in FA
                    - **MRI (magnetic resonance imaging) or CT (computed tomography)**scans, which provide brain and spinal cord images that are useful to look for thinning of spinal cord and cerebellum as well as to rule out other neurological conditions

Doctors measure the progression of FA using tools called FARS (Friedreich's Ataxia Rating Scale), mFARS (modified FARS) or SARA (Scale for Assessment and Rate of Ataxia) to measure neurological function and severity of a person’s symptoms over time. 

### Treating Friedreich ataxia

In 2023, the US Food and Drug Administration approved the first medication, called omaveloxolone, to treat FA in individuals 16 years of age or older.

There is currently no cure for FA. However, many of the symptoms and accompanying complications can be treated or managed to help people maintain function and daily activities as long as possible. 

People with FA should be treated by a multidisciplinary team of professionals that can support medical treatment as well as functional support through physical therapy. Doctors can prescribe treatments for diabetes, if present; some of the heart problems can be treated with medication as well. Orthopedic problems such as foot deformities and scoliosis can be corrected with braces or surgery. Physical therapy may help the person maintain function of their arms and legs for longer. Speech and language therapists can help with supports for swallowing and speech issues and closely monitor of these symptoms. Hearing aids can help with FA-associated hearing loss. 

## What are the latest updates on Friedreich ataxia?

NINDS is a component of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. The range of NIH-funded research on FA includes determining how the gene mutation affects nerve functions, gaining a better understanding of frataxin, investigating ways to override or prevent the activation of genetic mutation, and developing treatments for the disease. In addition to NINDS, several other NIH institutes and centers support FA research.

Researchers hope to find a way to silence the abnormal FXN gene and restore normal gene function. One approach is using stem cell lines that have been turned into nerve cells for experiments to study gene expression changes and its effect on the cells in response to modification to FXN gene. 

Other research efforts include seeking a better understanding of the mitochondrial defects associated with the disease, developing new animal models of FA that closely mimic the gene mutations found in people, and developing biomarkers (biological signals that can indicate disease or disease progression) for future clinical trials.

More information about Friedreich ataxia research can be found using NIH RePORTER, a searchable database of current and past research projects supported by NIH and other federal agencies. RePORTER also includes links to publications and resources from these projects. For research articles and summaries on FA, search PubMed, which contains citations from medical journals and other sites.

file-medical

## How can I or my loved one help improve care for people with Friedreich ataxia?

Consider participating in a clinical trial so clinicians and scientists can learn more about Friedreich ataxia. Clinical research uses human study participants to help researchers learn more about a disorder and perhaps find better ways to safely diagnose, treat, or prevent disease.

All types of participants are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with FA at Clinicaltrials.gov, a searchable database of current and past clinical studies and research results.
> Where can I find more information on Friedreich ataxia?
Information may be available from the following resources:

Friedreich's Ataxia Research Alliance (FARA)Phone: 703-426-1576

Genetic AlliancePhone: 202-966-5557 or 800-336-4363

Muscular Dystrophy AssociationPhone: 800-572-1717

National Ataxia Foundation (NAF)Phone: 763-553-0020

National Organization for Rare Disorders (NORD)Phone: 203-744-0100 or 800-999-6673

book-open