How is Friedreich ataxia treated?

Friedreich ataxia (FA) is the most common type of hereditary ataxia. It is caused by an inherited mutation to the FXN gene. This gene contains instructions for making a protein called frataxin. Cells require this protein to make energy and regulate iron levels. The inability to produce frataxin causes cells to deteriorate and die.

In FA, this affects the cells of the nervous system and heart. In most cases, symptoms begin during childhood, adolescence, or young adulthood, though there are subtypes of FA that occur later.

What is the treatment for FA?

There is no cure for FA, and treatment focuses on addressing symptoms, addressing complications, and improving quality of life for people living with the condition. Treatment will change over time as the condition progresses.

Treatment for FA typically involves a multidisciplinary team made up of different providers with different specialties, who oversee different aspects of treatment. Because FA is a disease that primarily affects the nervous system, treatment is often overseen by a neurologist.

Therapies and providers involved in the treatment of FA may include:

Physical and occupational therapy

FA causes problems with movement, balance, coordination, and strength. Physical and occupational therapy may help improve function and help a person with FA find ways to work with changes in function (for example, by using assistive devices). Physical therapy focuses on improving a person’s ability to move, while occupational therapy focuses on performing specific tasks (such as tasks related to work, school, or personal care).

Genetic counseling

FA is diagnosed with genetic testing. A genetic counselor is a healthcare provider with specialized training in genetics, genetic testing, and counseling individuals and families who are affected by genetic disorders. A genetic counselor can help you understand treatment options, refer you to other healthcare providers, and guide you toward support and resources.

Speech therapy

FA often causes speech and language disorders, as well as difficulty with swallowing. A speech therapist (speech-language pathologist) can provide treatment to help address these symptoms.

Mental health and support

Counseling, therapy, and social support should be a focus of a treatment for people living with FA, as well as caregivers and family members. A counselor can provide guidance with communication, how to discuss the diagnosis, and ways to cope with the mental and emotional burden of FA. People whose lives are affected by the condition should also consider participating in support groups and contacting organizations that provide support.

Medication and clinical trials

A medication to treat FA became available in 2023. The drug can help slow the progression of FA, but it cannot alter the course of the disease. A variety of different treatments are under development, including gene replacement therapies. A person with FA may consider participating in a clinical trial for therapies under development—and if this is something you are interested in, talk to your healthcare team.

Other specialists and therapies

The above is not a comprehensive list. Treatment for FA can be a bit different for each person, and additional therapies and healthcare providers may play a role in treatment as FA progresses. FA can cause a wide range of disorders and complications. A treatment plan may include medications to manage pain, cardiac disorders, and diabetes. It may also require treatment from an orthopedic surgeon to address problems with the spine and feet.