What is Friedreich's ataxia?

Friedreich's ataxia is a rare, inherited disease. It damages the spinal cord, peripheral nerves, and the cerebellum part of the brain. It also leads to heart problems. This disease tends to develop in children and teens. It slowly gets worse over time. Unsteady, awkward movements and a loss of feeling due to nerve injury develop as the disease gets worse. People with this disorder may have other health problems, such as diabetes and heart disease, along with nervous system symptoms.

Early age of onset has been found to be an important predictor of how serious the disease will become and how fast symptoms may develop. The four age-of-onset categories are: early onset (0 to 7 years), typical onset (8 to 14 years), intermediate onset (15 to 25 years), and late onset (25 years of age and older).

This disease is named after Nicholaus Friedreich, the German healthcare provider who discovered it in the 1860s. Ataxia is a lack of muscle control. It causes gait problems.

What causes Friedreich's ataxia?

Friedreich's ataxia is an inherited disease. It's caused by a problem in a gene called FXN. It's a recessive genetic disorder. This means you need to get a copy of the gene defect from both parents to be affected.

What are the symptoms of Friedreich's ataxia?

Symptoms of Friedreich's ataxia often start between ages 5 and 15. But they can start later in life. They tend to get worse over time. Symptoms include:

• Trouble walking

• Tiredness

• A loss of feeling that starts in the legs and spreads to the arms and trunk

• Loss of reflexes

• Slow or slurred speech

• Hearing loss

• Vision loss

• Chest pain

• Shortness of breath

• Heart palpitations

These symptoms might be because of nerve damage. Or they may be from the heart problems that tend to develop in people with this disease. Many people eventually develop a curving of the spine to one side (scoliosis) or foot deformities. These often need surgery. Some people with the condition also get diabetes.

How is Friedreich's ataxia diagnosed?

To diagnose Friedreich's ataxia, your healthcare provider will ask about your past health and do a physical exam. You may also need:

• Tests to check your reflexes, balance, and nerve sensation

• Blood tests

• Imaging scans, such as an MRI or a CT scan

• Nerve conduction studies that use electrical impulses to check nerve activity

• Heart tests

• Genetic tests to find the defective gene causing the disorder

How is Friedreich's ataxia treated?

There is no cure for Friedreich's ataxia. But some possible breakthrough treatments are being studied. Some medicines with antioxidant properties have shown some promise.

Treatment focuses on easing symptoms and maintaining comfort and function for as long as possible. Choices are:

• Braces to bolster the arms, legs, feet, or spine

• Physical therapy

• Speech therapy

• Occupational therapy

• Surgery to fix skeletal problems

Treatment also focuses on treating problems as they come up, such as heart disease and diabetes. You may need medicines for these problems.

Living with Friedreich's ataxia

Friedreich's ataxia tends to get worse over time. But the course can vary from person to person. Treatment can often help limit symptoms and keep this condition under control for as long as possible.

As the disease gets worse, it often leads to scoliosis or foot problems. You may need surgery for these problems.

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It can also cause heart problems. This is because of weakened heart muscle and problems in the electrical system of your heart. Some people with this disease get diabetes. Follow your healthcare provider's advice to help limit the effects of these problems.

Because of the effects of Friedreich's ataxia on the nervous system and other organs, many people will need to use a wheelchair within 10 to 20 years. Slurred speech, hearing loss, and vision problems can occur as the disease gets worse. Some people might die from heart failure or other complications. But some people live into their 70s or beyond.

If you have permanent physical impairments, physical therapy can be of great help. It can help maintain or increase strength and improve coordination. Occupational therapy can also help. This therapy teaches new ways of doing everyday tasks in spite of physical limits. Speech therapy can also be helpful if speech is affected.

Some people with physical disabilities can feel sad or depressed. Antidepressants and psychotherapy can both help treat depression.

A diagnosis of Friedreich's ataxia can have a large emotional and financial impact on both the person and the family. Counseling and community resource support can be critical to family stability.

The Americans with Disability Act (ADA) provides special protections for people with disabilities. These laws apply to children in the public school system. They allow children with serious disabilities equal access to educational opportunities. Contact your school for information. The ADA also protects adults with disabilities from discrimination. You can find more information at: ada.gov.

When should I call my healthcare provider?

If you have Friedreich's ataxia, talk with your healthcare provider about when you might need to call them. They will likely tell you to call if you notice any symptoms getting worse or if you develop any new symptoms. Keep all scheduled appointments with your primary care provider so your best level of health can be maintained and you can stay up-to-date on new treatments for Friedreich's ataxia.

Key points about Friedreich's ataxia

• Friedreich's ataxia is a disorder that affects some of the body’s nerves and the heart. It's caused by a gene defect that's inherited from both parents.

• Symptoms often start in late childhood. They can include trouble walking, fatigue, changes in feelings, and slowed speech. These tend to get worse over time. Heart disease, skeletal problems, and diabetes can also occur.

• Friedreich's ataxia can't be cured at this time. But newer treatments are now being studied. Current treatments, such as surgery and physical therapy, are aimed at keeping the disease in check for as long as possible. Medicines are often used to treat heart disease or diabetes.

• Counseling and community resource support can help the person and family manage the emotional and financial stress of this condition.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

• Know the reason for your visit and what you want to happen.

• Before your visit, write down questions you want answered.

• Bring someone with you to help you ask questions and remember what your provider tells you.

• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.

• Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.

• Ask if your condition can be treated in other ways.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if you do not take the medicine or have the test or procedure.

• If you have a follow-up appointment, write down the date, time, and purpose for that visit.

• Know how you can contact your healthcare provider if you have questions, especially after office hours or on weekends.