What Is Friedreich’s Ataxia?
Friedreich’s ataxia (FA) is a rare condition. It causes damage to your nervous system that gets worse over time. As a result, you may have abnormal movements, trouble walking or speaking, difficulty swallowing, and hearing and vision loss.
It happens because nerves in your body are getting thinner. You need these nerves to send signals between your body and brain. These signals allow you to move the way you want.
FA also affects the cerebellum in your brain. This part of your brain is important for moving and balancing. But FA doesn’t affect other parts of your brain, including those you need to think and reason. So you’ll still be able to think the same way you would if you didn’t have FA.
What Causes Friedreich’s Ataxia?
FA is a genetic condition. That means that it gets passed down through families. You’ll have FA if you got abnormal copies of a gene called FXN from both of your parents. Your FXN gene will have lots of repeats in it.
This gene carries instructions to make a protein called frataxin. But when both copies of FXN are abnormal, your body won’t make enough frataxin. That’s a problem because frataxin is needed for making energy in certain cells, especially in your nervous system and heart muscle.
Along with less energy, these changes in frataxin also may cause toxins to build up in some of your cells. You may have too much iron in the mitochondria that power your cells. All of this leads over time to nervous system damage, trouble moving, and other symptoms of FA.
Anyone can get FA if both of their parents carry an abnormal FXN gene. If only one of your parents has an abnormal copy, you won’t have FA. But you could still pass it on to your kids if the other parent carries at least one abnormal copy of FXN, too. About 1 in every 50,000 people in the U.S. have FA.
Symptoms of FA
You’ll notice symptoms most often between ages 5 and 15. But it’s possible to get symptoms earlier or much later.
The first sign is usually trouble with standing, walking, and balance. Doctors call this gait ataxia. Your symptoms will get worse over time. You may also notice new symptoms later that you didn’t have at first.
The major symptoms of FA are:
- Weakened muscles
- Loss of balance
- Loss of coordination
- Loss of reflexes
You may also notice:
- Trouble walking, running, or standing
- Jerking movements you can’t control
- Numbness in your legs, arms, or belly
- Trouble speaking or speaking slowly
- Trouble swallowing
- Tight muscles
- Loss of your hearing
- Loss of your vision
- Your spine may curve (scoliosis)
- Your feet may look deformed
Diagnosis and Testing
Your doctor will examine you or your child for signs of FA. They’ll ask lots of questions. They’ll also check for signs of:
- Trouble with balance
- Loss of feeling in the joints
- Loss of reflexes
- Other signs of a condition affecting your nervous system
If your doctor thinks it might be FA, they’ll order genetic tests to look at your FXN gene. They may also order other tests to see how your heart and nerves are working. These tests may include:
- MRI or CT scans to check your brain and spinal cord
- An electromyogram (EMG) to see how your muscles and nerves are working
- Nerve conduction studies to see how fast your nerve signals travel
- An electrocardiogram (EKG or ECG) and/or echocardiogram to see how your heart is working
- Blood tests to check your blood sugar and vitamin E levels
My Diagnosis Story
By Andrea Garcia, as told to Kendall Morgan
I’m 22 and I live in southern California. I’m in college, majoring in English and Spanish. When I was 3 or 4 years old, my mom started noticing that my back was a little crooked. She noticed I would trip whenever I would try to walk. I have a brother and sister, and whenever we would try to race each other or play around, I would always fall down.
My mom said that was not normal for me. But when she took me to the pediatrician, he thought there was nothing really wrong. I would ask my parents or grandparents to feed or carry me, which is another symptom of FA. The doctor thought I was just spoiled, but my mom wasn’t comfortable with that. She knew there was something wrong.
Later, she took me to a doctor who knew about genetics and he did some tests. The medical students thought it was muscular dystrophy. But the doctor knew it was FA because I could swim a lot. A genetic test confirmed it was FA.
I’ve had FA almost as long as I can remember. I do have little memories of me walking, but that’s me without FA. I can’t walk anymore. After spine surgery and surgery for the tendons in my feet, I think my hand coordination got worse.
My doctor has me do physical therapy or occupational therapy and take a bunch of vitamins. I see a neurologist, physical therapist, speech therapist, and swallowing therapist. I recently got a bone density scan. I see doctors and therapists usually a couple of times a week. My mom’s expertise helps and my FA neurologist would give me everything I needed without any questions.
Early on, we got in contact with the Friedreich’s Ataxia Research Alliance (FARA) and went to an event. I would say that getting involved in the FA community is very important. The people I’ve met through FARA are my best friends. Being surrounded with other people who are going through the same thing as you—it’s great because you don’t feel alone anymore.
Questions for Your Doctor
It’s a good idea to write down questions you have before you see your doctor. That way you won’t forget to ask. Take notes or bring along someone else to take notes for you.
Some good questions to ask when you or your child have FA include:
- How will FA affect my life now and in the future?
- What symptoms or signs should I watch for?
- What should I do if my symptoms get worse?
- Do I need more tests?
- What treatments do you recommend to help with my symptoms?
- How often will I see you?
- Do I need to worry about heart disease, diabetes, or any other health conditions?
- What can I do to stay as healthy as I can with FA?
- Is there an FA support group I could join or other support systems?
- When should I call you?
So far there’s no cure for FA. However, the FDA approved Skyclarys (omaveloxolone) as the first medication to treat the condition. The medication is taken orally once a day.
Your doctors, therapists, and others can help you manage FA’s symptoms. Your treatment may include:
- Braces or surgery to help with scoliosis or foot deformities
- Physical therapy to keep you moving as well as you can
- Speech therapy to help with speaking or swallowing
- Mobility supports to help you get around, such as special shoes, canes, or wheelchairs
- Medicine for pain, if needed
- Treatment for other conditions you may have along with FA, including diabetes and heart conditions
It’s a good idea to work closely with a care team. You’ll benefit from seeing specialists in various areas who can help with different aspects of life with FA.
Taking Care of Yourself
Finding out you have FA is hard. You might not feel like there’s much you can do since there aren’t any approved treatments for the disease. But there’s actually lots you can do to take care of yourself and manage the FA.
One of the most important first steps is to find a doctor who is an expert in FA or other forms of ataxia. You can find resources and lists of doctors who may be in your area online. It will help to find a doctor you trust and can work closely with.
Your doctor should work with you to develop a plan that’s just for you. You may benefit from a plan that includes some combination of the following:
- Speech and language therapy
- Occupational therapy
- Physical therapy
- Medicine to help with common symptoms, including depression, vertigo, fatigue, balance, cramps, neuropathy, stiffness, and tremors
What to Expect
Some people notice symptoms very early in life. For others it happens a lot later. Even though there aren’t treatments for FA, you can still do a lot to limit your symptoms. You may need surgery down the road for scoliosis or foot deformities. Many people with FA also have heart problems or diabetes. Ask your doctor what you can do to lower your risk.
Many people with FA eventually need a wheelchair. But it’s possible to live with FA into old age. Talk to your doctor about what you can do to stay well as long as possible with FA.
It helps to talk to family and friends so they know how you feel and can help. You might also want to look for a support group. Support groups are a good way to meet other people who are facing the same things you are. Some support groups meet in person. Others may be online or through social media.
Ask your doctors about a support group where you live. The National Ataxia Foundation has lots of support groups and meetings every year. But it isn’t specific to Friedreich's ataxia. If you want to find other people with FA, find ways to connect with the Friedreich’s Ataxia Research Alliance (FARA).
How Friedreich’s Ataxia Might Change Over Time
FA is a degenerative condition. This means it usually gets worse over time. But it’s important to remember that FA looks different for each person. What happens to you over time will look different than someone else with FA.
Caring for Your Emotional and Mental Health
Having any kind of rare condition is hard on your emotional and mental health. So if you have FA, it’s not uncommon to deal with difficult emotions and feelings.
If you have difficult feelings or are worried about your mental health, it’s important to let your doctor know. Ask to see a mental health specialist who can help you work through your thoughts and emotions. Remember that depression is a treatable condition. Finding the right support could be the key to getting through this difficult time.
You may need treatment for your mental health along with your physical health. If you aren’t getting the help you need or are in crisis, go to an emergency room or call an emergency hotline for help.
Tips for Living With Friedreich’s Ataxia
Living with FA or any rare and incurable condition is hard. Here are some tips to help you find resources to help.
- A diagnosis of FA is overwhelming for anyone. Give yourself time to express what you feel before moving on to next steps.
- Find a doctor and care team you trust.
- Look for online resources to help you learn all you want to about FA. The Friedreich’s Ataxia Research Alliance is a good place to look online.
- Consider connecting with the FA community, including others with FA and their families.
- Think about joining the FA patient registry if you’d like to get involved with studies to learn more about FA and how to treat it.
- Learn about what you can do for your FA now and what treatments are in testing for the future.
- While there’s no cure for FA, there’s a lot you can do to help with your FA symptoms and get the support you need.