Friedreich's Ataxia

• Friedreich’s ataxia is a rare medical condition that affects the nervous system.
• Friedreich’s ataxia is caused by a genetic mutation that can be passed on from parents to their children. 
• FA treatment can help manage symptoms and support your daily activities.

Friedreich’s ataxia is a rare genetic condition that affects the nervous system. This causes symptoms such as difficulty walking, coordination issues, and problems with speaking. The symptoms of this condition are progressive, meaning that they get worse over time. Treatment can help you maintain normal daily activities as long as possible. In this guide by Ada’s medical team, you’ll find more information on this condition, its symptoms, diagnosis, and possible treatment options.

Friedreich’s ataxia (FA) is a rare medical condition affecting the nervous system. The condition is genetic, meaning that the gene responsible for the development of the condition can be passed on from parents to their children. Friedreich’s ataxia causes damage to the brain and the nerves, which causes symptoms. This damage increases over time, leading to more severe symptoms. For Friedreich’s ataxia, the age of onset is usually between 5 and 15 years old, although for some people the first symptoms only appear around the age of 25. 1 2

The symptoms of Friedreich’s ataxia affect the nerves and the brain. This leads to issues with coordination, your ability to walk, your muscles and the way you feel things. FA symptoms may include: 1 3 2

• Difficulty with muscle coordination
• Difficulty walking and frequent falling
• Increasing weakness in the legs
• Poor balance
• Loss of sensation of position which usually starts in the arms and legs
• Loss of normal reflexes
• Slowness and slurring of speech
• High muscle tone 
• Curvature of the spine called scoliosis
• Difficulty swallowing 
• Hearing and vision loss
• Feeling tired
• Difficulty breathing and palpitations 4

With FA, these symptoms are known to get worse over time. How quickly the symptoms get worse can be different from person to person. 

If you are experiencing any of the signs of Friedreich’s ataxia, then you should visit your physician. If you have a relative with Friedreich’s ataxia, then it is also recommended to visit your physician. Through genetic testing, you can find out whether the faulty gene responsible for the condition is present in your DNA. This is useful for early detection for yourself, and in order to know whether or not you can pass the gene along to your future children.

Friedreich’s ataxia is a genetic condition. It occurs due to a change, or mutation, in the FXN gene. This gene that can be passed along from parents to their children. If you’ve inherited this mutated gene from both parents, then the condition will develop. If you’ve only inherited it from one parent, then you are a carrier of the condition, meaning that you won’t develop Friedreich’s ataxia, but you can pass it on to your children. With genetic testing for Friedreich’s ataxia, you can find out whether you are a carrier for FA or not. 1 2

A Friedreich’s ataxia diagnosis can be made by a physician. Your physician will ask you questions about your symptoms and your medical history. A physical exam will also be performed in order to assess your balance, sensation, and reflexes. Additionally, some diagnostic tests can help confirm the FA diagnosis or rule out other neurological conditions that could be causing the symptoms: 1 2

• Electromyogram (EMG) 
• Nerve conduction studies 
• Electrocardiogram (ECG)
• Echocardiogram 
• Blood tests
• Magnetic resonance imaging (MRI)
• Computed tomography (CT)

The progression of Friedreich’s ataxia can also be measured using tools such as the Friedreich’s Ataxia Rating Scale (FARS), the modified Freidreich’s Ataxia Rating Scale (mFARS) or the Scale for Assessment and Rate of Ataxia (SARA). 

Friedreich’s ataxia can not be cured. There is however treatment possible to relieve the symptoms and to help Friedreich’s ataxia patients maintain their daily activities as long as possible. 

Friedreich’s ataxia treatment can consist of omaveloxolone, which is the first FDA-approved medication to treat FA. This medication is also known on the market as Skyclarys. Besides that, you can start treatment to improve your symptoms and to treat the complications of FA:  1 5 2

• Physical therapy can help with the function of the arms and legs
• Diabetes can be treated if present
• Heart problems can be treated if present 
• Curvatures in the back called scoliosis can be treated with a brace or surgery 
• Speech therapy can help with speech and swallowing issues
• Hearing aids can help with hearing loss 

Friedreich’s ataxia is still being studied in order to get a better understanding of the condition and to find new treatment options. 

As Friedreich’s ataxia affects the nervous system, it can cause issues with muscle function. As a result of this, a condition called cardiomyopathy can develop. This is a disease of the heart muscle which may lead to certain other conditions such as heart rhythm disorders or heart failure. Another common complication of Friedreich’s ataxia is diabetes. 1

Friedreich’s ataxia is a rare genetic condition which affects the nervous system. It can cause issues with coordination, your ability to use your muscles, and to feel the body's position and movement. Although the condition can not be cured, there are several treatments available which can help improve the symptoms and quality of life of Friedreich’s ataxia patients. 

Q: What are the early signs of Friedreich’s ataxia? 
A: Some of the early signs of Friedreich’s ataxia may include issues with coordination, balance, loss of reflexes, slurred speech, scoliosis, fatigue, hearing, and malformed foot. 
Q: How many people have Friedreich’s ataxia? 
A: Although Friedreich’s ataxia is a rare condition, it is the most common form of inherited ataxia in the U.S. It is estimated that 1 in 50.000 people suffer from the condition worldwide. 

Q: How is Friedreich’s ataxia inherited? 
A: The mutated gene responsible for the development of Friedreich’s ataxia can be passed on from parents to their children. If you have inherited the gene from one parent, then the disease won’t develop, but you will be a carrier, meaning that you can pass the gene along to your children. If you’ve received the gene from both parents, then the condition will develop. 

Q: How is Friedreich’s ataxia diagnosed?
A: Friedreich’s ataxia can be diagnosed after a physician asks you questions about your medical history and the symptoms you’re experiencing. A physical exam is also necessary and can be followed by additional tests such as nerve conduction studies, blood tests, an MRI, CT, EMG or ECG. 

Q: Is Friedreich’s ataxia fatal? 
A: Friedreich’s ataxia prognosis is often not good, as there is no cure for the condition and it causes heart disease, which is the leading cause of death for people with FA. People with less severe Friedreich’s ataxia can have an average life expectancy of 60 and older.