Friedreich’s ataxia is often referred to as FA. It is a rare, inherited neurodegenerative disease. It affects the nerves, spinal cord, and a part of the brain called the cerebellum. FA causes a slow, continued loss of muscle coordination and balance, called ataxia. It also affects speech and causes weakness and loss of sensation. Over time FA can affect heart function.
FA occurs in about 1 of 50,000 people and affects both males and females.
Cause of Friedreich’s ataxia
Friedreich’s ataxia is inherited. That means it is passed from parent to child. It is caused by changes in a gene called FXN that creates a protein called Frataxin. Frataxin helps cells to produce energy. When a person has FA, their body produces less frataxin. Doctors can find this gene change with a genetic test.
Signs and symptoms of Friedreich’s ataxia
The symptoms of FA usually begin when a person is between 5 and 15 years old. In some cases, symptoms can develop later in life. If symptoms begin in childhood, the disease usually develops more quickly. Symptoms usually begin in the legs and then move to the trunk and arms.
Your child may have some or all these symptoms:
- Difficulty walking and poor balance
- Slowness and slurring of speech
- Scoliosis, a curve of the spine
- Weakness in legs and hands
- Mild to severe heart problems
- Hearing loss
- Changes in vision
People with FA often need assistive devices such as walkers, wheelchairs, or scooters to stand or move. They may also have issues with their heart, spine, hearing, eyesight, and bladder.
Friedreich’s ataxia does not seem to affect the part of the brain that controls thinking and learning.
How Friedreich’s ataxia is diagnosed
Your health care provider does a detailed exam to find out if your child has FA. They take a medical history and do a neurological exam. Your provider looks for balance problems, reduced joint sensation, slow reflexes, and signs of any nerve issues. Other tests may include:
- Electromyogram: Measures the electrical activity of muscle cells
- Nerve conduction test: Measures how quickly nerves send messages
- Blood tests
- Tests and images of your child’s heart
- Imaging tests such as MRIs or CT scans
- Genetic test to find the gene that causes this disease
How Friedreich’s ataxia is treated
FA currently has no cure or FDA-approved treatment. But your health care team can help your child manage symptoms and use their arms and legs for as long as possible.
Your child needs regular follow-up with their health care team. This team likely includes a neurologist, cardiologist, and endocrinologist. If your child has scoliosis, they may need follow-up by an orthopedic surgeon.
Other members of the care team may include:
- A physical therapist to help create an exercise plan and monitor range of motion.
- An occupational therapist to help with assistive devices and communication aids. They can also help you organize your home to identify and remove risks.
Researchers are looking at treatments for FA. Some are directed at the gene problem itself. Some medications have shown promise. Talk to your care team about these treatments. You can also talk to your care team if you would like to take part in a research study.
Live well with Friedreich’s ataxia
Like other neurodegenerative conditions, FA progresses over time. The way it develops is different for each person. Your health care team helps your child maintain function and limit symptoms as much as possible. They help decide the best treatments to maintain quality of life as the disease affects your child’s body. It is very important to watch for heart problems or diabetes.
Friedreich’s ataxia does not affect the part of the brain that controls thinking, learning, and cognition, but is important to monitor for symptoms of depression. Many people live full and rewarding lives with this disease.
Why choose St. Jude for your child’s Friedreich’s ataxia treatment?
- We have expanded our focus on neurologic disorders by creating the Center for Experimental Neurotherapeutics. The center focuses on research and treatment of pediatric neurologic disorders.
- Richard S. Finkel, MD, leads the Center for Experimental Neurotherapeutics. He has 30 years of experience researching and treating Friedreichs ataxia and other neurologic disorders.
- St. Jude has a close relationship with two other Memphis institutions, Le Bonheur Children's Hospital and the University of Tennessee Health Science Center. We are partnering to create a Neuroscience Research Consortium. This group investigates treatments for children with severe neuromuscular diseases and other neurologic disorders.
- St. Jude is one of 6 sites that make up the Pediatric Neuromuscular Clinical Research Network. These sites work together to expand treatments, increase clinical trials, and promote newborn screening.
The St. Jude website is designed for educational purposes only and is not engaged in rendering medical advice or professional services. The information provided through this site should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. If you have or suspect you may have a health problem, you should consult your health care provider.