Friedreich’s Ataxia (FA)
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What is Friedreich’s ataxia (FA)?
Friedreich’s ataxia (also called FA or FDRA) is a rare genetic condition that causes progressive nervous system damage and movement issues. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that becomes worse over time. It’s a degenerative disease.
Friedreich’s ataxia also often leads to:
- Speech, hearing and vision issues.
- Balance issues.
- Heart disease, especially hypertrophic cardiomyopathy.
- Scoliosis and/or foot deformities.
This condition doesn’t affect thinking and reasoning abilities (cognitive functions).
About 25% of people with Friedreich’s ataxia develop symptoms after the age of 25. This is considered late-onset Friedreich’s ataxia (LOFA). When signs and symptoms start after age 40, it’s called very late-onset Friedreich’s ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical FA.
Friedreich’s ataxia is named after Nikolaus Friedreich, a pathologist who first described the condition in 1863.
Who does Friedreich’s ataxia affect?
A genetic mutation causes Friedreich’s ataxia. Anyone can inherit the condition if both of their biological parents carry a copy of the FXN gene mutation and pass that on to their child.
The first symptoms of Friedreich’s ataxia usually begin in childhood and progress throughout your life, though people can first develop symptoms as an adult. It affects people assigned female at birth (AFAB) and children assigned male at birth (AMAB) equally.
Friedreich’s ataxia most commonly affects people with the following ancestries:
- Middle Eastern.
- South Asian.
- North African.
How common is Friedreich’s ataxia?
While FA is the most common form of hereditary ataxia, it’s generally rare. FA affects approximately 1 in every 50,000 people in the United States. Globally, it affects 1 in every 40,000 people.
How does Friedreich’s ataxia (FA) affect my child’s body?
Friedreich’s ataxia is a genetic (inherited) condition that results in a deficiency of an essential protein called frataxin. This deficiency can affect several aspects of your child’s body, including their:
- Nervous system and muscles.
- Skeletal system.
It’s important to remember that FA affects everyone differently and at different rates of progression.
FA’s effect on your nervous system and muscles
A deficiency of frataxin causes nerve fibers in your child’s spinal cord and peripheral nerves to degenerate (become damaged). Your peripheral nervous system consists of nerves that carry information from different areas of your body back to your brain, like a message that your hand is warm. It also carries commands from your brain to various parts of your body, like a message to your muscles to move your legs.
Your cerebellum, the part of your brain that coordinates balance and movement, also degenerates in Friedreich’s ataxia, but usually to a lesser extent. This damage results in unsteady movements and impaired sensory functions.
Due to this nerve degeneration, people with FA experience a gradual loss of strength and sensation in their arms and legs; difficulty with balance; and impaired speech, hearing and vision. People with FA typically require mobility aids, such as a wheelchair, about 10 years after signs and symptoms first appear.
FA’s effect on your heart
A lack of frataxin causes issues with the muscles and nerves in your heart, which can cause several different heart conditions. Approximately 75% of people with FA develop heart issues — most commonly, cardiac neuropathy, hypertrophic cardiomyopathy and irregular heartbeat.
Other cardiac complications that can result from FA include:
- Myocarditis (inflammation of your heart muscle).
- Myocardial fibrosis (scarring in your heart muscle).
- Cardiomegaly (enlarged heart).
- Congestive heart failure caused by dilated or hypertrophic cardiomyopathy.
- Tachycardia (fast heart rate).
- Atrial fibrillation (irregular heart rhythm).
- Heart block.
FA’s effect on your skeletal system
Certain skeletal issues are common in people with FA. These typically happen because some of your child’s muscles have weakened while others have remained strong, pulling your child’s bones into abnormal positions.
About two-thirds of people with FA develop scoliosis (curvature of their spine), which can be painful and interfere with breathing by changing the shape of your child’s chest cavity.
Many people with FA experience inversion (inward turning) of their feet, and a little over half have pes cavus (a shortened foot with a high arch).
FA’s effect on your pancreas
FA can cause damage to the cells in your pancreas that make the hormone insulin, which is essential for maintaining healthy blood glucose (sugar) levels. Without adequate amounts of insulin, your blood sugar levels increase, resulting in hyperglycemia, which can lead to diabetes. Approximately 30% of people with FA develop diabetes.
Is Friedreich's ataxia a terminal illness?
Friedreich’s ataxia affects everyone differently and progresses at different speeds.
Heart disease, specifically hypertrophic cardiomyopathy (enlarged heart muscle), is the most common cause of death in people with FA. Some people with more severe forms of FA die from the condition by early adulthood, while others with more mild forms of FA live into their 60s or beyond.
Symptoms and Causes
What are the symptoms of Friedreich’s ataxia?
Symptoms of Friedreich’s ataxia usually begin between the ages of 5 and 15, but some people with FA have experienced symptoms starting as young as 2 years old and as old as 50.
The first neurological symptom to appear is usually difficulty standing and walking and poor balance (gait ataxia).
Over time, the existing symptoms progressively worsen and new symptoms can develop.
FA’s major neurological symptoms include:
- Muscle weakness.
- Impaired balance and coordination (ataxia).
- Loss of touch (tactile) sensation (peripheral neuropathy).
- Impaired reflexes.
These symptoms can present as:
- Difficulty standing, walking and/or running.
- Involuntary jerking movements (chorea).
- A loss of sensation that starts in your legs and spreads to your arms and abdomen.
- Slow or slurred speech (dysarthria).
- Difficulty swallowing (dysphagia).
- Muscle tightness (spasticity).
- Hearing loss.
- Vision loss.
- Scoliosis (curvature of your spine) and or/foot deformities.
What causes Friedreich’s ataxia?
A mutation (error) in the FXN gene, which carries the genetic code for an essential protein called frataxin, causes Friedreich’s ataxia.
Frataxin is a protein that’s found in the energy-producing parts of the cells in your body called mitochondria. Although scientists don’t fully understand its role, frataxin is important for the normal function of mitochondria. The gene mutation that causes FA greatly disrupts the normal production of frataxin.
Without a normal level of frataxin, certain cells in your body, especially cells in your peripheral nerves, spinal cord, brain and heart muscle, produce energy less effectively and create a buildup of toxic byproducts. This damages your cells.
People who inherit two mutated copies of this gene, one from each biological parent, will develop Friedreich’s ataxia. This is known as an autosomal recessive pattern.
The biological parents of a person with an autosomal recessive condition each carry one copy of the mutated gene, but they typically don’t show signs and symptoms of the condition.
Diagnosis and Tests
How is Friedreich’s ataxia diagnosed?
Diagnosis of Friedreich’s ataxia begins with a careful clinical examination that includes a medical history and a thorough physical and neurological exam. During the physical exam, your child’s healthcare provider will look for:
- Difficulty with balance.
- Loss of joint sensation (proprioception).
- Loss of reflexes.
- Other signs of neurological problems.
Your child’s healthcare provider will then order genetic testing, which can confirm the diagnosis. They may order additional tests to aid in the diagnosis.
What tests will be done to diagnose Friedreich’s ataxia?
Genetic testing is the main test that can confirm Friedreich’s ataxia. Your child’s healthcare provider may order other tests to help in the diagnosis and/or to assess areas of their body that may be affected by FA. These tests include:
- Magnetic resonance imaging (MRI) or computed tomography (CT) scans: These tests provide images of your child’s brain and spinal cord, which your child’s healthcare provider can use to help rule out other neurological conditions.
- Electromyogram (EMG): This test measures how your child’s muscles and nerves work.
- Nerve conduction studies: These tests measure the speed with which nerves transmit impulses.
- Electrocardiogram (EKG or ECG): This test gives a visual representation of the electrical activity, or beat pattern, of your child’s heart.
- Echocardiogram: This test provides a graphic outline of your child’s heart’s movement.
- Blood tests: Your child’s healthcare provider may order certain blood tests to check for elevated blood glucose (sugar) levels and vitamin E levels.
Management and Treatment
How is Friedreich’s ataxia treated?
As with many degenerative diseases of the nervous system, there’s currently no effective treatment for Friedreich’s ataxia. The main goal of therapy is to treat the symptoms and complications caused by FA to maintain optimal functioning for as long as possible.
This kind of therapy may include:
- Physical therapy to prolong muscle function and improve coordination, balance, strength and stabilization.
- Speech therapy to help re-train your child’s tongue and facial muscles to improve speech and swallowing.
- Corrective braces or surgery for orthopaedic issues, such as foot deformities and scoliosis.
- Medication for certain heart conditions, if present.
- Medication for diabetes, if present.
- Medication for pain management.
- Antibiotics to prevent or treat infections.
- Mobility support devices, such as orthopaedic shoes, canes and wheelchairs.
- Heart transplantation for people who have milder forms of FA but significant cardiomyopathy.
Friedreich’s ataxia affects everyone differently and at different rates. Your child’s healthcare team will develop an individualized plan for therapy that will change and adapt as your child grows.
What kinds of healthcare providers treat Friedreich’s ataxia?
If you or your child have Friedreich’s ataxia, you’ll have a team of healthcare specialists to help manage the condition. These specialists may include:
- Pediatric or adult neurologist.
- Medical and biochemical geneticist.
- Physical therapist.
- Speech-language pathologist.
- Occupational therapist.
- Orthopaedic surgeon.
How can I reduce my risk of having a child diagnosed with Friedreich’s ataxia?
As Friedreich’s ataxia is the result of a genetic mutation inherited from both biological parents, there’s no way to prevent it from occurring. If you plan on having a biological child, talk with your healthcare provider about genetic testing to understand your risk of having a child with a genetic condition like Friedrich’s ataxia.
Outlook / Prognosis
What can I expect if my child or I have Friedreich’s ataxia?
It’s important to remember that no two people with Friedreich’s ataxia are affected in the same way. It’s impossible to predict with certainty how you or your child will be affected. The best way you can prepare for the future is to talk to healthcare providers who specialize in researching and treating Friedreich’s ataxia.
What is the life expectancy of someone with Friedreich’s ataxia?
As Friedreich’s ataxia is a degenerative condition and worsens over time, people with FA tend to have a shorter life expectancy than the average population.
FA affects everyone differently. Many people with FA live until at least their 30s, and some can live into their 60s or beyond.
How do I take care of myself or someone with Friedreich’s ataxia?
If you have Friedreich’s ataxia, it’s essential to ensure you’re getting quality medical care to prevent or treat complications of FA, such as heart disease or diabetes. You may also want to consider joining a support group to meet others who can relate to your experiences.
If you’re taking care of someone with FA, it’s important to advocate for them to ensure they get the best medical care and access to mobility devices and therapy that can help them be more independent.
When should I see my healthcare provider Friedreich’s ataxia?
If you or your child have been diagnosed with Friedreich’s ataxia, you’ll need to see your team of healthcare providers regularly to receive treatment and monitor symptoms.
A note from Cleveland Clinic
Understanding your or your child’s Friedreich’s ataxia (FA) diagnosis can be overwhelming. Your healthcare team will offer a robust treatment plan that’s unique to you or your child’s symptoms. It’s important to make sure you or your child are getting the love and support you/they need throughout your/their life and stay attentive to your/their health to address any new symptoms that arise.
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