What Is Friedreich's Ataxia?

Friedreich's ataxia is a rare disease that affects your central nervous system. It impacts your spinal cord and the nerves that transmit and receive messages between your brain and the rest of your body. It also affects your cerebellum, the part of your brain that controls movement and balance.

This disease causes gradual muscle stiffness and loss of strength and feeling in your limbs. Speech, hearing, and vision are also affected. Many people with this disease need a cane, walker, wheelchair, or another type of mobility assistive device as symptoms worsen over time.

People get this disease from their parents. Symptoms usually begin in the mid-teens. There is no cure or single approved treatment for this problem.

This article describes Friedreich's ataxia symptoms, causes, diagnosis, and treatment.

Types of Friedreich's Ataxia

Friedreich's ataxia is the most common form of ataxia, a group of degenerative diseases affecting the central nervous system. It affects about 1 in every 50,000 people in the United States.

While the majority of people with Friedreich's ataxia experience similar symptoms, the rate and type of progression can vary. Some people have the following subtypes of the disease:

• Late-onset Friedreich's ataxia (LOFA)/Very late-onset Friedreich's ataxia (VLOFA): While most people are diagnosed with the disease before age 25, some people are diagnosed later due to slower disease progression. The average age of onset for people with late-onset Friedreich's ataxia (LOFA) is between 26 and 39 years, while onset for people with very late-onset Friedreich's ataxia (VLOFA) occurs after 40 years. Individuals with late-onset Friedreich's ataxia (LOFA) and very late-onset Friedreich's ataxia (VLOFA) represent about 15% of all people with Friedreich's ataxia.
• Friedreich's ataxia with retained reflexes (FARR): About 12% of people with Friedreich's ataxia have Friedreich's ataxia with retained reflexes (FARR). With this subtype of the disease, tendon reflexes can remain intact for as long as 10 years after the onset of symptoms. This delayed progression of symptoms often occurs in patients with LOFA or VLOFA.
  

Friedreich's Ataxia Symptoms

Friedreich's ataxia symptoms begin in most people between the ages of 5 and 15 years. In the early stages of the disease, symptoms mimic signs of being drunk, though the disease does not affect the part of the brain that controls thinking and learning. Early symptoms include the following:

• Difficulty walking
• Gait ataxia (poor balance likened to dizziness)
• Dysarthria (difficulty speaking)

As the disease progresses, it causes degenerative changes in the sensory nerve fibers where the fibers enter the spinal cord. This results in an interruption of sensory signals to the cerebellum, the part of the brain that controls voluntary movements.

Since the disease progresses at different rates, symptoms worsen at different speeds. Common symptoms of disease progression include:

• Loss of coordination in the arms and legs, eventually spreading to the torso
• Spasticity (muscle stiffness)
• Fatigue
• Difficulty swallowing
• Chest pain
• Reduced or absent reflexes
• Scanning speech (pausing between words and pronouncing words slowly)
• Hearing loss
• Vision loss

As Friedreich's ataxia worsens, its impact can also trigger the following physical disorders:

• Scoliosis (abnormal curvature of the spine)
• Hypertrophic cardiomyopathy (thickening of the heart muscle)
• Heart failure
• Tachycardia (heartbeat over 100 a minute)
• Carbohydrate intolerance
• Diabetes
• Foot deformities
  

What Triggers Friedreich's Ataxia?

Friedreich's ataxia is an autosomal recessive disorder caused by a defect in the FXN gene. This means that people who have this condition inherit a mutation from each parent, so both copies of their FXN gene are defective.

When you inherit a normal and abnormal gene, you won't have symptoms but will be a carrier of Friedreich's ataxia. The risk of disease is the same for both males and females.

A defect in the FXN gene limits the production of frataxin. This protein is important to the energy-producing properties of the cell. The defect results in the degeneration of certain nerve cells, or neurons, which triggers symptoms of the disease.

Diagnosis

Your healthcare provider may suspect that you have Friedreich's ataxia based on a complete physical examination and family history. Symptoms related to balance difficulty, loss of joint sensation, absence of reflexes, and other signs of neurological problems, may indicate the presence of this disease.

The following tests may be used to confirm a diagnosis of Friedreich's ataxia:

• Electromyography (EMG) and nerve conduction studies (NC) use electrodes to measure the electrical activity of muscle cells to locate, diagnose, and assess damage to your muscles and nerves.
• Electrocardiogram (also called EKG or ECG), gives a graphic presentation called a tracing of your heart's electrical activity or beat pattern.
• Echocardiogram is an ultrasound used to visualize and record the position and motion of your heart muscle.
• Blood tests can check for elevated glucose levels, vitamin E levels, and other chemical imbalances that might indicate other diseases.
• Imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, provide brain and spinal cord images that are useful for ruling out other neurological conditions.
• Genetic testing using polymerase chain reaction (PCR) can confirm mutations in the FXN gene.
  

Treatment

Friedreich's ataxia is an incurable disease. Current treatments for this condition are geared toward symptom management and maintaining the use of your arms and legs as long as possible.

Continuous medical supervision can help you identify and manage potential problems with your heart, spine, muscles, feet, vision, and hearing. A multidisciplinary approach involving the following specialists is advised for managing Friedreich's ataxia:

• Neurologist (medical doctor specializing in brain and nervous system disorders)
• Ophthalmologist (medical doctor specializing in conditions of the eye)
• Orthopedic surgeon (medical doctor specializing in conditions of the musculoskeletal system)
• Occupational therapist (rehabilitation professionals who help patients manage everyday activities)
• Physical therapist (rehabilitation professionals who help patients improve movement and manage pain)
• Speech-language pathologist (medical professionals who help people with speech and language difficulties)
  

Depending on your symptoms and the rate of disease progression with Friedreich's ataxia, you may benefit from one or more of the following therapies:

• Orthopedic surgical and nonsurgical interventions to correct foot abnormalities
• Scoliosis surgery, such as spinal fusion to correct scoliosis
• Medication for heart problems and/or diabetes
• Medications to control heart rate and prevent cardiac failure
• Dietary and lifestyle modifications, insulin, and/or oral hypoglycemic medications to control diabetes
• Drugs and/or corrective devices to counter vision and hearing problems
• Psychotherapy to manage emotional aspects of the disease
• Mobility assistive devices such as a walker, cane, scooter, and/or wheelchair provide support, so you can move independently
  

Prognosis

Since Friedreich's ataxia doesn't affect cognitive ability, most people who have this disease can live full and rewarding lives. Females whose symptoms begin after 20 years of age may have the most favorable prognosis.

Most people with Friedreich's ataxia use a wheelchair within 10 to 20 years after their first symptoms occur. it is possible to become completely debilitated in the later stages of the disease.

People with Friedreich's ataxia can have a shortened life expectancy. However, heart disease is the most common cause of death, which occurs as a complication of Friedreich's ataxia.

Death can occur from aspiration pneumonia, stroke, or cardiac problems. People with the following characteristics usually have the worst prognosis:

• Diabetes
• Dilated cardiomyopathy
• Cardiac disease
• Early disease onset

Coping

The course of Friedreich's ataxia varies from person to person. The disease progresses over time, though the rate at which it worsens is not the same for everyone. Treatments can help control symptoms and manage the condition for as long as possible.

Your primary healthcare provider can help you identify the services you may need from your multidisciplinary team.

Ongoing research on Friedreich's ataxia aims to develop treatments for this disease. Studies are geared toward determining the cause of the FXN gene mutation and its function.

Summary

Friedreich's ataxia is a genetic disease that causes a loss of movement and muscle control. It occurs when you receive a damaged FXN gene from both parents.

This disease harms the nerves that talk to your brain about the rest of your body. While it affects the part of your brain that controls movement and balance, this illness does not cause mental problems.

Symptoms worsen over time, though they don't progress at the same rate in everyone. It is common to need a wheelchair within 10 to 20 years after the onset of symptoms.

While most people have symptoms that begin in their early to mid-teens, the onset of this disease can occur into the 40s and beyond. Females who have late-onset of symptoms tend to have the best prognosis.

A Word From Verywell

Getting a diagnosis of Friedreich's ataxia can be overwhelming. While it progresses at different rates in everyone, the condition causes a gradual loss of movement and the ability to move freely without assistance.

While there is no cure for Friedreich's ataxia, there is much you can do to improve your condition. Working closely with your multidisciplinary healthcare team can help identify changes and begin interventions as early as possible to achieve the best results.

Addressing the emotional aspects of this disease can make a difference in coping with it. Consider speaking to a mental health professional to address feelings of frustration and despair that can be common with this or any chronic condition. Connecting with others who have this or other forms of ataxia in person or online can help you avoid feeling isolated in your challenges.