5 Conditions Related to Friedreich Ataxia: Risks and What To Watch For

Friedreich ataxia is a neurodegenerative genetic disorder that affects the nerves and other parts of the body. It is sometimes abbreviated as FA or FRDA. Friedreich ataxia can also lead to other health problems.

If you or your child has Friedreich ataxia and other health issues, it’s important to work with a team of specialists. Together, you can create a care plan that fits your needs and helps manage all of these conditions.

Friedreich ataxia affects people in different ways. Although Friedreich ataxia gets worse over time, people may live into their 60s or beyond. But some related conditions can affect life expectancy, especially if they go undetected or untreated. Staying in close contact with your care team can help catch and treat related conditions early.

Knowing the signs of common conditions linked to Friedreich ataxia can help you spot them sooner.

In this article, we’ll discuss five of the most common related conditions, signs to watch for, and factors that can raise risk.

1. Heart Disease

Heart disease is the most common feature of Friedreich ataxia and a major cause of early death. Almost all people with Friedreich ataxia have some form of heart abnormality, which doctors can detect using an electrocardiogram (ECG) or echocardiogram (ultrasound imaging of the heart).

The most common heart condition in adults with Friedreich ataxia is hypertrophic cardiomyopathy (HCM), which affects up to 85 percent of people. In people with HCM, the heart muscle thickens, which makes it harder for the heart to pump blood. HCM doesn’t always cause symptoms, so a person may not realize they have it until it shows up in heart test results.

People with Friedreich ataxia also have a higher risk of other heart problems, including arrhythmias (abnormal heart rhythm) and heart failure. Friedreich ataxia can damage the nerves in the heart over time, which affects how the heart works.

Signs of Heart Disease

Symptoms of heart disease in Friedreich ataxia can be mild or look like general Friedreich ataxia symptoms. A person with Friedreich ataxia should tell their doctor if they notice possible symptoms of heart disease, including:

• Chest pain
• Heart palpitations
• Shortness of breath
• Trouble being active or exercising

Risk Factors for Heart Disease in Friedreich Ataxia

Being diagnosed with Friedreich ataxia before age 18 raises the risk of developing heart disease. People diagnosed with Friedreich ataxia as adults are at a lower risk of cardiomyopathy, and their heart disease is less likely to progress to heart failure. Heart problems do not seem to be linked to how severe a person’s Friedreich ataxia symptoms are.

2. Diabetes

Diabetes affects about 30 percent of people with Friedreich ataxia. Diabetes develops because Friedreich ataxia can damage cells in the pancreas that produce insulin, a hormone that regulates blood sugar. When a person doesn’t have enough insulin to manage blood sugar, or if their insulin doesn’t work properly, they can develop high blood sugar. Over time, high blood sugar can lead to diabetes.

People with Friedreich ataxia who develop diabetes may need to check their blood sugar levels with a continuous glucose monitor (CGM). They may also need to take insulin to control blood sugar if the pancreas is not making enough insulin.

Signs of Diabetes

Doctors encourage people with Friedreich ataxia and their caregivers to learn the symptoms of diabetes. People with Friedreich ataxia should also get yearly screening blood tests to check for signs of diabetes, including a fasting blood glucose test.

Signs of diabetes can include:

• Always feeling thirsty
• Frequent urination
• Mood changes and irritability
• Blurry vision
• Fatigue or weakness
• Getting infections often, including gum disease (periodontal disease) and skin infections

Risk Factors for Diabetes in Friedreich Ataxia

The likelihood of diabetes increases with age, especially in people with late-onset Friedreich ataxia. People with Friedreich ataxia are also more likely to develop diabetes or insulin resistance if they have a high body mass index (BMI). This is a calculation of a person’s weight relative to their height.

3. Sleep Apnea

Friedreich ataxia is linked to a higher risk of obstructive sleep apnea (OSA). OSA causes repeated pauses in breathing during sleep. This can disturb sleep, lower oxygen levels in the blood and brain, and cause severe daytime tiredness. Research shows that about 21 percent of people with Friedreich ataxia have OSA, which is a higher rate than in the general population.

Some doctors believe OSA may develop because weaker muscles around the airway can cause it to collapse and block airflow during sleep. People with Friedreich ataxia can develop other breathing issues, including reduced lung capacity, which means the lungs cannot hold as much air as usual.

Signs of Sleep Apnea

Although OSA affects a person’s breathing as they sleep, symptoms during the day can point to impaired breathing at night. Beyond pauses in breathing, a caregiver might notice while a person with Friedreich ataxia sleeps, OSA can cause:

• Headaches in the morning
• Tiredness
• Trouble concentrating
• High blood pressure
• A dry mouth in the morning

4. Scoliosis

More than half of people with Friedreich ataxia have scoliosis, which is an abnormal spinal curvature. The spine curves to the side, and the curvature can get worse with age. Scoliosis develops because of muscle weakness and nervous system problems in the back. For some people, severe scoliosis can cause the spine to press on the lungs and cause breathing problems.

Some people may be diagnosed with scoliosis long before being diagnosed with Friedreich ataxia. Many people with Friedreich ataxia end up needing surgery for scoliosis, but nonsurgical treatments like physical therapy or a back brace may be enough to help stabilize the spine.

Scoliosis isn’t the only orthopedic condition that can develop with Friedreich ataxia. Foot deformities like pes cavus, or unusually high arches in the feet, affect about one-third of people with early-onset Friedreich ataxia.

Signs of Scoliosis

Caregivers may notice signs of scoliosis in a person with Friedreich ataxia before the person notices anything. Scoliosis can change a person’s posture and may cause:

• Uneven shoulders
• Uneven hips
• One shoulder blade that looks larger or more pronounced than the other
• Ribs that stick out

5. Depression

Having any long-term health condition increases the risk of depression, and Friedreich ataxia is no exception. Doctors aren’t sure whether depression is caused directly by Friedreich ataxia or by the challenges of living with a long-term condition.

A person with Friedreich ataxia can develop depression at any stage, including in childhood. Between 14 percent and 36 percent of people with Friedreich ataxia meet the criteria for a depression diagnosis, but up to 92 percent have some type of mood-related symptom.

Mental health is as important as physical health, and mental health care should be included in a person’s Friedreich ataxia treatment plan. Therapy and/or medications can help address depression as well as other mental health conditions, such as anxiety or psychosis.

Signs of Depression

Research suggests that depression may be more severe in people with Friedreich ataxia than in those with depression alone. Depression can affect people in different ways, but some of the most common symptoms are:

• Sadness
• Hopelessness
• Low energy
• Fatigue
• Irritability
• Changes in sleep or appetite

Talk to Your Doctor

Let your healthcare provider know if you notice any new or worsening symptoms that might indicate conditions related to Friedreich ataxia. They can connect families with resources to address these issues and help their loved one feel their best.

Join the Conversation

On MyAtaxiaTeam, people share their experiences with ataxia, get advice, and find support from others who understand.

Do you or your child have any co-occurring conditions with Friedreich ataxia? Let others know in the comments below.