Does Friedreich Ataxia Cause Diabetes? Tests and Risk

Yes, Friedreich ataxia (FRDA) can cause diabetes ^[1]. While FRDA is primarily known as a neurological condition that affects movement and coordination, it is actually a condition that impacts cellular energy production throughout your entire body. The same genetic changes that cause neurological and cardiac symptoms can also affect how your body processes blood sugar (glucose). Because of this, it is standard for your health care team to order routine diabetes tests as part of your overall care.

It is important to know that while FRDA increases your risk for a specific type of diabetes, people with FRDA can also develop common forms of diabetes (like autoimmune Type 1 or Type 2 diabetes). Any new symptoms require proper evaluation by a doctor to determine the exact cause and the best treatment approach.

Warning Signs: When to Seek Immediate Care

If you have diabetes or are experiencing new symptoms, it is critical to know the signs of a severe, life-threatening complication called diabetic ketoacidosis (DKA). DKA can occur when blood sugar is very high and insulin is very low ^[1].

Seek emergency medical care immediately if you experience:

• Vomiting or an inability to keep fluids down
• Abdominal pain
• Deep or rapid breathing
• Confusion or severe drowsiness
• Fruity-smelling breath
• Marked weakness or severe dehydration

Symptoms like increased thirst, frequent urination, unexplained weight loss, or rapidly worsening fatigue should prompt a timely call to your clinician rather than waiting for your next routine screening.

How Does a Movement Disorder Lead to Diabetes?

The link between FRDA and diabetes comes down to frataxin, a protein that your body produces in lower amounts when you have FRDA ^[2]. Frataxin is essential for the healthy function of your mitochondria, which act as the power plants for your cells ^[2].

When frataxin levels are low, mitochondria may not produce energy normally (often called mitochondrial dysfunction). This creates two major problems for blood sugar control:

• Pancreatic Stress: The beta cells in your pancreas are responsible for making insulin, the hormone that helps your body use glucose for energy. These beta cells are highly vulnerable to the cellular stress caused by low frataxin, which may reduce their ability to produce enough insulin ^[3][4].
• Insulin Resistance: Your body’s tissues may become less responsive to insulin—a condition known as insulin resistance. This can be related to lower mitochondrial energy capacity in the muscles, and sometimes to changes in physical activity due to ataxia symptoms ^[5]. Importantly, developing insulin resistance is a complex biological process and not a result of personal failure or lack of effort.

In FRDA, diabetes can involve a mixed and variable pattern of both reduced insulin production and insulin resistance. The balance differs from person to person, meaning treatment must be individualized ^[5][6].

How Common is Diabetes in FRDA?

Research involving large groups of people with FRDA shows that approximately 7% to 9% of individuals in these specific studies had diabetes ^[1][7]. A higher percentage of people experience impaired glucose tolerance, meaning their blood sugar levels are elevated but not high enough for a diabetes diagnosis ^[8][6].

Certain factors are associated with an increased risk of developing FRDA-related diabetes, including older age, more severe FRDA symptoms, and the presence of cardiomyopathy (disease of the heart muscle) ^[1]. However, these factors do not predict any individual person’s outcome. In uncommon cases, diabetes or DKA can even appear before the neurological symptoms of FRDA are fully recognized ^[9].

Getting Tested: Why the Right Test Matters

Early blood sugar abnormalities often cause no symptoms at all, which is why routine screening is a crucial part of managing FRDA. Often, health care teams will check your fasting blood sugar or order an HbA1c test (which measures your average blood sugar levels over the past few months).

However, studies specifically looking at FRDA have shown that a fasting glucose test alone may miss early signs of blood sugar problems ^[10]. In research settings, an Oral Glucose Tolerance Test (OGTT)—where your blood is drawn before and several times after drinking a sweet liquid—has identified up to 1.2 to 3.5 times as many cases of impaired glucose handling compared to fasting glucose alone ^[10].

If your standard HbA1c or fasting glucose results are normal but your care team remains concerned about symptoms, they may recommend an OGTT or other tests ^[10]. A normal result reflects your current health and does not eliminate future risk, so screening should follow your treating team’s guidance.

What Happens if Testing is Abnormal?

If your tests show impaired glucose tolerance or diabetes, your doctor will work with you to create a personalized care plan. You may be referred to an endocrinologist (a doctor who specializes in hormones and diabetes) or a diabetes educator. Because FRDA can reduce your body’s ability to make insulin, some people will need to take insulin, while others might manage their blood sugar with different medications. Any exercise or activity recommendations will be carefully tailored to be safe for your specific ataxia and heart health.