Understanding late-onset Friedreich’s ataxia

Last updated March 14, 2025, by Marisa Wexler, MS
Fact-checked by Inês Martins, PhD

Friedreich’s ataxia (FA) is a rare genetic disorder that affects the nerves and muscles, leading to progressive loss of coordination and muscle control (ataxia) and other symptoms such as impaired speech, skeletal abnormalities, and heart problems. When FA develops after the age of 25, it is known as late-onset Friedreich’s ataxia (LOFA).

FA symptoms usually begin in childhood or adolescence, most often between the ages of 5 and 15, though there have been reports of symptoms starting in people as old as 50.

What is late-onset FA?

FA is usually classified based on the age when symptoms first appear. The classic form begins in childhood or adolescence and is further divided into typical-onset FA (ages 8-14) and intermediate-onset FA (ages 15-24). When symptoms start before age 7, it is called early-onset FA.

LOFA is different from classic and early-onset FA because symptoms don’t appear until later on — it is generally defined as FA with onset after age 25. A rarer subtype called very late-onset Friedreich’s ataxia (VLFOA) is when symptoms first appear after age 40.

Together, LOFA and VLOFA affect about 15% of people with Friedreich’s ataxia.

Compared with forms of FA that develop at a younger age, late-onset disease tends to be milder and progresses at a slower rate, leading to less severe functional impairment over time. For example, people with LOFA may be able to walk for several more years after disease onset compared with those with classical FA.

LOFA life expectancy is also generally longer, though both LOFA progression and life expectancy can vary depending on each person’s situation.

LOFA genetics and diagnosis

FA is caused by mutations in the FXN gene, which provides instructions for making frataxin — a protein essential for helping organelles called mitochondria generate cellular energy.

When frataxin is dysfunctional or absent, as happens in FA, mitochondria become impaired and fail to produce enough energy to properly sustain cells. Nerve and muscle cells require high amounts of energy to function, which makes them particularly susceptible to damage in FA.

The FXN mutation that most often causes LOFA and classic FA is a GAA trinucleotide repeat expansion. The FXN gene normally contains a section where three DNA building blocks — GAA — are repeated several times. But the number of repeats is abnormally high in people with FA, which disrupts frataxin production.

Research suggests people with LOFA have fewer repeats than those with classic FA, which likely explains the later symptom onset and slower progression.

Establishing a LOFA diagnosis is similar to diagnosing earlier-onset disease. A doctor will usually do a thorough physical and neurological evaluation to look for symptoms, followed by genetic testing to confirm the diagnosis.

However, late-onset FA is a rare condition — rarer than the classic form — and can be mistaken for other diseases due to its atypical presentation. Compared with classic FA, it often takes longer to get  a definitive diagnosis of LOFA.

Symptoms of LOFA

Like classic FA, LOFA is a progressive disease — the symptoms start off subtly and gradually worsen over time.

People commonly experience neurological symptoms such as ataxia and muscle stiffness, but many other symptoms that are common in the classic form, such as heart disease, diabetes, and skeletal issues, happen much more rarely and are generally less severe in late-onset FA.

Common symptoms

The most telling symptom of LOFA is a neurological problem called ataxia, where you have difficulty with coordination and balance. Or what many people would describe as being clumsy or seeming drunk.

Other neurological problems and symptoms that commonly occur in LOFA include:

• difficulty with balance and walking
• muscle weakness
• slurred speech
• slowed movements
• stiff limbs (spasticity)
• impaired reflexes
• reduced ability to feel small movements like vibrations
• fatigue and decreased energy levels.

While many of these symptoms are common in LOFA, research suggests that issues such as speech problems, impaired reflexes, and muscle weakness are less likely than with classic FA.

Rare symptoms

In addition to nerve problems, people with LOFA also can experience many of the same nonneurological symptoms that are commonly seen in people with an earlier disease onset.

However, such symptoms are much less common in LOFA, and it’s possible you may never experience them. Some symptoms that are common in FA but are considered rare LOFA signs include:

• heart problems such as cardiomyopathy
• diabetes
• skeletal issues like a sideways curved spine (scoliosis) or high foot arches (pes cavus).

Treatment and management strategies

There is only one disease-modifying therapy approved for the treatment of FA. However, the therapy can only slow the progression of LOFA — it does not halt it — and patients will continue to have symptoms that worsen over time.

Strategies for symptom management are a key part of LOFA treatment and include:

• physical therapy, where a therapist develops a tailored exercise and stretching plan to help improve and maintain physical function
• occupational therapy, which focuses on finding ways to make activities of daily living easier
• speech therapy, which focuses on improving the strength and coordination of muscles around the mouth and throat
• surgery to address specific issues such as foot or spinal deformities
• medications that address specific symptoms (e.g., muscle relaxants for spasticity, insulin to manage diabetes)
• lifestyle changes, such as eating a well-balanced diet or exercising, to support overall health and help with some LOFA symptoms
• assistive devices, ranging from wheelchairs and stairlifts to adaptive utensils and clothing, to make navigating daily life easier.

Living with LOFA

Being diagnosed with LOFA can feel overwhelming, and it’s completely natural to experience stress and frustration while adapting to life with FA.

But there are a wide range of resources for people living with LOFA, including support groups, advocacy organizations, and online sources of information.

Connecting with other people in the FA community, who understand what you’re going through, can be a great way to feel less alone and find ways to cope with the disease.

Stress-reducing practices such as meditation and mindfulness can help if you are struggling with mental health issues. You may also want to consider counseling or talking to a trusted professional who can help you deal with the challenges of living with a rare disease such as LOFA.

Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.