Understanding Friedreich Ataxia
Friedreich ataxia (FA) is a rare genetic condition that changes the way nerves send signals to your muscles. It mainly affects the spinal cord, peripheral nerves, and the cerebellum (the part of the brain that helps with balance and coordination).
In the U.S., about 1 in 50,000 people live with FA (Cleveland Clinic). Symptoms usually begin between ages 5 and 15, but sometimes they don’t show up until later in life.
Researchers have tracked several factors that play a role in what you might experience, including genetic variations, age of onset, and family history.
By understanding the key features of this condition, you can advocate better for yourself or someone you care for.
Watch For Early Symptoms
The first sign for many people is trouble with balance or walking, which doctors call ataxia (Johns Hopkins Medicine). At first, walking may feel a little unsteady, especially on uneven ground.
Over time, other symptoms may appear, such as:
- Weakness in the arms and legs
- Loss of reflexes in the knees and ankles
- Slurred or slow speech
- Tingling or numbness in the hands and feet
As the condition progresses, other problems may develop, including:
- Curved spine (scoliosis)
- Foot changes, like unusually high arches
- Heart disease, often from a thickened heart muscle (hypertrophic cardiomyopathy)
- Diabetes, which develops in about 3 out of 10 people with FA
While these possibilities may sound overwhelming, it is important to remember that each person’s journey unfolds uniquely. Some develop symptoms faster, while for others, progression can be relatively slow.
Early recognition is pivotal for seeking assistive devices (like canes or walkers) and therapies that can maintain mobility longer.
Understanding your symptom timeline can also help you and your care team decide on useful interventions, including physical therapy or orthotics for foot support.
Recognizing Genetic Causes
FA is caused by a change (mutation) in a gene called FXN. This gene normally makes a protein called frataxin, which helps your cells produce energy.
In people with FA, a DNA section called a GAA repeat is much longer than normal. This reduces the amount of frataxin the body can make, and over time, nerve and muscle cells don’t work as well.
FA is passed down in families in an autosomal recessive pattern:
- A person needs two faulty copies of the gene (one from each parent) to develop FA.
- If you only have one faulty copy, you’re a carrier and usually don’t have symptoms.
- When both parents are carriers, each child has a:
- 25% chance of having FA
- 50% chance of being a carrier
- 25% chance of not inheriting the mutation at all
Once diagnosed, you might hear your healthcare team discussing compound heterozygotes (who inherit two different types of mutations in their FXN genes) and homozygotes (who inherit the same mutation from both parents).
People with compound heterozygous mutations may have milder or slower-progressing symptoms. Researchers are constantly exploring how variations in the repeat length influence onset age, progressing speed, and severity of the disease (ThinkFA).
Knowing your genetic profile helps shape a plan for monitoring disease progression and guiding therapies.
To learn more about other nerve-related conditions, check out our articles on nerve compression, sciatica, hip impingement, and carpal tunnel syndrome.
Learn How Diagnosis Works
A solid diagnostic workup for friedreich ataxia usually blends a thorough clinical exam with specific tests. Your healthcare team might begin by checking how well you walk in a straight line, testing your reflexes, and evaluating any loss of sensation in your feet or legs.
Because FA can resemble other nerve or movement disorders, additional tests help confirm the diagnosis. These may include:
- Genetic Testing: Considered the gold standard. It looks for GAA repeat expansions or other FXN mutations.
- Nerve Conduction Studies: These measure how quickly signals move along your nerves. You can read more about how doctors evaluate nerve function in our resource on nerve conduction study.
- Heart Evaluations: Electrocardiograms (ECGs) or echocardiograms help identify hypertrophic cardiomyopathy or arrhythmias that often accompany FA.
- Imaging Scans: Magnetic resonance imaging (MRI) or computed tomography (CT) can visualize changes in the spinal cord or brain regions linked to movement control.
If you have been experiencing numbness or other nerve issues in your feet, you may also wish to read more about ways to recognize and address numbness in feet or consider broader topics related to peripheral neuropathy. While FA is a specific genetic form of neuropathy, many coping strategies overlap with other nerve disorders.
Early detection leads to more targeted interventions, helping you stay on top of potential complications.
Explore Treatment Options
Though there is currently no definitive cure, new treatments and supportive therapies have brought renewed hope.
In 2023, the U.S. Food and Drug Administration approved omaveloxolone (SKYCLARYS) as the first medication specifically for friedreich ataxia, recommended for individuals aged 16 and older (Cleveland Clinic). As of April 2025, it is approved in the U.S., E.U., Canada, the UK, and Brazil for people 16 years of age and older (CureFA).
Clinical trials suggest that SKYCLARYS may help slow the progression of FA symptoms and improve neurological function.
Here is a summary of common management strategies:
- Medication
- Omaveloxolone (SKYCLARYS®), approved in 2023, is the first drug designed specifically for FA. It is now available in the U.S., Europe, Canada, the UK, and Brazil for people 16 and older. Clinical studies show it can slow progression and improve neurological function.
- Physical therapy to maintain strength, flexibility, and balance
- Orthopedic care, including braces or surgery for scoliosis and foot issues
- Cardiac management, often with medications such as beta-blockers or ACE inhibitors
- Diabetes care, using lifestyle changes and medication when needed
- Mobility aids such as canes, walkers, or wheelchairs to preserve independence
- Low-impact exercise, like swimming or cycling, to build stamina while protecting joints
- Counseling and support groups to navigate the emotional impact of a progressive condition
Additionally, assistive devices such as walkers or wheelchairs can help preserve independence once mobility becomes more challenging.
Some people also explore alternative therapies like aquatic exercise (swimming or gentle water aerobics), which can improve endurance without placing stress on the joints or spine.
Connecting with advocacy groups or support communities can help you find adaptive ideas and learn from others’ solutions. Though FA remains a serious condition, you have many avenues for improving quality of life.
Plan Your Daily Support
Whether you are newly diagnosed or have been managing FA for some time, forming a daily support plan can make a significant difference.
Here are ways to keep your routine manageable and meaningful:
- Stay active with gentle, consistent movement and stretching
- Track appointments with specialists to stay on top of changes in mobility, heart health, or blood sugar
- Adapt your environment with grab bars, clear walkways, and accessible storage
- Stay connected with community or online groups for advice and encouragement
- Manage energy wisely by pacing activities and building in time for rest
Staying realistic about your energy and mobility preserves a sense of control. You might also consider working with a nutritionist or physical therapist to refine your day-to-day plan.
Overextending yourself may lead to injuries or setbacks, so being proactive and balanced can keep you in your best shape.
Summarize Your Next Steps
While there is no single path that fits everyone with FA, the overall approach benefits from regular checkups, genetic awareness, and open communication with your care team.
From medication to physical therapy programs, you have many options to explore. Early action often yields the best outcomes, allowing you to slow the progression of symptoms and adapt your lifestyle gradually.
Here is a quick recap of the main points:
- Recognize early symptoms, such as shifts in balance, gait difficulties, and weak limb muscles.
- Understand the genetic basis behind FA, especially the role of GAA repeat expansions.
- Seek an accurate diagnosis through nerve conduction tests, heart evaluations, and genetic screening.
- Consider medication such as SKYCLARYS if you meet the eligibility criteria, and explore physical therapy plus other supportive interventions.
- Build a personalized daily plan, adjusting both your environment and schedule to manage your energy levels and mobility.
Each small action—whether it is scheduling a new therapy session or joining a discussion group—counts toward a more balanced, empowered life.
Seek RELIEF®
RELIEF® is a science-backed treatment that targets dysfunctional fascia, which may contribute to nerve irritation and peripheral neuropathy.
Using a gentle technique called hydrodissection, RELIEF® releases adhered fascia and soft tissue that can press on nerves—helping reduce tingling, burning, numbness, and pain associated with FA and other peripheral neuropathy conditions.1-7
RELIEF® is a minimally invasive alternative to traditional treatments and does not require steroids, long-term medication, surgery, anesthesia, or post-procedure immobilization.
If you’re in the Miami area and seeking relief from peripheral neuropathy, contact us today to schedule a consultation.
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