What is Friedreich’s Ataxia?
Friedreich’s Ataxia (FA) is a rare inherited disorder that affects how the nervous system and muscles work together. It’s caused by a gene mutation that lowers the body’s production of frataxin, a protein that helps cells make energy. Without enough frataxin, the nerves that control movement, balance and even the heart start to wear down over time.
Although there’s no cure yet, new treatments — like Skyclarys, the first FDA-approved drug for FA — are offering real hope. Let’s explore the most common signs of this condition and the different ways people can manage it.
10 Common Signs of Friedreich’s Ataxia
Symptoms usually start between ages 5 and 15, but they can appear later in adulthood too. They tend to worsen slowly as the nervous system changes. Here are the 10 signs you should know:
1. Unsteady Walking (Ataxia)
- The earliest and most noticeable symptom.
- People may walk with a wide stance, stumble easily or lose their balance.
- It happens because the nerves that control movement and coordination become damaged.
2. Poor Coordination (Clumsiness)
- Activities that require precision — like writing, typing or buttoning a shirt — become challenging.
- The brain struggles to control fine motor movements due to nerve degeneration.
3. Muscle Weakness
- Muscles, especially in the legs, grow weaker over time.
- Weakness combined with poor coordination can make walking and standing difficult.
- Many people eventually need mobility aids, such as walkers or wheelchairs.
4. Slurred or Slow Speech (Dysarthria)
- Muscles that control speech are affected, making words come out slowly or slurred.
- Speech therapy can help people communicate more clearly and confidently.
5. Loss of Reflexes
- Doctors often notice that knee or ankle reflexes are reduced or missing.
- This happens because the sensory nerves that send signals to the spinal cord are damaged.
6. Foot and Spine Changes
Common structural issues include:
- High-arched feet (pes cavus).
- Curved spine (scoliosis).
These changes can affect posture and balance, sometimes requiring braces or surgery.
7. Heart Problems (Cardiomyopathy)
- The heart muscle can thicken or enlarge, making it harder to pump blood.
- This may lead to chest pain, shortness of breath or irregular heartbeats.
- Regular heart checkups are crucial for monitoring heart health.
8. Vision or Hearing Loss
- The nerves that connect the eyes and ears to the brain can weaken.
- This may cause blurry vision, reduced color clarity, or mild hearing loss.
9. Diabetes or Blood Sugar Imbalance
- FA can interfere with how the body handles sugar, sometimes leading to diabetes.
- Healthy eating and medication can help maintain stable blood sugar levels.
10. Fatigue and Low Energy
- Mitochondria — the “power plants" of cells — don’t make enough energy.
- People with FA often feel tired even after resting, so pacing daily activities is key.
Managing Friedreich’s Ataxia
While FA can’t be cured yet, a combination of treatments, therapies and lifestyle adjustments can help manage symptoms and slow progression. The goal is to support independence, maintain physical strength and protect the heart.
1. Skyclarys (Omaveloxolone)
The most significant breakthrough in FA treatment is Skyclarys (omaveloxolone), the first and only FDA-approved medication specifically for Friedreich’s Ataxia. It works by activating a protein called Nrf2, which helps reduce oxidative stress and improve energy production in cells. In clinical studies it showed improvement in coordination, balance and overall function.
One oral capsule is taken daily. It targets the root cause of energy loss in FA, not just the symptoms, marking a major step forward for patients and families.
2. Physical Therapy
Regular exercise tailored to the individual’s abilities helps maintain muscle strength and flexibility. Stretching and balance exercises can reduce stiffness and delay loss of mobility. A physical therapist can create a safe plan to build endurance without overexertion.
3. Occupational Therapy
Occupational therapists help people adapt their daily routines to stay independent. They can recommend adaptive tools for writing, eating or dressing, and teach strategies for conserving energy throughout the day.
4. Speech Therapy
When speech becomes difficult, therapy can strengthen the muscles used for talking and swallowing. Therapists may also introduce communication aids or apps to make conversations easier.
5. Heart Care
Since heart problems are common in FA, regular checkups with a cardiologist are essential. Doctors may prescribe medications to control heartbeat or prevent thickening of the heart walls. Maintaining a heart-healthy lifestyle — like avoiding smoking and eating balanced meals — also helps.
6. Managing Blood Sugar
If diabetes develops, managing blood sugar through diet, medication and routine monitoring is key. Eating smaller, balanced meals and staying active can prevent spikes in blood sugar and boost overall energy.
7. Emotional and Social Support
Living with FA can be overwhelming, but mental health is just as important as physical health. Talking to a counselor, joining a support group or connecting with organizations like the Friedreich’s Ataxia Research Alliance (FARA) can help families feel supported and hopeful.
Living with Friedreich’s Ataxia
Though Friedreich’s Ataxia is a lifelong condition, treatments like Skyclarys and ongoing research are changing the outlook for patients. With medical care, physical and emotional support and adaptive therapies, people with FA can live active, meaningful lives.
Staying informed, maintaining a positive mindset and seeking the right care can help individuals manage symptoms and embrace each day with strength and resilience.