What to Look For and How It’s Treated
Friedreich’s ataxia (FA) is a rare, inherited disease that affects the nervous system and muscles. It usually begins in childhood or adolescence and slowly worsens over time. While there is no cure yet, medical treatments like Skyclarys (omaveloxolone) have brought new hope. These treatments help manage symptoms, improve mobility and slow progression, making everyday life easier for those living with FA. Recognizing the symptoms allows for earlier diagnosis, proper care and access to therapies that support a better quality of life. Here are 10 signs of Friedreich’s ataxia to know.
Common Signs to Watch For
1. Unsteady Walking (Ataxia)
The earliest and most noticeable sign of Friedreich’s ataxia is unsteady or clumsy walking. People may stumble frequently or appear off balance, especially in dark or uneven areas. This happens because FA damages the nerves in the spinal cord that coordinate movement. Over time, walking becomes more difficult, and many people eventually use a wheelchair.
2. Poor Coordination in Hands and Arms
Along with unsteady walking, fine motor skills—like writing, buttoning clothes or picking up small objects—can become challenging. This loss of coordination, known as ataxia of the limbs, can make daily tasks harder and sometimes frustrating.
3. Slurred or Slow Speech
As the disease affects the muscles used for speech, many people with FA develop dysarthria, or slurred speech. Words may come out slower or less clearly, which can sometimes be mistaken for fatigue or shyness. Speech therapy can help maintain communication skills for as long as possible.
4. Muscle Weakness
Because FA impacts both the brain and spinal cord, muscle strength gradually decreases. Weakness usually starts in the legs and moves upward. As muscles weaken, standing, walking and lifting objects become harder. Regular physical therapy and gentle exercise can help maintain strength.
5. Loss of Reflexes
Reflexes, such as the quick knee-jerk response doctors test with a small hammer, may become reduced or absent in those with FA. This is another sign that the nerves controlling movement and balance are being affected.
6. Foot Abnormalities
Many people with Friedreich’s ataxia develop unusual foot shapes, such as high arches or curled toes (known as pes cavus). These changes happen because of long-term muscle weakness and imbalances. Custom shoes or braces can help reduce discomfort and improve stability.
7. Curvature of the Spine (Scoliosis)
Scoliosis, or a sideways curvature of the spine, is another common feature of FA. It often develops in childhood or the teenage years and may worsen over time. In some cases, a brace or surgery is needed to help correct posture and prevent breathing problems.
8. Heart Problems
Friedreich’s ataxia doesn’t only affect the nerves—it can also impact the heart. Many people develop hypertrophic cardiomyopathy, a condition where the heart muscle becomes thickened. This can cause chest pain, shortness of breath or an irregular heartbeat. Regular heart checkups are important for monitoring and managing these risks.
9. Vision and Hearing Difficulties
Over time, FA can affect the optic and auditory nerves, leading to vision loss, difficulty focusing or mild hearing problems. These symptoms vary by person, but regular eye and ear exams can help detect and treat issues early.
10. Diabetes or Blood Sugar Problems
Some people with FA develop diabetes or prediabetes because the condition can interfere with the body’s ability to regulate blood sugar. Symptoms like increased thirst, fatigue or unexplained weight changes should always be checked by a doctor.
Treatment Options for Friedreich’s Ataxia
While there’s no cure yet, several treatments and therapies can greatly improve quality of life for people living with FA. Here are the most common options:
1. Medication
- Skyclarys™ (omaveloxolone). The first FDA-approved treatment for Friedreich’s ataxia. It helps reduce nerve damage and improve movement by fighting oxidative stress in cells.
- Heart medications. Drugs that treat heart rhythm problems or heart failure may be prescribed if cardiomyopathy develops.
- Diabetes management. Insulin or oral medications help control blood sugar levels in those with diabetes.
2. Physical and Occupational Therapy
Regular exercise, stretching and balance training can slow muscle stiffness and help maintain coordination. Occupational therapists also teach practical ways to adapt daily tasks for greater independence.
3. Speech Therapy
Speech therapists assist with communication and swallowing difficulties, helping people retain their voice and confidence.
4. Orthopedic Support
Braces, wheelchairs or other mobility aids provide safety and comfort as muscle control decreases. Spinal surgery may be recommended for severe scoliosis.
5. Emotional and Social Support
Living with a chronic condition can be emotionally challenging. Support groups, counseling and community organizations—like the Friedreich’s Ataxia Research Alliance (FARA)—can help individuals and families find encouragement and resources.
Living with Friedreich’s Ataxia
A diagnosis of FA can feel overwhelming, but new treatments and supportive care options offer hope. Early diagnosis, regular medical care and access to therapies like Skyclarys can help people with Friedreich’s ataxia live fuller, more active lives, one step at a time.