A Rare, Genetic Disorder
Friedreich’s Ataxia (FA) is a rare genetic disorder that affects the nervous system and sometimes the heart. While there is currently no cure, treatments like Skyclarys can help manage symptoms by assisting the body in producing energy, which helps improve quality of life.
FA usually begins in childhood or the teenage years, though some people develop symptoms later in life. FA happens because of a change (mutation) in a gene called FXN, which leads to low levels of a protein called frataxin. This protein helps cells make energy, so without enough of it, the nerves and muscles don’t work as well.
Let’s look at the ten most common signs of FA, following by different treatments and therapy options.
10 Common Signs of Friedreich’s Ataxia
1. Unsteady Walking (Ataxia)
The first and most noticeable symptom of FA is usually difficulty walking. People may stumble, lose their balance or appear clumsy. This happens because the part of the brain and spinal cord that controls movement is affected.
2. Trouble with Coordination
Tasks that require fine motor skills—like writing, buttoning clothes or holding small objects—can become difficult. Over time, coordination problems can affect both the arms and legs.
3. Muscle Weakness
The muscles, especially in the legs, may become weak as nerve signals don’t travel properly. This can lead to tiredness and eventually the need for a cane, walker or wheelchair.
4. Speech Difficulties (Slurred Speech)
Because the muscles used for speaking can be affected, speech may become slow or slurred. Communication might take more effort, but speech therapy can often help.
5. Loss of Reflexes
Doctors often notice that reflexes, like the knee-jerk response, are reduced or absent in people with FA. This is a sign that the nerves in the spinal cord are not working normally.
6. Foot and Spine Changes
Over time, many people develop high arches in their feet or curved spines (scoliosis). These changes can affect balance, walking and posture.
7. Heart Problems (Cardiomyopathy)
The heart muscle can become thickened or enlarged, making it harder to pump blood. This can cause chest pain, shortness of breath or irregular heartbeats. Regular heart checkups are important for managing this symptom.
8. Vision or Hearing Changes
Some people may notice their vision becoming blurry or their hearing worsening. This happens because the nerves that connect the eyes and ears to the brain can also be affected.
9. Diabetes or Blood Sugar Issues
FA can sometimes affect how the body uses sugar, leading to diabetes. Symptoms might include thirst, tiredness or frequent urination, and they can be managed with diet and medication.
10. Fatigue and Low Energy
Since FA affects how cells make energy, people often feel tired or weak, even after resting. Managing energy levels and taking breaks during the day can help.
Managing Friedreich’s Ataxia
While Friedreich’s Ataxia cannot yet be cured, there are several ways to manage symptoms and improve quality of life. Treatments focus on protecting nerve function, supporting the heart and maintaining mobility and independence.
1. Skyclarys (Omaveloxolone)
The most exciting development in FA treatment is Skyclarys, also known by its scientific name omaveloxolone. Approved by the U.S. Food and Drug Administration (FDA) in 2023, Skyclarys is the first and only approved treatment for Friedreich’s Ataxia.
Skyclarys works by activating a pathway in the body that helps protect cells from stress and improve how mitochondria (the cell’s “power plants”) make energy. This helps slow down nerve damage and can improve movement and coordination. It’s taken as a daily pill and has shown positive results in clinical trials, giving new hope to people living with FA.
2. Physical Therapy
Exercise and stretching can help keep muscles strong and flexible. A physical therapist can design a routine that focuses on balance, strength and coordination to reduce stiffness and maintain mobility.
3. Occupational Therapy
Occupational therapists help people adapt their homes, schools or workplaces to make daily activities easier. This might include using tools to help with writing, eating or dressing.
4. Speech Therapy
Speech therapists can teach exercises to strengthen mouth and throat muscles, improving speech and swallowing. They can also suggest communication devices if speech becomes too difficult.
5. Heart Care
Because FA can affect the heart, regular visits to a cardiologist are important. Treatments may include medications to regulate heartbeat or control blood pressure. Early monitoring can help prevent serious heart complications.
6. Managing Diabetes
If blood sugar problems or diabetes develop, doctors may recommend a healthy eating plan, regular physical activity and medication to keep sugar levels stable.
7. Emotional and Social Support
Living with FA can be emotionally challenging. Talking to a counselor or joining a support group can help individuals and families cope. The Friedreich’s Ataxia Research Alliance (FARA) offers great resources and community support.
Living with Hope
Friedreich’s Ataxia is a lifelong condition, but with proper management and support, many people live full and meaningful lives. The approval of Skyclarys marks an important breakthrough and a reason for optimism. Alongside therapy, regular medical care and emotional support, new research continues to bring hope for even better treatments in the future.