Symptoms, Progression and Treatments
Friedreich’s ataxia (FA) is a rare inherited neurodegenerative disorder that primarily affects the nervous system and the heart. It is caused by mutations in the FXN gene, which reduce the production of a protein called frataxin, essential for mitochondrial function. This deficiency leads to nerve and muscle damage over time, impairing coordination, mobility and various body systems. FA typically begins in childhood or adolescence, though adult-onset forms exist. Below are common signs and symptoms of FA, followed by current treatments, including the recently approved medication Skyclarys.
10 Key Signs and Symptoms of Friedreich’s Ataxia
1. Ataxia (Loss of Coordination)
The defining feature of FA is progressive ataxia—an unsteady gait and difficulty coordinating voluntary movements. This occurs because the spinal cord and cerebellum, which control balance and movement, degenerate over time. Early symptoms often include clumsiness and frequent stumbling.
2. Dysarthria (Slurred Speech)
As the disease affects motor control, speech becomes slow, slurred or difficult to understand. This symptom results from weakened muscles used for speaking, particularly those of the tongue and face.
3. Muscle Weakness
Progressive muscle weakness in the legs and arms is common. It arises from both nerve damage and decreased use due to poor coordination. Over time, weakness may spread, contributing to mobility loss.
4. Spinal Deformities (Scoliosis and Kyphosis)
Many individuals with FA develop scoliosis, a sideways curvature of the spine, or kyphosis, a forward rounding of the upper back. These deformities often appear in childhood or adolescence and may worsen as the condition progresses.
5. Loss of Reflexes
Reflexes, particularly in the knees and ankles, become diminished or absent. This occurs because peripheral nerves degenerate, disrupting the reflex pathways between the spinal cord and muscles.
6. Sensory Loss
People with FA often experience reduced sensation in the legs, feet and hands, such as diminished ability to feel vibrations or detect position changes. This is due to damage in the sensory nerves responsible for transmitting signals to the brain.
7. Cardiomyopathy (Heart Problems)
One of the most serious complications of FA is hypertrophic cardiomyopathy, where the heart muscle thickens, leading to arrhythmias, chest pain or heart failure. In some cases, cardiac involvement can be life-threatening.
8. Diabetes Mellitus
Approximately 10–20% of individuals with FA develop diabetes. The mitochondrial dysfunction that underlies FA can impair insulin secretion and glucose regulation.
9. Vision and Hearing Impairment
Over time, some patients experience optic atrophy (degeneration of the optic nerve) or hearing loss. These symptoms reflect nerve damage in sensory pathways and can affect daily communication and independence.
10. Fatigue and Energy Loss
Chronic fatigue is common due to mitochondrial dysfunction. Cells produce less energy, leaving individuals exhausted even with minimal physical exertion. This fatigue can be both physical and mental, impacting overall quality of life.
Treatment Options for Friedreich’s Ataxia
While there is currently no cure for Friedreich’s ataxia, several treatments aim to slow disease progression, manage symptoms and improve quality of life. Advances in genetic and mitochondrial research have led to the development of promising therapies.
1. Skyclarys (Omaveloxolone)
Approved by the U.S. Food and Drug Administration (FDA) in 2023, Skyclarys (omaveloxolone) is the first and only approved medication specifically for Friedreich’s ataxia. Skyclarys works by activating a protein called Nrf2, which helps reduce oxidative stress and improve mitochondrial function—two key factors in FA pathology. Clinical trials demonstrated that it slows neurological decline and improves coordination and physical function in many patients. Skyclarys is taken orally, once daily, and marks a major milestone in FA treatment.
2. Physical and Occupational Therapy
Regular physical therapy helps maintain muscle strength, flexibility and balance. Occupational therapy supports independence by teaching adaptive techniques for daily tasks and recommending assistive devices such as walkers or wheelchairs as mobility declines.
3. Speech Therapy
For individuals with dysarthria, speech therapy can improve communication skills and teach strategies to make speech clearer and more effective. In later stages, speech-generating devices may be beneficial.
4. Cardiac Care
Because FA often affects the heart, ongoing cardiac monitoring and management are essential. Beta-blockers, ACE inhibitors or other heart medications may be prescribed to manage cardiomyopathy and prevent complications.
5. Diabetes Management
When diabetes develops, treatment typically includes dietary changes, exercise and medications such as insulin or oral hypoglycemics to regulate blood sugar levels effectively.
6. Orthopedic Interventions
Surgical procedures or braces may help correct or stabilize spinal deformities like scoliosis. These interventions can improve posture, comfort and breathing.
7. Experimental and Gene-Based Therapies
Researchers are actively exploring gene therapy, frataxin replacement and mitochondrial-targeted treatments aimed at addressing the root cause of FA. Early trials show promise, though these treatments remain experimental.
Outlook and Support
Friedreich’s ataxia is a challenging condition that affects multiple body systems, but recent advances—particularly with Skyclarys—offer renewed hope. Early diagnosis, comprehensive care and participation in ongoing clinical trials can significantly improve quality of life. Support groups and patient organizations, such as the Friedreich’s Ataxia Research Alliance (FARA), play a vital role in connecting families, funding research and fostering community for those affected by this rare disease.