What is Friedreich’s Ataxia?
Friedreich’s ataxia is a rare genetic condition that causes progressive damage to the nervous system. People lose the ability to coordinate movements, often beginning in childhood or adolescence. The root cause is changes in the FXN gene, which reduce levels of a protein called frataxin; without enough frataxin, the cells’ energy production and health are impaired, especially in nerve and heart tissue. While there is currently no cure, treatments like Skyclarys exist that help manage symptoms, slow progression and improve quality of life.
10 Common Signs and Symptoms
Here are ten symptoms people with Friedreich’s ataxia commonly experience. Each person is different, so not all symptoms will appear for everyone and the pace of change varies.
1. Balance Problems and Unsteady Walking
One of the earliest warning signs is difficulty walking steadily: frequent tripping, a “wobbly” gait or needing to stand with legs wider apart for stability.
2. Poor Coordination of Limbs
Movements of arms and legs become less smooth and less accurate. Doing things like buttoning a shirt, handling small objects or walking on uneven ground become harder.
3. Muscle Weakness and Fatigue
The legs (and later other limbs) may feel weak; muscles tire more easily. Over time, this weakness worsens.
4. Loss of Reflexes and Nerve Sensation
On examination, reflexes (especially in the legs) may be decreased or absent. People may also lose vibration or position sense (knowing where a limb is without looking) and feel numbness or tingling.
5. Slurred or Unclear Speech and Difficulty Swallowing
As the condition advances, muscle control for speech and swallowing may be affected, causing speech to become slower, slurred or harder to understand, and swallowing may become difficult.
6. Foot Deformities and Scoliosis
People with Friedreich’s ataxia often develop structural changes such as high-arched feet, inward-turned feet and curvature of the spine (scoliosis).
7. Hearing and Vision Changes
Although less common than movement symptoms, some individuals experience impaired vision or hearing as the disease progresses.
8. Heart Complications
A major concern in Friedreich’s ataxia involves the heart—especially a condition called hypertrophic cardiomyopathy (thickened heart muscle) that can lead to irregular heart rhythms, heart failure or arrhythmias.
9. Diabetes or Carbohydrate Metabolism Problems
The pancreas may also be affected, so some people with Friedreich’s ataxia develop diabetes or insulin-resistance.
10. Sensory Changes and Fatigue
Fatigue is very common (low energy, needing more rest). Combined with sensory changes (reduced feeling in feet/hands) and hearing loss, daily life becomes more challenging.
Treatment Options Currently Available
While there is no full cure for Friedreich’s ataxia yet, several treatments aim to slow progression, manage symptoms and improve day-to-day functioning. Below are treatments, starting with the recently approved drug Skyclarys, followed by supportive or symptomatic approaches.
1. Skyclarys (omaveloxolone)
This is the first drug formally approved for Friedreich’s ataxia in the U.S. and European Union for patients aged 16 and older. It’s an oral capsule taken daily. Clinical trials showed that individuals who take Skyclarys had less physical impairment over 48 weeks compared to placebo. Doctors monitor liver enzymes, cholesterol and cardiac markers while taking this drug because of possible side-effects such as increases in liver enzymes and B-type natriuretic peptide (a heart marker).
It is not a cure, but it represents a major step forward in disease-directed therapy that helps improve overall quality of life for patients.
2. Physical and Occupational Therapy
Because balance, coordination and muscle strength are affected, regular physical therapy helps maintain function, improve gait and delay loss of mobility. Occupational therapy helps with fine motor skills and daily tasks. Mobility aids (canes, walkers, wheelchairs) can support independence.
3. Speech and Swallowing Therapy
When speech becomes slurred or swallowing hard, working with a speech-language pathologist can help maintain safety, communication ability and reduce choking risk.
4. Orthopaedic Treatments
Foot deformities (high-arched feet, inward turning) and spinal curvature (scoliosis) may require braces, orthotic devices or surgical intervention to maintain comfort, posture and mobility.
5. Heart Management
Since heart disease is common in Friedreich’s ataxia, management includes regular cardiology follow-up: echocardiograms, ECGs, medications for heart rhythm or heart‐failure issues and in severe cases, more advanced cardiac care.
6. Diabetes Management
If a person develops insulin resistance or diabetes, standard treatments apply: blood sugar monitoring, diet, exercise and medications or insulin as needed.
7. Symptom Control and Supportive Care
This includes managing fatigue, pain, spasticity (muscle tightness), balance training, nutritional support and mental health support (because living with a progressive disease can be emotionally demanding).
8. Research and Emerging Therapies
While not yet widely available, there are ongoing investigations into gene therapies, frataxin-boosting treatments and mitochondrial-protecting drugs. These offer hope for future improvements.
Living with Friedreich’s Ataxia
Friedreich’s ataxia is a serious, progressive condition but understanding what to look for and knowing that your care team has many tools (from the new approved drug SKYCLARYS to therapies and supportive care) can make a real difference in a person’s life. If you or someone you know is dealing with Friedreich’s ataxia, working closely with a neurologist or neuromuscular specialist is important. Regular monitoring, therapy and timely treatment help maintain quality of life.
Keep reading to learn about cardiovascular-kidney-metabolic syndrome.
The information on this website is for general educational purposes only and is not a substitute for professional medical advice. Always consult your doctor or qualified healthcare provider before making changes to your health, diet or treatment plan.