Friedreich Ataxia (FA)

Friedreich ataxia (FA) is a progressive neurodegenerative disorder that is inherited in an autosomal-recessive pattern. 

Cause of FA

A mutation in the frataxin (FXN) gene causes a deficiency of frataxin, a protein that is found in mitochondria, the energy-producing units within every cell.¹ Frataxin regulates iron levels in the body, so a deficiency of frataxin results in a buildup of iron within the mitochondria and in various organs and systems, such as the heart and nervous system. This buildup of iron in tissues increases oxidative stress, leading to inflammation and deterioration of the nervous system, specifically regions of the spinal cord, peripheral nerves, and brain.²

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Signs and Symptoms of FA

Degeneration of the nervous system is associated with the characteristic signs and symptoms of FA, including the progressive loss of muscle strength and coordination (ataxia) in the limbs and trunk, impaired balance, and sensory problems, especially proprioception (joint position) and vibration sense. Additionally, typical forms of FA are characterized by an absence of reflexes in the lower extremities, speech problems, and occasional loss of vision or hearing.³ 

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Complications of FA

FA primarily affects the nervous system, impairing sensory and motor function; however, FA also may cause other complications, such as hypertrophic cardiomyopathy, cardiac arrhythmias, scoliosis, and diabetes. Iron deposits in the cardiac tissues result in scarring and dysfunction. The heart then becomes enlarged to compensate for dysfunctional tissues, often leading to cardiomyopathy and arrhythmias. Imbalance of the muscles surrounding the spine may cause an abnormal curvature to develop. Depending on the degree of the curvature, corrective surgery may be required. Approximately 10% of people with FA develop diabetes.^1-3

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Treatment Options

A multidisciplinary team is required to manage the symptoms of FA. According to best practice guidelines, physical therapy is recommended as a first-line approach to treat the neuromuscular impairments due to FA. Physical therapy programs should focus on improving the accuracy and coordination of limb movements, muscle strength, flexibility, and balance to prevent falls and help patients with FA maintain independent ambulation for as long as possible.³ 

Physical or occupational therapists may assist with wheelchair fitting and teach patients how to maneuver and transfer into and out of their wheelchairs once these assistive devices are used full-time. Aerobic exercises may reduce the fatigue and weakness that are common in patients with degenerative cerebellar ataxias.³

Pharmacological treatments may include medications to reduce muscle pain, spasticity, spasm, and tremor.⁴ Iron chelators bind iron to reduce iron accumulation, one of the main causative factors in FA.⁵ Medications may also help manage cardiomyopathy, cardiac arrhythmias, and diabetes.^1-3

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Dietary Recommendations

The National Ataxia Foundation (NAF) recommends a diet for patients with ataxia that is low in simple carbohydrates and high in dietary fiber.⁶ Avoiding simple carbohydrates by limiting the consumption of cookies, cupcakes, white flour, fruit juice, pastries, and candies is suggested.⁷ A daily intake of dietary fiber of approximately 30 to 40 g is recommended for adults with FA. Fiber supplements may be necessary.⁷ 

A healthy, balanced diet consisting of nutritious foods can 

• Increase energy levels and reduce fatigue;
• Support a healthy body weight and reduce joint stress;
• Improve the regularity of bowel movements; and 
• Improve the patient’s emotional and mental state.^6,7 

The NAF also recommends that attention be given to the texture of foods, particularly if the patient has difficulty swallowing. Patients with FA may take steps to prevent choking or inhaling (aspirating) food by restricting or avoiding:⁷

• Dry or crumbly foods, such as biscuits and nuts;
• Small, easily aspirated foods, such as sesame seeds;
• Foods that are difficult to chew or break down, such as steak and apples; and 
• Thin liquids that may not be easy to swallow.

Adding a thickening agent to thin liquids may facilitate swallowing.⁷

Some patients with ataxic conditions such as FA may benefit from avoiding or reducing their intake of aspartame, freshly baked bread (<1 day old), chocolate, citrus fruits, raw onions, monosodium glutamate, and foods containing sulfites, nitrates/nitrites, or tyramine. Foods containing sulfites include raisins, dried fruits, dates, figs, and foods preserved with sulfites.⁶ 

Foods containing nitrates/nitrites include hot dogs, bacon, sausage, ham, and smoked fish.⁶ Avoiding processed meats with additives and preservatives is recommended.⁷ Foods containing tyramine include hard cheeses, pizza, yogurt, sour cream, buttermilk, soy, lentils, lima beans and navy beans, chicken or beef liver, peanut butter, and nuts. Avoidance of these food items may reduce dizziness and improve balance in patients with ataxia.⁶

Patients with FA should take a daily multivitamin to reduce fatigue and support their general health. Supplements should include vitamins B12, C, D3, E, and K; calcium; coenzyme Q10; magnesium; flavonoids; and omega-3, -6, and -9 fatty acids. Patients with FA should discuss taking glucosamine sulfate (not glucosamine HCl or chondroitin) with their physician as this supplement may relieve arthritis pain.⁶

It is recommended that patients with FA avoid over-the-counter or prescription medications that can exacerbate fatigue and weakness.⁶

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Exercise

Physical abilities vary among patients with FA. It is important that they remain physically active according to their individual capabilities to support their general health, reduce fatigue, and improve strength, sleep, and mood.⁷ 

Aerobic exercises, yoga, low-impact weight training, balance exercises, and core-strengthening exercises all may help to maintain or improve ambulation, flexibility, cardiovascular fitness, static and dynamic balance, and trunk and limb stability.⁷ 

Patient Resources

Several educational, research, and patient/parent support groups are available for individuals with FA, including the National Ataxia Foundation (NAF), Friedreich’s Ataxia Parents’ Group (FAPG), and Friedreich’s Ataxia Research Alliance (FARA).^8-10 These support and research groups can help patients with FA and their caregivers learn more about the condition, treatment options, and current research studies, as well as connect with other families sharing their experience. 

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References

1. Friedreich ataxia. MedlinePlus. Accessed January 27, 2023.
2. Payne RM. The heart in Friedreich’s ataxia: basic findings and clinical implications. Prog Pediatr Cardiol. 2011;31(2):103-109. doi:10.1016/j.ppedcard.2011.02.007
3. Friedreich’s ataxia. Physiopedia. Accessed January 27, 2023.
4. de Silva R, Greenfield J, Cook A, et al. Guidelines on the diagnosis and management of the progressive ataxias. Orphanet J Rare Dis. 2019;14:51. doi:10.1186/s13023-019-1013-9
5. Boddaert N, Le Quan Sang KH, Rötig A, et al. Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood. 2007;110(1):401-408. doi:10.1182/blood-2006-12-065433
6. Ataxia diet FAQs. National Ataxia Foundation. Accessed January 27, 2023. 
7. Managing your Friedreich’s ataxia (FA). Reata Pharmaceuticals. Accessed January 27, 2023.
8. NAF. National Ataxia Foundation. Accessed January 27, 2023.
9. Friedreich’s Ataxia Parents’ Group. Accessed January 27, 2023.
10. FARA. Friedreich’s Ataxia Research Alliance. Accessed January 27, 2023.

Reviewed by Harshi Dhingra, MD, on 1/30/2023.

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Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT

Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT is a freelance medical writer and Doctor of Physical Therapy from Maryland. She has expertise in the therapeutic areas of orthopedics, neurology, chronic pain, gastrointestinal dysfunctions, and rare diseases especially Ehlers Danlos Syndrome.