Comprehensive Friedreich’s Ataxia Treatment Guide: Options and Tips
Health ConditionsGenetic Diseases

Friedreich’s Ataxia Treatment: A Complete Guide

Friedreich’s Ataxia Treatment: A Complete Guide
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Published on October 17, 2024
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There is currently no cure for Friedreich’s ataxia (FA), a rare, inherited neurodegenerative disease that affects the nervous system and causes movement and coordination difficulties. But various treatment approaches can help with symptom management, improve quality of life, and slow down disease progression.

Your doctor and other healthcare providers will work with you to determine which treatment or array of treatments will best improve your situation.

Who Treats Friedreich’s Ataxia?

Treatment of Friedreich’s ataxia is multifaceted, and focuses on symptom relief, maintaining mobility, and improving overall function and quality of life. People with Friedreich’s ataxia ideally have a whole team of healthcare professionals helping them, including but not limited to:

  • Neurologists
  • Cardiologists
  • Physical therapists
  • Occupational therapists
  • Speech therapists
  • Endocrinologists
  • Orthopedic surgeons
  • Mental health professionals
  • Genetic counselors

Medication

Medications for Friedreich’s ataxia largely target the symptoms and complications of Friedreich’s ataxia, such as insulin for diabetes and various cardiac medications for arrythmias.

But in 2023, the U.S. Food and Drug Administration (FDA) approved the first medication to treat people with Friedreich’s ataxia age 16 or older — omaveloxolone (Skyclarys).

 While it does not cure or completely stop the disease, omaveloxolone slows the progression of Friedreich’s ataxia, resulting in less physical impairment over time.

Given that the buildup of toxic by-products in cells — called oxidative stress — is involved in Friedreich’s ataxia cell damage, some experts also recommend patients take antioxidants like idebenone and coenzyme Q10 to potentially slow disease progression. Studies have not yet shown any significant benefit of antioxidant supplements for Friedreich’s ataxia.

Physical Therapy

Physical therapy is a cornerstone of Friedreich’s ataxia treatment, helping patients maintain muscle strength, flexibility, balance, and coordination. Exercises can include:

  • Low-intensity strength training to improve muscle strength, body coordination, and balance
  • Stretching and muscle-relaxing exercises to improve muscle plasticity and prevent deformities of the back (scoliosis) and foot (high arch, or pes cavus)
  • Frenkel exercises to improve coordination and proprioception (awareness of where the body is in space)

Speech Therapy

Over time, people with Friedreich’s ataxia may experience difficulties with speech and swallowing, and speech therapy plays a crucial role in addressing these issues. A speech-language pathologist can improve speech clarity with various techniques and exercises, such as:

  • Improving trunk stability and breath support to support speech
  • Identifying compensatory strategies, such as segmenting phrases, for improved articulation
  • Practicing speech sounds that have become unclear
Speech therapy can also help with swallowing function through exercises that improve the strength and movement of the larynx, tongue, and lips.

Occupational Therapy

Occupational therapy helps people with Friedreich’s ataxia maintain daily functioning and adapt to their physical limitations to maintain independence for as long as possible. Therapists work with patients to:

  • Find the best mobility aids for their needs, such as wheelchairs and walking canes, and learn how to use them
  • Identify any other assistive technologies that may be helpful, such as voice-activated software if they have a hard time using a mouse and keyboard, weighted cutlery if they’re experiencing tremors, or hearing aids if they’re experiencing hearing loss
  • Learn new, energy-conserving ways to perform daily activities that are becoming challenging, such as dressing, bathing, and eating
  • Modify and adapt the home environment, such as installing grab bars, ramps, or stair lifts, to improve safety and accessibility

Orthotics and Braces

As the disease progresses over time, people with Friedreich’s ataxia may develop orthopedic problems such as foot deformities (a high arch) and scoliosis (abnormal spine curvature). Orthotic devices can help provide support, enhance mobility, and prevent deformities from developing or worsening. These include:

  • Orthopedic shoes
  • Ankle-foot orthoses, which are hard braces that cover the lower limbs to stabilize weak ankles, support gait and proper joint alignment of the foot and ankle, and help with muscle weakness

  • Scoliosis braces, which apply pressure to the spine and ribs to prevent spinal curvature

Surgery

In some cases, orthotics and braces may not suffice for Friedreich’s ataxia-related musculoskeletal problems, and surgery may be necessary to correct the issues. Surgery may also be necessary to treat issues with the heart. Surgical interventions for Friedreich’s ataxia include:

  • Spinal surgery for scoliosis, typically spinal fusion, which involves using rods to reposition the spine and grafting small bones to the vertebral segments that need to be fused

  • Cavus foot surgery, which involves cutting and repositioning the bones of the foot to realign it

  • An implantable cardioverter defibrillator placed in the chest to detect and correct arrythmias (irregular heartbeat)

  • In rare cases, heart transplant to treat cardiomyopathy, an enlarged or thickened cardiac muscle that makes it harder for the heart to pump blood throughout the body

Lifestyle Modifications

Certain lifestyle habits can support overall health and improve the quality of life for individuals with Friedreich’s ataxia, including these:

  • A healthy, balanced diet rich in fruits, vegetables, whole grains, lean proteins, and healthy fats to help manage weight and joint stress, improve energy levels, and support heart and mental health

  • Regular physical activity (in addition to physical therapy exercises), including cardiovascular activities like swimming and cycling to maintain or improve endurance, heart health, and lung function

  • Regular medical checkups with your care team (ask each member of your team how often you should see them)
  • Mental health care in the form of mindfulness meditation, regular social activities, support groups, and therapy
  • A daily routine to reduce stress, help you maintain other healthy habits, and manage energy levels

The Takeaway

Friedreich's ataxia can be challenging, but there are a wide range of treatments that can help to manage symptoms, including a new medication that can slow disease progression. Your healthcare team will prioritize personalized approaches, including medications; physical, occupational, and speech therapies; and possibly surgery, to address your unique situation. Maintaining a healthy lifestyle that includes a nutritious diet, regular exercise, and social support can make a big difference in your quality of life.

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Anna-Hurst-bio

Anna C.E. Hurst, MD, MS, FACMG

Medical Reviewer
Castle Connolly Top Doctor
Anna C. E. Hurst, MD, is a medical geneticist with board certification in clinical genetics and pediatrics. She is an associate professor in the department of genetics at University of Alabama at Birmingham (UAB) and an adjunct faculty member at the HudsonAlpha Institute for Biotechnology. Prior to medical school, she received a master’s degree in genetic counseling, which inspired her interest in the communication of genetic information to patients and families with rare diseases.

Dr. Hurst is a physician for the UAB Undiagnosed Disease program, Turner syndrome clinic, and general genetics clinic, and she provides hospital consultations for inpatients at UAB and Children’s of Alabama for general genetics and inborn errors of metabolism. She also is the medical geneticist for the Smith Family Clinic for Genomic Medicine in Huntsville, Alabama.

Hurst's research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs. She also has an interest in how the patient’s physical exam and facial features can be clues to a rare disease diagnosis (dysmorphology) and serves on the scientific advisory board of Facial Dysmorphology Novel Analysis. She has published over 45 peer-reviewed articles in the field of medical genetics, largely focused on the clinical delineation of rare disease phenotypes. She also serves as an associate editor for the American Journal of Medical Genetics.

Hurst is also passionate about education and serves as the program director of the UAB genetics residency programs (categorical, pediatrics-genetics, and internal medicine-genetics) and medical director of the UAB Genetic Counseling Training program. She is an officer with the Association of Professors in Human Medical Genetics.
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