Friedreich ataxia (FA) management takes a multifaceted approach
FA is a dynamic disease requiring a multidisciplinary approach and monitoring to manage the various ways the condition affects your patients. This can include the management of:
Continued neurological symptoms1
Perform routine neurological examination and electrophysiologic studies.
Cardiovascular symptoms2
Consider pharmacological management with anticoagulants or surgical intervention with implantable cardioverter defibrillator or transplants in appropriate patients.
Cardiopulmonary function2
Cardiopulmonary function should be evaluated prior to any surgical intervention.
Fatigue3
Good sleep hygiene, potentially coupled with cognitive behavioral therapy, may help address fatigue.
Neuropathy-related and non-neuropathy-related pain4
Neuropathic pain resulting from FA can often be managed with pharmacological treatments such as amitriptyline, nortriptyline, carbamazepine, pregabalin, gabapentin, or duloxetine.
Orthopedic issues2
Surgical intervention may be necessary to help correct certain orthopedic problems should they arise.
Glucose and metabolism3
Patients with FA should undergo annual screening for diabetes.
Managing the progression of FA is a team effort
A comprehensive approach to managing FA may require a team of specialists to be part of the care process. Each care team should be tailored to the patient’s unique needs. The makeup of an FA care team will likely change as a patient’s disease progresses and requires more consideration to manage.
Core care team
Neurologist
Neurologists are typically at the center of the FA multidisciplinary care team and play a critical role in assessing a patient's mobility, strength, and balance, as well as evaluating disease progression.
Neurologists who treat patients with FA include neuromuscular specialists and movement disorder specialists.
There are several clinically validated neurological assessments that can be used to evaluate a patient’s status with FA, including but not limited to6:
- Scale for the Assessment and Rating of Ataxia (SARA)
- Modified Friedreich Ataxia Rating Scale (mFARS)
Primary care provider
Primary care physicians provide consistent care for healthcare needs not directly related to FA, as well as screening for FA complications, such as cardiovascular issues, diabetes, and scoliosis.
Cardiologist
Cardiologists can screen for cardiomyopathy and help manage any heart-related complications. Cardiomyopathy is the most common cause of death for patients with FA—between 60% and 70% of patients develop cardiomyopathy as a result of FA.2 Regular heart screening should be a central part of any FA care plan.
Extended care team
Physical therapist
Physical therapists evaluate patients with FA for things like posture, balance, stability, and coordination, and recommend an exercise plan to help achieve a higher quality of life while minimizing pain and disability.
Physical therapy and exercise training may improve strength and motor performance and reduce fatigue.
Occupational therapist
Occupational therapists help patients with FA by identifying ways to accomplish everyday tasks, recommending mobility aids and assistive technologies, or providing techniques and strategies for dealing with fatigue and other symptoms.
Important components of the holistic management of FA include setting up equipment to maximize independence, home/work modifications, retraining of functional skills, and management of educational and vocational issues.
Orthopedic surgeon
Orthopedic surgeons can help identify and treat injuries that may affect mobility. As FA progresses, it may be necessary to undergo surgery to correct skeletal problems.7
- As many as half of patients with early-onset FA may need surgery to correct scoliosis8
Endocrinologist
Endocrinologists can help identify and treat hormone-related conditions such as diabetes. The progression of FA may present differently between patients, and an active approach to monitoring and addressing diabetes complications from FA may be necessary.
Psychiatrist
Psychiatrists can help both patients and family members cope with the feelings of hopelessness and sadness that often follow the diagnosis of a progressive, inherited disease such as FA.
Social worker
Social workers can help connect patients with FA to the resources and services they may need, such as applying for disability benefits, finding support groups, assisting with insurance coverage, and coordinating arrangements for home care and assisted living.
Nutritionist
Nutritionists counsel patients on the importance of lifestyle changes and the ways in which diet and exercise may help reduce the severity of FA symptoms and manage the risk of diabetes.
- As FA progresses, patients may have more difficulty swallowing (dysphagia) and will require further dietary changes to ensure they get adequate nutrition9
- Up to nearly one-third of FA patients may have type 2 diabetes, making dietary management particularly important9
Connecting your patients to additional care if needed
Depending on patient needs, it may be appropriate to refer to a neuromuscular or movement disorder specialist in your area.
FARA Centers of Excellence (COE), The National Ataxia Foundation (NAF) or Muscular Dystrophy Association (MDA) care center networks may be able to provide your patients with access to specialty care and resources. To help ensure timely access to specialty care, consider having the following details prepared:
- Detailed description of patient's symptoms
- Rationale to suspect FA
- Confirmed genetic test
Learn more about specialty care for FA
Get updates on FA educational content
References
1. National Institute of Neurological Disorders and Stroke. Friedreich ataxia. Revised March 6, 2024. Accessed December 15, 2024. https://www.ninds.nih.gov/health-information/disorders/friedreich-ataxia. 2. Delatycki M, Corben L, Pandolfo M, et al. Consensus Clinical Management Guidelines for Friedreich’s Ataxia. Friedreich’s Ataxia Research Alliance; 2014. 3. Corben LA, Collins V, Milne S, et al. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Orphanet J Rare Dis. 2022;17(1):415. 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(1):51. 5. Gottesfeld JM. Molecular mechanisms and therapeutics for the GAA•TTC expansion disease Friedreich ataxia. Neurotherapeutics. 2019;16(4):1032-1049. 6. Rummey C, Corben LA, Delatycki MB, et al. Psychometric properties of the Friedreich Ataxia Rating Scale. Neurol Genet. 2019;5(6):371. 7. Lynch DR, Schadt K, Kichula E, McCormack S, Lin KY. Friedreich ataxia: multidisciplinary clinical care. J Multidiscip Healthc. 2021;14:1645-1658. 8. Rummey C, Flynn JM, Corben LA, et al. Scoliosis in Friedreich’s ataxia: longitudinal characterization in a large heterogenous cohort. Ann Clin Transl Neurol. 2021;8(6):1239-1250. 9. Cook A, Giunti P. Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull. 2017;124(1):19-30.