Friedreich Ataxia (FA)

Friedreich ataxia (FA) is a multisystem disorder that is inherited in an autosomal-recessive pattern. Progressive appendicular and axial ataxia, spasticity, absence of lower limb reflexes, dysarthria, visual and auditory impairment, and reduced vibration perception and proprioception are neurological manifestations of FA. The complexity of the disease is further increased by non-neurologic problems, such as cardiomyopathy, scoliosis, diabetes mellitus, foot deformities, and mental health issues. The age at which symptoms first develop is typically 10 years; however, they can appear in individuals as young as 2 years and as old as 40 years. Patients with FA who experience symptoms before the age of 15 years often lose their ability to walk 11.5 years after the onset of the disease.¹ 

A team approach is required for the management of FA because of its complexity. The FA care team comprises various specialists who collaborate to provide care.² Even if a neurologist is continuously involved in patient care, contact with a multidisciplinary team of specialists is crucial. The team members should include a cardiologist, orthopedic surgeon, speech pathologist, physiatrist, and others.³

Primary Care Physician 

Patients with FA regularly visit their primary care physician, who can check for complications such as heart conditions, diabetes, and scoliosis and refer them to the appropriate specialists.² 

For the acute and long-term medical treatment of FA, one physician, such as a primary care physician, ideally serves as the coordinator of care and as the triage physician.⁴ 

Read more about FA diagnosis

Neurologist

A neurologist is essential for the management of nervous system issues in a patient with FA. Neurologists conduct routine examinations and check for muscle weakness, balance problems, and fatigue. A neurologist who specializes in the treatment of FA can be known as an FA specialist, an ataxia specialist, a neuromuscular specialist, a cerebellar ataxia specialist, or a neurogeneticist.^2,4 

Read more about FA treatment

Cardiologist 

A cardiologist is a crucial member of the care team because heart issues are common in persons with FA.² Heart disease is the primary cause of mortality in these patients. Electrocardiograms and echocardiograms almost invariably reveal some degree of cardiac abnormalities.⁴ To reduce morbidity and mortality due to arrhythmias and heart failure, intensive cardiologic monitoring is required. Heart transplantation is performed in patients with a milder form of significant cardiomyopathy. An automated implantable cardioverter-defibrillator is also placed in patients with FA.³

Read more about FA complications

Endocrinologist 

FA can affect the pancreas, which is a component of the endocrine system, leading to diabetes or abnormal blood sugar levels. An endocrinologist will recommend lifestyle modifications and prescribe medication to manage blood sugar levels. Dietary intake must be closely monitored, and lifestyle changes can be implemented to manage the complications of diabetes mellitus. The incidence of diabetes in FA varies from 10% to 65% (if impaired glucose tolerance is included).^2-4 

Read more about FA comorbidities

Orthopedist 

Orthopedic surgeons perform both nonoperative and surgical procedures on patients with FA to manage scoliosis and foot deformities.³ Most patients with FA have scoliosis; pes cavus is also common.⁴ 

Read more about FA surgical management

Geneticist/Genetic Counselor 

A geneticist/genetic counselor can analyze the results of genetic testing for FA, discuss FA inheritance with patients, and offer advice regarding genetic testing for family members. It is crucial to consider the advantages and disadvantages of testing family members, particularly siblings.² 

Read more about FA genetics

Speech Therapist 

FA can affect speech and swallowing. Dysarthria and other language impairments often start early in FA and worsen during the course of disease. A speech therapist can assess a patient’s ability to communicate and swallow and can recommend adjustments that may facilitate speaking and eating. ^2,5 

Read more about FA therapies

Occupational Therapists

Occupational therapists make recommendations about patients’ environments at work and at home. They can help a patient with FA find ways to remain independent for as long as possible by helping patients improve their skills or teaching compensatory strategies. They can offer training and guidance with canes, braces, and other mobility aids, as well as teach strategies for safety. When patients lose the ability to ambulate and require the use of a wheelchair, they can provide fitting and training.^2,3

Physical Therapists

Physical therapists can improve the physical functioning of patients with FA and help patients maintain an active lifestyle. A physical therapist can help the patient with balance and flexibility, limb movement accuracy, and strength maintenance. Exercises often focus on improving ataxia, managing scoliosis, reducing energy usage, and maintaining use of the extremities. This specialist can also recommend exercises to reduce pain and impairment and so improve quality of life. They can also provide advice for dealing with fatigue and other symptoms of FA.^2,3

Physiatrist

Physiatrists, or movement specialists, may offer advice on pharmacological treatments for spasticity.³ 

Mental Health Specialist

Although several neurological case series have described depression in FA, few psychiatric studies have provided a more comprehensive analysis. Therefore, it is uncertain whether depression is part of a disease-specific pattern or is the patient’s response to the diagnosis and its difficulties. In children and young adults, a long-term ailment contributes to psychological and adaptive problems. Ideally, a qualified mental health professional who is skilled at helping patients adapt to the changing aspects of their disease should be part of the multidisciplinary care team. The management of mental health is challenging in FA because of the wide age range of the patients; the psychological problems of children differ from those of adults in whom FA is diagnosed after the age of 25 years.⁴ Psychological evaluation and counseling are important for patients’ families as well.³ 

References

1. Corben LA, Collins V, Milne S. et al. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Orphanet J Rare Dis 2022;17:415. https://doi.org/10.1186/s13023-022-02568-3
2. It’s important to know you’re not alone: you can get an entire care team to support you. Your Friedreich’s ataxia (FA) care team. Reata Pharmaceuticals. Accessed January 29, 2023.
3. Williams CT, De Jesus O. Friedreich ataxia. StatPearls [Internet]. Updated September 5, 2022. Accessed January 29, 2023. 
4. Lynch DR, Schadt K, Kichula E, McCormack S, Lin KY. Friedreich ataxia: multidisciplinary clinical care. J Multidiscip Healthc. 2021;14:1645-1658. doi:10.2147/JMDH.S292945 
5. Schirinzi T, Sancesario A, Bertini E, Castelli E, Vasco G. Speech and language disorders in Friedreich ataxia: highlights on phenomenology, assessment, and therapy. Cerebellum. 2020;19(1):126-130. doi:10.1007/s12311-019-01084-8  

Reviewed by Debjyoti Talukdar, MD, on 1/31/2023.

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Harshi Dhingra, MD

Harshi Dhingra is a licensed medical doctor with specialization in Pathology. She is currently employed as faculty in a medical school with a tertiary care hospital and research center in India. Dr. Dhingra has over a decade of experience in diagnostic, clinical, research, and teaching work, and has written several publications and citations in indexed peer reviewed journals. She holds medical degrees for MBBS and an MD in Pathology.