Friedreich’s ataxia multidisciplinary care

Last updated Aug. 21, 2025, by Lindsey Shapiro, PhD
Medically reviewed by David Lynch, MD, PhD

As a multisystem disorder with diverse clinical manifestations, Friedreich’s ataxia (FA) requires coordinated multidisciplinary care from a team of specialists. Appropriate treatment and management relies on prompt referrals to necessary specialists and consistent communication between members of the care team.

Components of FA care

While the core features of FA are neurological, patients experience a range of other non-neurological disease manifestations and comorbidities, and each may require treatment from a different specialist.

Neurology

All FA patients have some degree of neurological involvement and as such, the neurologist typically serves as the cornerstone of FA care. They’re likely the first specialist to be brought on board after a patient presents to a primary care provider with relevant symptoms.

A neurologist should monitor and treat patients for neurological symptoms including ataxia, weakness, spasticity, neuropathic pain, or cognitive dysfunction. Other neurological complications, including bladder issues, vision, or hearing loss may also be initially managed by a neurologist, but referral to other specialists may be required.

Urology referrals are usually not necessary, although it may be indicated in cases where symptoms are refractory to treatment or if other concomitant conditions are suspected. Vision and hearing loss may require referral to ophthalmology or audiology to rule out unrelated causes.

A patient’s neurologist is also the physician who most often refers patients to any relevant clinical trials for experimental treatments.

Cardiology

Nearly all FA patients develop some form of cardiac abnormality — usually in the form of hypertrophic cardiomyopathy —  at some point in their lives. It’s recommended that all patients have an electrocardiogram and echocardiogram at initial evaluations and roughly every year thereafter.

Consultations with a cardiologist should be considered for all FA patients, particularly if cardiac symptoms or EKG abnormalities are evident. Management of cardiac issues in FA are similar to the management of cardiomyopathy in the general population. Where arrhythmias are identified, consultation with an electrophysiology specialist is warranted.

Orthopedics

Orthopedic concerns, including scoliosis, are common in FA. Scoliosis may be a presenting symptom for a minority of younger patients.

Management of orthopedic issues are similar to treatment in the general population, and should be overseen by an orthopedic specialist. An orthopedic surgeon may be brought on should surgical intervention be required.

Endocrinology

Diabetes is a common comorbidity of FA for which patients should be carefully monitored. Referral to an endocrinologist may be necessary for managing diabetes in complex cases.

Growth in FA patients, especially during puberty, also requires monitoring, as many children with FA have a low body mass index. Patients are also prone to osteoporosis and low bone mineral density. If osteoporosis is identified, it should be managed by an endocrinologist or other specialist with relevant clinical experience.

Mental health

Mental health problems are not part of the diagnostic clinical features of FA, but many patients experience depression, anxiety, or other mental health issues.

Patients should be regularly evaluated for signs of mental health difficulties, and if such issues are suspected, the inclusion of a trained mental health professional on the care team is important. Such professionals may counsel patients on adapting to life with FA or provide recommendations for lifestyle changes or medications that may help.

Family planning and genetic counseling

After an FA diagnosis is reached, patients and their families should be offered genetic counseling to help them understand the inheritance pattern of the disease.

Genetic specialists should counsel families on the possibility that other siblings may be affected, and whether genetic testing is indicated for family members. Patients should also be advised on the risks that their future offspring will be carriers of a pathogenic mutation for FA (though they should not develop FA unless the partner of the patient is a carrier), and family planning options should be discussed.

Women with FA who wish to become pregnant will require careful multidisciplinary monitoring for cardiac function, diabetes, and other complications. The team should always include a cardiologist and obstetrician.

Rehabilitation and supportive care

The integration of various forms of rehabilitation may also be useful in FA management.

Physical therapy may play a role in slowing functional declines or easing symptoms such as fatigue and pain. All exercise regimens should be individualized to the patient under the supervision of a trained physical therapist, although neurologists and other care team members may also be involved.

An occupational therapist may also be brought on to the care team to help patients with strategies for maintaining daily life independence, such as making environmental adaptations in the home or learning the use of digital and assistive technologies. Targeted speech therapy may also be useful for managing dysarthria and dysphagia in FA patients.

There is limited evidence as to which forms of supportive care are most appropriate, and decisions on how to integrate rehabilitation programs into an FA care plan should be made in discussion with all members of a patient’s multidisciplinary care team.

Surgery and anesthesia

FA patients are at a higher risk of complications from surgery or anesthesia due to issues including cardiomyopathy, scoliosis, and diabetes. Patients particularly require careful monitoring of cardiac function and fluid balance before, during, and after surgery.

Patients undergoing a procedure requiring sedation or anesthesia need a multi-disciplinary team with appropriate expertise, which may include a cardiologist, anesthesiologist, intensivist, and surgeon. Surgery should ideally be performed in a center with cardiac intensive care facilities.

Coordinating a multidisciplinary care plan

Early recognition of the signs of FA is critical for a prompt diagnosis and optimal disease management. In typical cases, a pediatrician or primary care physician are usually the first to see an affected patient. Signs of relevant neurological issues such as ataxia should prompt a referral to a neurologist with relevant expertise.

Ideally, one physician, usually the neurologist, should be responsible for taking the lead in coordinating the FA care plan and referring patients to necessary specialists based on their individual needs.

Quality multidisciplinary care relies on good communication between the neurologist and other specialists.

Some patients may need to travel substantial distances to reach specialized FA care centers. In such cases, the integration of remote care, including telemedicine, may be useful for establishing care with specialists when this is allowed by insurance criteria.

As a lifelong disease with typical onset in childhood or adolescence, multidisciplinary care for FA also inevitably requires a smooth transition from pediatric to adult care. Healthcare providers should prepare for this transition to ensure there are no disruptions in care.