How Friedreich’s ataxia is monitored over time

After your Friedreich’s ataxia (FA) diagnosis, you’ll need lifelong monitoring from a team of specialists to track how your disease is changing and what treatments you need. Knowing what to expect from FA monitoring will help you stick to an appropriate follow-up plan.

FA is a genetic neurodegenerative disease that leads to a loss of muscle control, heart problems, speech difficulties, and a range of other possible symptoms. Although FA cannot be cured, various treatments are available to help manage the condition.

Consistent follow-up with your multidisciplinary care team is central to developing the right treatment plan at every stage of life. Keeping up with clinic visits and at-home monitoring will help ensure that you maintain the best possible daily functioning and quality of life over time.

Why regular check-ups are essential

FA is a progressive disease — the nervous system, heart, and other tissues are increasingly damaged over time — and the rate at which this happens varies widely between individuals.

Regular check-ups allow your doctor to track your condition and make adjustments to your care plan. This is especially important because some disease-related complications, including heart disease, don’t always cause obvious symptoms. Monitoring FA over time enables your doctor to identify these issues and intervene early.

While the neurologist is usually at the core of the FA care team, you may need multidisciplinary follow-up with several other specialists, including cardiologists, orthopedists, and endocrinologists. The specialists who care for you may change over time as your needs evolve.

What to expect during your routine evaluations

After your FA diagnosis, you’ll typically see your neurologist once or twice a year. Routine neurological monitoring for FA usually includes:

• a review of symptoms: you will report how walking, arm function, speech, swallowing, breathing, and other functions have changed since your last visit.
• a neurological examination: the doctor will perform a series of clinical assessments to evaluate your gait, coordination, muscle strength, hand function, reflexes, sensation, and speech. This may be done using validated clinical scales, such as the modified FA Rating Scale.

Depending on what you’re experiencing, your neurologist may refer you to other specialists to monitor your symptoms. Many of these assessments are also done yearly, although the frequency of these visits may vary depending on your specific symptoms and whether you are in the early or advanced stages of the disease. These tests may include:

• blood sugar and vitamin D screening
• bone density tests
• hearing assessments
• sleep apnea screening
• mental health questionnaires
• lung function tests
• spine exams, to look for scoliosis
• height and weight measurements
• speech and swallowing assessments

Keeping an eye on your heart health

Heart disease in FA can progress silently without causing obvious symptoms. This is why it is essential to see your cardiologist for routine heart health checks at least once a year. Guidelines recommend that these annual evaluations include an:

• electrocardiogram, which assesses the heart’s electrical activity
• echocardiogram, which evaluates various aspects of heart structure and function

Visits may become more frequent if you’re experiencing progressive heart-related symptoms. In some cases, your doctor may send you home for a few days with a Holter monitor, which is a small, battery-powered electrocardiogram device that continuously records your heart’s rhythm during daily activities.

Tracking physical and mobility changes at home

Between clinic visits, it’s a good idea to keep track of changes in your functional abilities. This will help your doctors better understand how quickly FA is progressing and how it affects your daily life. In a journal or log book, you can note any changes in:

• the frequency of trips or falls
• how far you can walk before needing rest or a walking aid
• how difficult it is to use stairs or transfer in and out of your wheelchair
• your ability to use your hands for tasks like buttoning shirts, writing, or using utensils
• the frequency of choking episodes or fatigue while eating
• how easy it is to speak and be understood
• your sleep habits
• your mood and thinking abilities

While tracking FA symptoms with a log is helpful, it should not replace timely communication with your team. Always let them know if your symptoms worsen significantly or start to interfere with your ability to safely perform daily activities.

How monitoring informs the daily care plan

Based on findings from in-clinic assessments and at-home monitoring, you’ll work with your doctor to develop a care plan that fits your individual needs. This is a dynamic process — the plan will evolve alongside your symptoms.

In particular, FA progression tracking will help you and your care team make decisions about the need for:

• physical, occupational, or speech therapy
• walking aids, adaptive equipment, and assistive technologies
• medications to control spasticity, bladder problems, heart disease, or diabetes
• surgery for orthopedic problems
• dietary changes or feeding tube placement
• mental health support

You’ll also discuss whether there is a need to monitor any rapidly progressing symptoms more frequently.

Don’t hesitate to be an active participant in these discussions with your care team — you are the one living with FA. When developing a treatment plan, it is important for your doctors to understand which symptoms most impact your quality of life and your care priorities.