Newly diagnosed with RFC1-related disease

A practical guide for patients and families

You are not alone.

An RFC1 diagnosis does not mean that your life must suddenly change. RFC1-related disease generally progresses slowly, often over many years. Symptoms vary greatly, and not everyone develops every feature associated with CANVAS.

A clearer path forward

Although there is currently no treatment that stops or reverses RFC1-related disease, there are meaningful ways to manage symptoms, improve balance and safety, maintain function, and protect quality of life. Research is advancing as awareness of RFC1-related disease grows.

A diagnosis provides an explanation for your symptoms and a clearer path forward. The RFC1 Foundation is here to help you understand the condition, find appropriate care, connect with others, and stay informed about research.

Start here

You do not have to address everything at once. Use the checklist on the following pages to decide which steps are most important for you.

Understanding Your Diagnosis

RFC1-related disease is a genetic neurologic condition that may affect three systems involved in balance and coordination:

Cerebellar Function

Unsteady walking, poor coordination, hand clumsiness or changes in speech.

What does CANVAS mean?

When all three systems are affected, the condition is commonly called CANVAS: Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome.

Not everyone with RFC1-related disease has all three components. Some people initially experience only one or two. A chronic, unexplained cough can begin many years before balance or neurologic symptoms. Other possible symptoms include muscle cramps, swallowing or speech difficulties, constipation, urinary problems, abnormal sweating or lightheadedness.

Important: New symptoms should not automatically be attributed to RFC1. Unrelated and potentially treatable medical conditions may also occur.

Your First Steps After Diagnosis

Use this checklist as a starting point. Not every test or service is needed by every person.

• Keep a copy of your genetic test results

Ask for the complete laboratory report, not only the summary in your medical record. The report should describe the RFC1 repeat expansions that were identified.

• Meet with a neurologist familiar with ataxia or neurogenetic disorders

Your neurologist can determine which parts of the RFC1 spectrum are currently affecting you and establish a baseline for future comparison.

• Ask whether baseline testing is appropriate

Depending on your symptoms and previous testing, this may include neurologic and walking assessments, nerve-conduction studies, vestibular testing, a fall-risk evaluation, speech or swallowing evaluation, cough assessment, or testing for sleep, breathing or autonomic concerns.

• Begin physical or vestibular therapy when indicated

Balance, strength, coordination, gait training and gaze-stabilization exercises may help maintain function and reduce falls. Starting before falls become frequent may help preserve confidence and independence.

• Discuss all of your symptoms - not only balance

Mention numbness, nerve pain, bouncing vision, falls, chronic cough, choking, speech changes, cramps, constipation, urinary symptoms, abnormal sweating, lightheadedness, or changes in sleep and breathing.

• Review your home and daily activities for safety

Improve lighting, install railings, remove loose rugs, wear supportive footwear and use extra caution on stairs, uneven surfaces and in darkness. Discuss a cane, trekking poles or rollator if needed.

• Request a speech or swallowing evaluation if needed

Discuss coughing or choking while eating, food sticking, unexplained weight loss, recurrent chest infections or changes in speech with your physician.

• Consider genetic counseling

A genetic counselor can explain what your result means, the implications for relatives, whether family testing should be considered, and the limitations of genetic testing.

• Arrange regular follow-up care

Many people benefit from an annual neurologic evaluation, although earlier or more frequent visits may be appropriate if symptoms change.

• Connect with the RFC1 community

The RFC1 Foundation can help you find educational resources, connect with others, receive research updates and learn about registries or research opportunities.

Remember:‍ ‍Using a walking aid is a way to preserve independence - not a sign of failure.

Managing RFC1-Related Disease

There is currently no approved treatment that stops or reverses RFC1-related disease. Care is directed toward symptoms, safety, function and quality of life.

Depending on your needs, management may include:

• Physical therapy and individualized exercise

• Vestibular rehabilitation

• Occupational therapy and home-safety modifications

• Speech and swallowing therapy

• Appropriate walking aids

• Treatment of neuropathic pain

• Evaluation and management of chronic cough

• Treatment of other medical conditions

What can I expect?

RFC1-related disease usually progresses slowly, but its course differs from person to person. Symptoms may appear gradually and may not develop in a predictable order. Many people remain active and independent for years. Some eventually benefit from a cane, trekking poles or a rollator. More significant mobility assistance may be needed later, but the timing varies considerably.

Available evidence suggests that life expectancy is generally not shortened by RFC1-related disease. Your individual outlook will also depend on your general health and other medical conditions.

You are more than your diagnosis. Taking practical steps now can help you understand your symptoms, protect your safety and make informed decisions about your care.

Questions for Your Healthcare Team

Bring this page to your next appointment and check off the questions you want to discuss.

Which parts of the RFC1 spectrum are currently affecting me?

What baseline testing should I have?

Which symptoms should we monitor?

Would physical or vestibular therapy help me now?

What exercises are appropriate for me?

How can I reduce my risk of falling?

Should my cough, speech or swallowing be evaluated?

Could any of my symptoms have another treatable cause?

How often should I be examined?

Should my relatives receive genetic counseling?

Are there patient registries or research studies I can join?

Seek prompt medical attention for sudden weakness or numbness, facial drooping, a sudden severe worsening of balance, loss of consciousness, chest pain, severe breathing difficulty, repeated choking, inability to swallow, a serious fall or head injury, or any abrupt concerning change in health.

Medical disclaimer

This information is provided for educational purposes and is not a substitute for individualized medical advice, diagnosis or treatment. Healthcare decisions should be made with qualified professionals familiar with your medical history.

Prepared August 2026