CANVAS: A Rare Neurodegenerative Balance Disorder

Overview

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a rare neurodegenerative disorder that affects balance and coordination. It is characterized by the following symptoms:

Symptoms

• Progressive imbalance
• Oscillopsia (abnormal eye movements)
• Neuropathy (nerve damage in the limbs)
• Vestibular areflexia (lack of reflexes in the inner ear)

CANVAS typically presents in middle life and progresses slowly over time. The underlying cause is a genetic mutation that affects the RFC1 gene. This gene is responsible for repairing DNA damage, and mutations in the RFC1 gene can lead to the accumulation of DNA damage in cells throughout the body, including the nervous system.

Diagnosis and Treatment

CANVAS is diagnosed based on a combination of symptoms, family history, and genetic testing. There is no cure for CANVAS, but treatment can help to slow the progression of symptoms. Treatment options include rehabilitation therapy, medications, and assistive devices.

Conclusion

CANVAS is a challenging condition that can have a significant impact on quality of life. However, with proper diagnosis and treatment, people with CANVAS can live full and active lives. If you are experiencing symptoms of CANVAS, it is important to see a doctor for evaluation and diagnosis.