A Cough, Then a Decade of Silence: Living Toward a Diagnosis of CANVAS and RFC1-Related Disease

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Abstract
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) and the wider family of RFC1-related diseases are among the most common causes of adult-onset hereditary ataxia, yet diagnosis is frequently delayed by decades. This Patient Perspective combines the historical evolution of clinical understanding with a first-person patient account to illustrate why the disorder is so often missed, and to offer a structured, clinically usable approach to recognition, investigation and multidisciplinary management. We argue that no single symptom is diagnostic; rather, the diagnosis emerges from recognising phenotypic patterns, which in the case of CANVAS are sensory ganglionopathy, bilateral vestibular hypofunction and cerebellar impairment. This triad may accumulate over many years and is often attributed by patients and clinicians alike to unrelated, more common conditions. A chronic cough generally predates the onset of the other features. Practical diagnostic pearls, a stepwise investigation algorithm and a multidisciplinary management framework are presented alongside the patient’s own account of a three-decade diagnostic journey, to help shorten the path to diagnosis for future patients.

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