Table 6.

Recommended Surveillance for Individuals with RFC1 CANVAS / Spectrum Disorder

System/
Concern		EvaluationFrequency
Neurologic
  • Neurologic assessment for progression of ataxia; sensory impairment; vestibular dysfunction; dysautonomia
  • No validated clinical scale exists for RFC1 CANVAS / spectrum disorder; consider monitoring disease w/validated scales for cerebellar disorder (e.g., SARA) and neuropathy (e.g., CMTNS). 1
Annually; more often for an acute exacerbation
Physiatry, OT/PT assessment of mobility, self-help skills
Dysarthria Need for alternative communication method or speech therapy (rarely required)Per symptom progression
Dysphagia Assess aspiration risk & feeding methods.

CMTNS = Charcot-Marie-Tooth Neuropathy Score; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia

1.

From: RFC1 CANVAS / Spectrum Disorder

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