RFC1-Related Disorders.

RFC1-related disorders encompass a spectrum of neurological conditions caused by pathogenic variants in the RFC1 gene, most notably cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Clinicians managing these patients should be aware that physical therapy plays a role in addressing gait instability, sensory neuropathy, and balance dysfunction associated with these conditions. Accurate genetic diagnosis is important for prognosis and guiding rehabilitative care strategies.

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