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J. Machado

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Review Open access Sep 2026

Cramps as the initial presentation of CANVAS/RFC1-related disorder

Biallelic mutations in the RFC1 gene are associated with CANVAS syndrome (cerebellar ataxia, neuropathy and vestibular areflexia). Peripheral nerve involvement in the form of sensory neuronopathy and small fiber autonomic axonopathy is a core feature of its presentation. Motor manifestations, in the other hand, remain...

J. Machado, Jocelyn C. Zwicker, P. Bourque et al. · 0 citations

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