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

Authors

Joaquín Machado, Jocelyn Zwicker, Pierre R Bourque, Hanns Lochmüller, Jodi Warman-Chardon, Alberto Aleman, Fien Oelbrandt, Ari Breiner

Published in

Journal of neuromuscular diseases. Pages 22143602261485644. Sep 18, 2026. Epub Sep 18, 2026.

Abstract

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 poorly understood and incompletely characterized.We present two cases referred for evaluation of muscle cramps as the main clinical symptom, who were ultimately diagnosed with CANVAS. We also conducted a literature review on cramps and other motor manifestations as the predominant symptom in this condition.This study highlights the recognition of cramps as a possible isolated motor manifestation, expanding the phenotypic spectrum of RFC1-related disease and the need of a high index of suspicion to accurately identified the condition.

PMID:
42758088
Bibliographic data and abstract were imported from PubMed on 18 Sep 2026.

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