Distinct small-fiber dysfunction profiles in CMT1A and RFC1 disease: a multimodal study

Charcot-Marie-Tooth disease 1A (CMT1A) and Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)/Replication Factor Complex subunit 1 (RFC1)-related disease affect large nerve fibers, but small fiber dysfunction may contribute to pain and dysautonomia....

Continue reading at PubMed →

Audiologists and vestibular specialists evaluating patients with unexplained vestibular areflexia (complete loss of inner-ear balance function) and neuropathy should be aware that CMT1A and RFC1/CANVAS show distinct small-fiber dysfunction profiles that may aid differential diagnosis, though practice change awaits replication in larger cohorts.

Distinguishing the small-fiber nerve damage patterns in CMT1A versus RFC1/CANVAS disease can refine differential diagnosis and may eventually guide targeted management of the vestibular and sensory symptoms common to both conditions.

1. 01CMT1A and RFC1/CANVAS disease both cause neuropathy (nerve damage) and vestibular areflexia (absent inner-ear balance responses) but via distinct small-fiber dysfunction profiles.
2. 02A multimodal approach (multiple simultaneous testing methods) was used to characterise these differences.
3. 03Published in the Journal of Neurology, a peer-reviewed clinical neurology journal.
4. 04Findings could support more precise differential diagnosis between these two conditions.
5. 05RFC1/CANVAS is a recently described genetic condition; awareness in audiology/vestibular practice is still growing.

PMID

42749946

DOI

10.1007/s00415-026-14145-w.

Journal

Journal of Neurology

Publication type

research_article

Evidence level

2b

Population

Patients with CMT1A (Charcot-Marie-Tooth disease type 1A) and RFC1/CANVAS disease involving neuropathy and vestibular areflexia

Intervention

Multimodal small-fiber dysfunction profiling (characterisation study)

Comparator

Comparison between CMT1A and RFC1/CANVAS disease groups