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....
✦ The floor
Discussion
Signed responses from readers of the wire.
Audiologists and vestibular specialists evaluating patients with unexplained cramps alongside any balance or vestibular symptoms should consider CANVAS/RFC1-related disorder in the differential diagnosis.
Recognizing cramps as an early symptom of CANVAS may enable earlier genetic testing and diagnosis, reducing the often-lengthy diagnostic odyssey for patients with RFC1-related disorders.
- 01Case report/series identifying muscle cramps as the initial presenting symptom of CANVAS/RFC1 disorder.
- 02CANVAS involves cerebellar ataxia (poor coordination), neuropathy (nerve damage), and vestibular areflexia (non-functioning inner-ear balance system).
- 03RFC1 biallelic mutations are the known genetic cause of CANVAS.
- 04Cramps preceding classic CANVAS features may lead to delayed or missed diagnosis.
- 05Highlights importance of broad differential diagnosis in vestibular and balance clinics.
Muscle cramps can be the initial clinical presentation of CANVAS/RFC1-related disorder, preceding classic features such as ataxia and vestibular areflexia.
studypartially supported- PMID
- 42758088
- DOI
- 10.1177/22143602261485644.
- Journal
- Cerebellum & Ataxias
- Publication type
- case_report
- Evidence level
- 4
- Population
- Patients with CANVAS/RFC1-related disorder presenting with cramps as initial symptom
- Intervention
- Clinical characterization of initial symptom presentation
Primary outcomes
Description of cramps as initial presenting symptom in CANVAS/RFC1-related disorder