dystonia 23
ORPHA: 420492
Overview
focal dystonia characterized by autosomal dominant inheritance of adult-onset cervical dystonia with onset typically in the fourth or fifth decade of life that has material basis in heterozygous mutation in the CACNA1B gene on chromosome 9q34
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with dystonia 23, sourced from HPO and Orphanet clinical annotations.
TorticollisGait disturbanceMyoclonusDysphoniaUnsteady gaitHead tremorWriter's crampAxial dystoniaFocal dystoniaCraniofacial dystoniaNeck muscle hypertrophyLimb tremorHyperventilationSupraventricular arrhythmiaPanic attackCerebellar atrophyCerebral cortical atrophy
Classification & Codes
Orphanet Code
ORPHA:420492dystonia 23
| Orphanet | ORPHA:420492 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO