dystonia 24
ORPHA: 420485
Overview
focal dystonia characterized by autosomal dominant inheritance of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs that has material basis in heterozygous mutation in the ANO3 gene on chromosome 11p14
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 24, sourced from HPO and Orphanet clinical annotations.
TorticollisBlepharospasmLimb dystoniaUpper limb postural tremorVocal tremorMyoclonusAbnormality of the larynxHand tremorOromandibular dystonia
Classification & Codes
Orphanet Code
ORPHA:420485dystonia 24
| Orphanet | ORPHA:420485 |
| Treatments | 0 drug(s) |
| Symptoms on record | 9 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO