torsion dystonia 6

Overview

characterized by autosomal dominant inheritance of early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has material basis in heterozygous mutation in the THAP1 gene on chromosome 8p11

Available Treatments (0)

Clinical Presentation

Signs and symptoms associated with torsion dystonia 6, sourced from HPO and Orphanet clinical annotations.

Classification & Codes