This website provides information on patients with mutations in the TOR1A gene, including clinical data, molecular data, management and research options.

Bi-allelic variants in TOR1A cause TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5), a rare neurodevelopmental disorder. This condition is characterised by severe congenital flexion contractures and variable developmental delay.
In the heterozygous state TOR1A is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TOR1A gene.

Homa Tajsharghi, PhD, Professor, University of Skövde, Skovde, Sweden, homa.tajsharghi@his.se