TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia

The TANGO2 (transport and golgi organization 2 homolog) gene mutation was initially identified in 2016 by exome sequencing in 15 patients with variable phenotypes.(1) Homozygous inheritance produces metabolic crises associated with rhabdomyolysis and acute neurologic or cardiac symptoms.1,2 This case describes multifocal combined dystonia as a novel phenotypic feature of TANGO2 mutations.