This website provides information on patients with mutations in the TANGO2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TANGO2 gene is a multisystem disorder characterized by encephalomyopathic crisis (altered consciousness, muscle weakness), epilepsy and developmental regression. Patients with TANGO2 mutations may also have episodic metabolic decompensations including rhabdomyolysis and lactic acidosis. A subset of patients also had cardiac abnormalities including arrythmias and cardiomyopathy.

Not all individuals with a mutation in the TANGO2 gene have these features.

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 TANGO2 gene.

Kuntal Sen, MD, FACMG, Division of Neurogenetics, Children’s National Hospital, Washington DC, USA, ksen2@childrensnational.org

Andrea L. Gropman, MD, FAAP, FANA, FACMG, Division of Neurogenetics, Children’s National Hospital, Washington DC, USA, agropman@childrensnational.org