Tango2Tango2 disease is a rare condition that is not well recognized by physicians.
The Tango2 disease is an autosomal recessive inherited disease caused by a mutation in the Tango2 gene (transport and Golgi organization 2).

The disease could appear when there is a bi-allelic loss-of-function variant in Tango2 gene and appear in childhood.
The main symptoms of the disease are:

  • metabolic crises triggered by a catabolic metabolic state characterized by:
  • Encephalopathy
  • Hypoglycemia
  • Rhabdomyolysis (elevated CK)
  • Cardiac arrhythmias
  • Hypothyroidism (not always)
  • Progressive neurodegeneration
  • Epilepsy (not always)
  • Cognitive impairment
  • Pyramidal and cerebellar signs
  • Loss of expressive language