Most individuals are diagnosed through molecular genetic testing. Genetic testing can detect a variation in the TANGO2 gene known to cause TANGO2-related metabolic encephalopathy and arrhythmias. The TANGO2 gene is found on chromosome 22.
Brain imaging via MRI may also be useful. Some affected individuals have shown reduced size of the cerebrum within the skull (cerebral volume loss).
Other tests may be performed to assess specific symptoms. For example, if seizure activity is seen or suspected – body shaking or staring spells, physicians may recommend an electroencephalogram (EEG), which is a test that measures the electrical activity of the brain
Vitamins B vitamins particularly B5 and B9 are shown to reduce TANGO2 spells, reduce risk of crisis and increase energy levels. Please see attached research papers.
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