TANGO2-Related Metabolic Encephalopathy and Arrhythmias

What is TANGO2-related metabolic encephalopathy and arrhythmias?

TANGO2-related metabolic encephalopathy and arrhythmias is characterized by metabolic crises and cardiac arrhythmias. Neurological symptoms are also present.

It is a newly discovered disorder, with the first case being recorded in 2016. As of 2018, there have been 30 cases reported throughout the world.

What are the symptoms of TANGO2-related metabolic encephalopathy and arrhythmias?

Medical professionals are still learning more about this disorder and its symptoms. They do know that the effects are greatly variable between affected individuals. One of the major symptoms is metabolic crisis, which is often triggered. Triggers include not eating for a long period of time, illness, stress, and dehydration. These episodes can cause muscle weakness, disorientation, ataxia, and even unconsciousness.

Muscle tissue can also break down during a crisis, which leads to various other symptoms, like pain and weakness in the muscles, fatigue, discolored urine, and kidney damage. Cardiac arrhythmias are another symptom that can be brought on by an episode. They can lead to cardiomyopathy and even be fatal.

Other symptoms exist for this disorder, including:

Developmental delays and regression
Seizures
Clumsiness
Hypothyroidism
Poor coordination
Intellectual disability
Unsteady gait
Issues with speech
Difficulty swallowing

Other symptoms have been reported but are rarer, including hearing loss, heightened reflexes, and temporary misalignment of the eyes.

What causes TANGO2-related metabolic encephalopathy and arrhythmias?

Mutations in the TANGO2 gene result in this condition. While researchers are aware that these mutations result in issues with the TANGO2 protein, they are unsure as to what this protein does. They also know that it is inherited in an autosomal recessive pattern.

How is TANGO2-related metabolic encephalopathy and arrhythmias diagnosed?

Doctors will identify the characteristic symptoms, perform a clinical evaluation, examine patient and family history, and perform tests. MRIs and EEGs are often used in the diagnostic process, while genetic testing is needed to confirm a diagnosis.

What are the treatments for TANGO2-related metabolic encephalopathy and arrhythmias?

There is no standard of treatment for this disorder, but a team of specialists is often needed to address the various symptoms. It is very important to seek prompt treatment for a metabolic crisis, as well as monitor any issues with cardiac arrhythmias.

Where can I find out more about TANGO2-related metabolic encephalopathy and arrhythmias?