Patients with TANGO2-related disorder often present with a combination of symptoms that can vary widely in severity. Common features include episodes of metabolic crisis, which may manifest as vomiting, lethargy, and hypoglycemia (low blood sugar). Neurological symptoms can include developmental delays, intellectual disability, and muscle weakness. Cardiac arrhythmias, or irregular heartbeats, are a significant concern and can be life-threatening. Some patients may also experience seizures and movement disorders.

Diagnosing TANGO2-related disorder involves a combination of clinical evaluation, genetic testing, and laboratory studies. A detailed medical history and physical examination are essential to identify characteristic symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the TANGO2 gene. Additional tests may include blood tests to assess metabolic function, electrocardiograms (ECG) to detect arrhythmias, and imaging studies to evaluate brain structure and function.

There is currently no cure for TANGO2-related disorder, and treatment focuses on managing symptoms and preventing complications. Management strategies may include dietary modifications to prevent metabolic crises, medications to control seizures and arrhythmias, and physical therapy to address muscle weakness. Regular monitoring by a multidisciplinary team, including neurologists, cardiologists, and metabolic specialists, is crucial for optimal care.

The prognosis for individuals with TANGO2-related disorder varies depending on the severity of symptoms and the effectiveness of management strategies. Early diagnosis and intervention can improve outcomes, but the condition can be life-threatening, particularly due to cardiac complications. Ongoing research aims to better understand the disease and develop more effective treatments.

TANGO2-related disorder is caused by mutations in the TANGO2 gene, which is involved in cellular energy production and metabolism. These mutations disrupt normal cellular function, leading to the symptoms observed in affected individuals. The condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for the disorder to manifest.

TANGO2-related disorder is extremely rare, with only a limited number of cases reported worldwide. Due to its rarity, the exact prevalence is unknown, and it may be underdiagnosed. The condition affects both males and females and has been identified in various ethnic groups.

The TANGO2 gene is essential for normal cellular metabolism and energy production. Mutations in this gene lead to impaired mitochondrial function, which affects energy production in cells. This dysfunction can result in metabolic crises, neurological symptoms, and cardiac arrhythmias. The exact mechanisms by which TANGO2 mutations cause these symptoms are still being studied.

Currently, there are no specific measures to prevent TANGO2-related disorder, as it is a genetic condition. Genetic counseling is recommended for families with a history of the disorder to understand the risks and implications of inheritance. Prenatal testing and carrier screening may be options for at-risk families.

TANGO2-Related Metabolic Encephalopathy and Arrhythmias is a rare genetic disorder characterized by metabolic crises, neurological symptoms, and cardiac arrhythmias. It is caused by mutations in the TANGO2 gene, affecting cellular energy production. Diagnosis involves genetic testing and clinical evaluation, while treatment focuses on symptom management. The condition is life-threatening, particularly due to cardiac complications, and requires ongoing medical care.

If you or a loved one has been diagnosed with TANGO2-related disorder, it is important to work closely with a healthcare team to manage symptoms and prevent complications. This condition is rare and can be challenging to diagnose, but genetic testing can confirm the presence of TANGO2 mutations. Treatment involves managing symptoms through dietary changes, medications, and regular monitoring by specialists. While there is no cure, early intervention and comprehensive care can improve quality of life.