What is TANGO2?

What is TANGO2?

TANGO2 itself is a protein coding gene on chromosome 22 (22q11.21). This gene belongs to the transport and Golgi organisation family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum.

What is TANGO2-related deficiency disorder?

TANGO2-related disease is not yet named but is referred to as “metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration”. It is also known as TANGO2-related disorder, TANGO2 disorder or TANGO2 disease.

What are the Symptoms of TANGO2-related deficiency disorder?

Although there are some common symptoms and conditions across those affected by TANGO2 disease, there is also broad variability in terms of presentation and severity of them for each individual. In all cases though, the potential for rhabdomyolysis and life-threatening cardiac arrhythmia brought on by metabolic crisis is always there.

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THE Impact OF TANGO2

Primary symptoms

Metabolic Crisis: a serious condition caused by low blood sugar and the build-up of toxic substances in the blood.

Rhabdomyolysis: a breakdown of muscle tissue that releases a damaging protein into the blood

Cardiac Arrhythmias: life-threatening ventricular tachycardia (fast heart rate)

Other important symptoms

Intellectual Disability: developmental delay is present in almost all individuals with varying severity

Regression: Loss of previously acquired motor, verbal and cognitive skills

Poor Coordination and Unsteady Gait: Poor coordination, unsteady gait, or clumsiness
is frequently reported in individuals who are walking

Episodic Muscle Weakness: recurrent episodes of muscle weakness in hands, limbs or trunk that can last minutes, hours or days

Benign Paroxysmal Torticollis (BPT): periods of unusual, sustained posturing of the head and neck, during which the head tilts to one side

Seizures: Seizures are observed in more than 75% of individuals

Our Supporters

The mission of the TANGO2 Research Foundation is to lead the way in finding a cure for TANGO2 deficiency disorder.

The TANGO2 Research Foundation website, based in the US, has a wealth of information and links to help you understand more about this condition and be up to speed with best practice management and treatments.

TANGO2 RESEARCH FOUNDATION

What is TANGO2?

THE Impact OF TANGO2

Primary symptoms

Other important symptoms

Our Supporters

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