TANGO2-Related Metabolic Encephalopathy and Arrhythmias
Alternate names[edit | edit source]
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; TANGO2; Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2 related disease
Definition[edit | edit source]
TANGO2-related metabolic encephalopathy and arrhythmias is a disease that can cause episodes of metabolic crises and abnormal heart rhythms (arrhythmia).
Summary[edit | edit source]
- A metabolic crisis is caused by having low blood sugar (hypoglycemia) and the buildup of toxic products in the blood.
- A metabolic crisis can occur in any person with a metabolic disorder, and they are more likely to occur after a person has gone long periods without eating or during an illness.
Epidemiology[edit | edit source]
The disease is most common in people who are of Caucasian or Hispanic/Latino descent.
Cause[edit | edit source]
TANGO2-related metabolic encephalopathy and arrhythmias is caused by a genetic change (mutation or pathogenic variant) in the TANGO2 gene.
Inheritance[edit | edit source]
The disease is inherited in an autosomal recessive manner.
Onset[edit | edit source]
Signs and symptoms of the disease are most likely to first occur during infancy or early childhood.
Signs and symptoms[edit | edit source]
- Most people with TANGO2-related metabolic encephalopathy and arrhythmias present with symptoms of a breakdown of muscle tissue (rhabdomyolysis).
- This can cause kidney damage and symptoms include fatigue, muscle weakness, and having a dark color of the urine.
- Other symptoms of TANGO2-related metabolic encephalopathy and arrhythmias include developmental delay, intellectual disability, seizures, hearing loss, low thyroid function (hypothyroidism) and trouble coordinating movements (ataxia).
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Elevated serum creatine kinase(Elevated blood creatine phosphokinase)
- EMG: myopathic abnormalities
- Increased serum lactate
- Intellectual disability(Mental deficiency)
- Ketonuria
30%-79% of people have these symptoms
- Abnormality of extrapyramidal motor function
- Acute rhabdomyolysis
- Arrhythmia(Abnormal heart rate)
- Ataxia
- Compensated hypothyroidism
- Delayed ability to walk
- Delayed speech and language development(Deficiency of speech development)
- Developmental regression(Loss of developmental milestones)
- Elevated hepatic transaminase(High liver enzymes)
- Feeding difficulties in infancy
- Gastrointestinal dysmotility
- Global brain atrophy(Generalized brain degeneration)
- Hyperammonemia(High blood ammonia levels)
- Incoordination(Difficulties in coordination)
- Lactic acidosis(Increased lactate in body)
- Moderate global developmental delay
- Prolonged QT interval
5%-29% of people have these symptoms
- Amblyopia(Lazy eye)
- Babinski sign
- Bilateral tonic-clonic seizure(Grand mal seizures)
- Cerebral visual impairment
- Clonus
- Dysphagia(Poor swallowing)
- Dystonia
- Elevated plasma acylcarnitine levels
- Focal impaired awareness seizure
- Generalized myoclonic seizure
- Generalized tonic seizure
- Hypertonia
- Hypertrophic cardiomyopathy(Enlarged and thickened heart muscle)
- Hypoglycemic seizures
- Infantile spasms
- Microcephaly(Abnormally small skull)
- Mild global developmental delay
- Multifocal seizures
- Nystagmus(Involuntary, rapid, rhythmic eye movements)
- Optic atrophy
- Premature pubarche(Premature pubic hair growth)
- Premature thelarche(Premature breast development)
- Sensorineural hearing impairment
- Severe global developmental delay
- Spastic diplegia
- Spastic tetraplegia
- Stroke
- Supranuclear gaze palsy
1%-4% of people have these symptoms
- Global developmental delay
- Hypoglycemia(Low blood sugar)
- Prolonged QTc interval
- Seizure
- Torsade de pointes
- Ventricular tachycardia
Diagnosis[edit | edit source]
- The disease may be suspected in people who have a metabolic crisis, episodes of rhabdomyolysis, and arrhythmias.
- The diagnosis can be confirmed with genetic testing.
Treatment[edit | edit source]
Acute presentation:
- Early management during episodes of metabolic crises with aggressive intravenous hydration and urine alkalinization.
- Cardiac monitoring should include an early electrocardiogram (ECG), continuous ECG monitoring, and an echocardiogram to determine cardiac function. Arrhythmia management by an electrophysiologist is preferred
- Monitor electrolytes and treat as necessary to maintain normal levels of potassium, magnesium, and glucose
- Levothyroxine for hypothyroidism and steroid treatment for adrenal insufficiency, if determined. .
Non-acute presentation: Standard treatment of developmental delay/intellectual disability levothyroxine is the treatment of choice for hypothyroidism. Antiepileptics have been used for management of seizures.[1][1].
References[edit | edit source]
- ↑ Lalani SR, Graham B, Burrage L, et al. TANGO2-Related Metabolic Encephalopathy and Arrhythmias. 2018 Jan 25 [Updated 2018 Dec 20]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK476443/
NIH genetic and rare disease info[edit source]
TANGO2-Related Metabolic Encephalopathy and Arrhythmias is a rare disease.
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