Conditions / Syndrome
TANGO2-related metabolic encephalopathy and arrythmias
info · Syndrome
A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Ataxia
- Lower limb spasticity
- Elevated circulating aldolase concentration
- Intellectual disability
- Elevated circulating aspartate aminotransferase concentration
- Absent speech
- Babinski sign
- Dysarthria
- Global developmental delay
Also known as: TANGO2 deficiency; metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration