& SYMPTOMS

Primary Symptoms
Metabolic Crisis |
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Rhabdomyolysis |
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Variable Acute Presentation |
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Cardiac Arrhythmias |
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Other Important Symptoms Contributing to Diagnosis
Intellectual Disability |
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Regression |
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Poor Coordination and Unsteady Gait |
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Increased Tone |
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Episodic Muscle Weakness |
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Benign Paroxysmal Torticollis (BPT) |
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Hyperreflexia |
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Clonus |
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Dysarthria |
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Myopathic facies |
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Seizures |
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Brain Imaging Abnormalities |
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Hypothyroidism |
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Ophthalmology |
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Other Episodic (non-seizure) Symptoms |
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Hearing Loss |
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(Reference: TANGO2-Related Metabolic Encephalopathy and Arrhythmias – GeneReviews – Jan 2018)
(Reference: NORD – TANGO2 Related Metabolic Encephalopathy and Arrhythmias – NORD – Sep 2018)
Early, non-acute signs of TANGO2-related disease may include a combination of the following symptoms:
- Benign Paroxysmal Torticollis (Head Tilt)
- Developmental delay
- Hypothyroidism
- Regression of cognitive and/or physical abilities
- Episodic muscle weakness / alternating hemiplegia of childhood
- Poor coordination
- Clonus
- Other Episodic (non-seizure) Symptoms
- Extreme fatigue, drooling, dizziness, garbled speech, swallowing issues, dystonia
- Unsteady gait
- Increased tone
- Eye issues (Exotropia (lazy eye), ptosis)