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Symptoms

    Home Symptoms

    Primary Symptoms

    (Reference: TANGO2-Related Metabolic Encephalopathy and Arrhythmias  – GeneReviews – Jan 2018)
    (Reference: NORD – TANGO2 Related Metabolic Encephalopathy and Arrhythmias – NORD – Sep 2018)
    Metabolic Crisis
    • May include hypoglycemia, hyperlactacidemia, and mild hyperammonemia.
    • Urine organic acids can show marked ketoacidosis and lactic acidosis.
    • Acylcarnitine profiles may show elevated C14:1 in some individuals and elevated C10 in others.
    • Metabolic abnormalities typically normalize after the metabolic crisis, although some individuals continue to have mildly elevated Creatine phosphokinase (CPK) levels.
    Rhabdomyolysis
    • Majority of individuals present with intermittent acute episodes of rhabdomyolysis.
    • Dark urine due to myoglobinuria and profound lower-extremity weakness can develop.
    • Acute renal tubular damage due to myoglobinuria can result in acute kidney injury and renal failure.
    • Creatine phosphokinase (CPK) can be significantly elevated in some individuals (>200,000 U/l).
    • Elevated aldolase and transaminases can also occur
    Variable Acute Presentation
    • Acute presentation can vary from profound muscle weakness, ataxia, and/or disorientation to a comatose state
    Cardiac Arrhythmias
    • During acute illness, transient electrocardiogram (ECG) changes can be seen, most commonly QT prolongation and rarely Brugada type I pattern.
    • Life-threatening recurrent ventricular tachycardia (VT) or torsade de pointes can occur primarily during times of acute illness and metabolic crises and can result in hemodynamic instability.

    Other Important Symptoms Contributing to Diagnosis

    Intellectual Disability
    • Intellectual disability/developmental delay is present in almost all individuals with varying severity
    Regression
    • Loss of motor and cognitive skills
    Poor Coordination and Unsteady Gait
    • Poor coordination, unsteady gait, or clumsiness is frequently reported in individuals who are walking even prior to the first episode of metabolic crisis or rhabdomyolysis
    Increased Tone
    • Muscles are tight and tense even at rest with reduced capacity to stretch.
    • Can lead to spasticity and rigidity
    Episodic Muscle Weakness
    • Unable to sit without falling
    • Difficulty with grasping items/toys
    • SEE VIDEOS
    Benign Paroxysmal Torticollis (BPT)
    • BPT typically manifests as a head tilt to one side for a few hours or days. It may not be affected by sleep. Spells can last as little as 10 minutes or as long as 2 months.
    • SEE VIDEOS
    Hyperreflexia
    • Overactive reflexes
    Clonus
    • A series of involuntary, rhythmic, muscular contractions and relaxations
    • SEE VIDEOS
    Dysarthria
    • A motor speech disorder characterized by poor articulation
    Myopathic facies
    • Facial appearance with bilateral ptosis (droopy eyes) and inability to elevate the corners of the mouth due to muscle weakness
    Seizures
    • Seizures are observed outside of crises in more than 75% of individuals including generalized myoclonic seizure and atonic seizures.
    • Seizures are generally responsive to antiepileptic medications
    Brain Imaging Abnormalities
    • MRI may show cerebral volume loss.
    • Some affected individuals had prominent lateral ventricles, with progressive brain atrophy.
    • Some individuals have normal brain imaging studies.
    Hypothyroidism
    • Hypothyroidism has been reported in more than one third of individuals with TANGO2-related illness.
    • Elevated serum thyroid stimulating hormone (TSH) and low free T4
    Ophthalmology
    • Intermittent exotropia (lazy eye) has been observed in most individuals.
    • Rare individuals have been diagnosed with optic atrophy.
    Other Episodic (non-seizure) Symptoms
    • can include torticollis, instant onset fatigue, loss of muscle control, weakness, dizziness/balance issues, garbled speech, drooling, swallowing issues, dystonia, and/or clonus
    • Presentation and duration can vary with each episode
    • They can be instant onset and are sometimes alleviated by sleep.
    • SEE VIDEOS
    Hearing Loss
    • Sensorineural hearing loss has been described in rare instances.

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    Our Mission

    Our mission is to lead the way in finding a cure for TANGO2 related disease. We will do this by helping to fund, coordinate and guide scientific research that leads to a better understanding of how TANGO2 mutations affect people at the most basic cellular and biochemical pathway levels.

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    • About TANGO2
      • Symptoms
      • Early Signs of TANGO2
    • For Families
      • New Diagnosis
      • TANGO2 Study Now Underway
      • Our Stories
      • TANGO2 Conference – Houston 2019
      • Family Resources
      • Sammy’s Angels
      • Submit Your Story
    • Get Involved
      • Volunteer
      • Ways to Give
      • Fundraising Ideas
      • Apply For Grants (Researchers)
    • Research
    • About Us
      • Our Mission & History
      • Our Leadership
      • Scientific Advisory Board
      • Blog
      • Committees – CALL FOR VOLUNTEERS
      • Press Kit
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