East Syndrome - Medtick
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East Syndrome

What is it?

A disorder that affects several organs in the body.

  • The name EAST refers to:
    • Epilepsy (fits or seizures),
    • Ataxia (impaired movement coordination)
    • Sensorineural deafness (a specific kind of hearing impairment)
    • Tubulopathy (a kidney problem that affects salt levels in the body).
  •  The severity of symptoms can vary between individuals.
  • Seizures typically start in the first year of life.
  • The movement disorder is typically noted because of delayed childhood development.
  • In ataxia a person’s movements are wobbly and poorly coordinated and often associated with weakness.
  • Blood tests usually show a low concentration of potassium (hypokalaemia) and magnesium and a raised level of bicarbonate plasma (hypokalaemic alkalosis).
  • These features are permanent unless treated.
  • The EAST diagnosis can be confirmed by a genetic test.

Cause

  • Family history
    • Changes (mutations) in a gene called KCNJ10

Complications /Information to beware of/General tips:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

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