EAST syndrome

EAST syndrome is a rare condition that gets its name from several of the symptoms seen in people with this syndrome: Epilepsy (seizures), Ataxia (problems with coordination), Sensorineural deafness (hearing loss), and Tubulopathy (kidney issues leading to electrolyte imbalance). The syndrome is also sometimes referred to using terms that describe the various symptoms such as intellectual disability and electrolyte imbalances including low potassium, low magnesium, and metabolic alkalosis. The definition of the condition shows that it affects several body systems. It is recognized as being linked to a genetic mutation and has been observed to have a range of clinical features that may vary from one person to another. This summary provides a brief overview of the common elements associated with EAST syndrome based on available sources.

Common symptoms of EAST syndrome include seizures, difficulties with balance and coordination (ataxia), hearing loss due to sensorineural deafness, and intellectual challenges. In addition, electrolyte imbalances such as low potassium, metabolic alkalosis, and low magnesium are also observed, which may lead to further health complications.

EAST syndrome is linked to a genetic mutation. It is known that changes in the KCNJ10 gene are associated with the condition. This gene plays a role in the functioning of various body cells, and its mutation contributes to the range of symptoms seen in this syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.