What is EAST syndrome

EAST syndrome is a rare genetic disorder that affects the development and function of various organs in the body. It stands for "Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy."

Epilepsy: Individuals with EAST syndrome experience recurrent seizures, which can vary in severity and frequency. These seizures are caused by abnormal electrical activity in the brain.

Ataxia: Ataxia refers to a lack of muscle coordination, leading to difficulties with balance, coordination, and voluntary movements. People with EAST syndrome may have unsteady gait and trouble with fine motor skills.

Sensorineural deafness: Sensorineural hearing loss is a type of hearing impairment caused by damage to the inner ear or auditory nerve. Individuals with EAST syndrome may have varying degrees of hearing loss.

Tubulopathy: Tubulopathy refers to dysfunction of the renal tubules, which are responsible for filtering and reabsorbing substances in the kidneys. This can lead to electrolyte imbalances, impaired kidney function, and related complications.

EAST syndrome is typically diagnosed based on the presence of these four key features. Treatment focuses on managing the symptoms and may involve antiepileptic medications, physical therapy for ataxia, hearing aids or cochlear implants for hearing loss, and supportive care for renal issues.