East

East Syndrome is a rare genetic disorder characterized by a triad of symptoms: epilepsy, ataxia, and sensorineural hearing loss. The syndrome is also known as Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (EAST). It is caused by mutations in the KCNJ10 gene, which encodes a potassium channel protein expressed in the brain, inner ear, and kidney.

Symptoms and Signs

The most common symptoms of East Syndrome include:

• Epilepsy: Seizures often begin in infancy and can be resistant to treatment. They can be generalized or focal, and may include infantile spasms.
• Ataxia: Problems with balance and coordination can lead to difficulty walking.
• Sensorineural hearing loss: This type of hearing loss is caused by damage to the inner ear or nerve pathways from the ear to the brain.
• Tubulopathy: This refers to dysfunction of the tubules in the kidneys, which can lead to electrolyte imbalances and other problems.

Causes

East Syndrome is caused by mutations in the KCNJ10 gene. This gene provides instructions for making a protein that forms a channel for potassium ions to pass through cell membranes. The protein is found in the brain, inner ear, and kidneys, which explains the symptoms of the syndrome.

Diagnosis

Diagnosis of East Syndrome is based on the presence of the characteristic triad of symptoms and confirmed by genetic testing showing a mutation in the KCNJ10 gene.

Treatment

Treatment of East Syndrome is symptomatic and supportive. Seizures may be treated with antiepileptic drugs, and hearing aids may be used for sensorineural hearing loss. Physical therapy can help with ataxia, and electrolyte imbalances can be managed with medication.

Prognosis

The prognosis for individuals with East Syndrome varies. Some individuals may have a normal lifespan with appropriate management of symptoms, while others may have a shortened lifespan due to complications of the disease.

See Also

• Epilepsy
• Ataxia
• Sensorineural hearing loss
• Tubulopathy
• KCNJ10

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