EAST syndrome

Autosomal recessive inheritance

EAST syndrome (also known as SeSAME syndrome) is a rare genetic disorder characterized by a combination of epilepsy, ataxia, sensorineural hearing loss, and tubulopathy. The acronym EAST stands for Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy. This condition is caused by mutations in the KCNJ10 gene, which encodes an inwardly rectifying potassium channel.

Clinical Features

Individuals with EAST syndrome typically present with the following clinical features:

• **Epilepsy**: Seizures are a common manifestation and can vary in type and severity.
• **Ataxia**: Patients often exhibit difficulties with coordination and balance.
• **Sensorineural hearing loss**: Hearing impairment is usually present from birth or early childhood.
• **Tubulopathy**: This refers to a dysfunction of the renal tubules, leading to issues such as electrolyte imbalances and metabolic acidosis.

Genetics

EAST syndrome is inherited in an autosomal recessive manner. Mutations in the KCNJ10 gene disrupt the function of the potassium channel, which is crucial for maintaining the electrical excitability of neurons and the function of the renal tubules.

Diagnosis

The diagnosis of EAST syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the KCNJ10 gene. Additional tests may include:

• Electroencephalogram (EEG) to assess seizure activity.
• Audiometry to evaluate hearing loss.
• Magnetic resonance imaging (MRI) to examine brain structure.
• Blood and urine tests to detect electrolyte imbalances and renal function.

Management

There is no cure for EAST syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Antiepileptic drugs to control seizures.
• Physical therapy and occupational therapy to address ataxia and improve motor skills.
• Hearing aids or cochlear implants for sensorineural hearing loss.
• Monitoring and treatment of renal issues, including electrolyte supplementation and dietary modifications.

Prognosis

The prognosis for individuals with EAST syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early diagnosis and intervention can improve the quality of life for affected individuals.

See Also

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

Related Pages

• Genetic disorder
• Autosomal recessive inheritance
• Potassium channel