EAST syndrome

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EAST syndrome

EAST syndrome (pronounced: /i:st sɪndroʊm/), also known as SeSAME syndrome, is a rare genetic disorder. The name EAST is an acronym derived from the main features of the syndrome: Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy[1].

Etymology

The term EAST syndrome was first coined in 2010 by Bockenhauer et al., who identified the syndrome in a family with four affected members. The name is an acronym for the main features of the syndrome: Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy[2].

Symptoms

The main symptoms of EAST syndrome include:

  • Epilepsy: A neurological disorder marked by sudden recurrent episodes of sensory disturbance, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain.
  • Ataxia: The loss of full control of bodily movements.
  • Sensorineural deafness: A type of hearing loss resulting from damage to the inner ear or the nerve from the ear to the brain.
  • Tubulopathy: A disease affecting the tubules of the kidneys.

Genetics

EAST syndrome is caused by mutations in the KCNJ10 gene. This gene provides instructions for making a protein that forms potassium channels, which play a key role in a cell's ability to generate and transmit electrical signals[3].

Diagnosis

Diagnosis of EAST syndrome is based on the presence of the four main features. Genetic testing can confirm a diagnosis by identifying a mutation in the KCNJ10 gene.

Treatment

Treatment for EAST syndrome is symptomatic and supportive. This may include antiepileptic drugs for seizures, physical therapy for ataxia, hearing aids for sensorineural deafness, and medications to manage kidney problems.

See also

References

External links

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