SeSAME syndrome

Disease Overview

SeSAME syndrome is characterized by  Seizures, Sensorineural deafness, Ataxia (lack of muscle coordination), intellectual (Mental) disability, and Electrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis). It may also be known as EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney problems in the structures known as tubules)).[11323] Seizures tend to start in early childhood. The seizures are typically of the generalized tonic-clonic seizure type (also known as grand mal seizures), but they usually respond well to medication. Non-progressive, cerebellar ataxia and hearing loss start later. The ataxia seems to be the most debilitating feature of the syndrome. It is caused by mutations in the KCNJ10 gene, and inherited in an autosomal recessive pattern. Treatment includes antiepileptic medication, physical, educational and speech therapy, hearing aid and management of the kidney and electrolytes problems.[11323][11324]

Synonyms

• Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
• Epilepsy, ataxia, sensorineural deafness and tubulopathy
• EAST syndrome
• Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
• Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance
• Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome