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EAST syndrome

Disease definition

A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.

ORPHA:199343

Classification level: Disorder
  • Synonym(s):
    • Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
    • Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
    • SeSAME syndrome
    • Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
    • Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G40.4
  • OMIM: 612780
  • UMLS: C2748572
  • MeSH: -
  • GARD: 10514
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.