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EAST syndrome

MeSH: C557674ORPHA: 199343

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with EAST syndrome, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilitySeizureAtaxiaGlobal developmental delayGeneralized-onset seizureHypokalemiaHypomagnesemiaRenal magnesium wastingAbnormal urinary electrolyte concentrationRenal sodium wastingSalt cravingMetabolic alkalosisEnuresisPolydipsiaAction tremorCerebellar atrophyGait disturbanceAbsent speechInability to walkPeripheral axonal neuropathyPeripheral hypomyelinationLower limb muscle weaknessRenal salt wastingSensorineural hearing impairmentIncreased circulating renin concentrationIncreased circulating aldosterone concentration

Classification & Codes

MeSH Code

C557674

Orphanet Code

ORPHA:199343
EAST syndrome
MeSHC557674
OrphanetORPHA:199343
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO