130 top medical experts on SeSAME syndrome across 11 countries and 4 U.S. states, including 9 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. SeSAME syndrome: 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.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations

Organizations Providing General Support

  • Synonyms: EAST syndrome,  And Tubulopathy Sensorineural Deafness Ataxia Epilepsy,  sensorineural deafness and tubulopathy ataxia Epilepsy,  And Electrolyte Imbalance Mental Retardation Ataxia Sensorineural Deafness Seizures,  mental retardation and electrolyte imbalance ataxia sensorineural deafness Seizures


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