EAST syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: 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

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

Newly diagnosed with
EAST syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

National Ataxia Foundation

Ataxia is a rare neurological disease affecting tens of thousands of people in the US and many thousands more around the world. It is progressive, affecting a person’s ability to walk, talk, and use fine motor skills. The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.