EAST syndrome

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EAST syndrome

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 September 2023.

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Advocacy Organizations

National Ataxia Foundation

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 while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Clinical Trials

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