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 April 2024
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EAST syndrome?
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Advocacy Organizations
Ataxia and me
To relieve the needs of sufferers of Ataxia or other neurological disorders, their families and carers for the public benefit by providing patient led support and by raising awareness of such conditions."
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
National Ataxia Foundation
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.