Living with EAST syndrome
An inherited condition with seizures, hearing loss, balance problems, learning disability, and kidney-related salt and mineral imbalances.
Understanding EAST syndrome
The letters stand for Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney tube problems). Seizures tend to start in early childhood and are usually the grand mal type, which generally respond well to medicine. Balance problems and hearing loss start later. GARD says the ataxia seems to be the most disabling feature. Blood tests show low potassium and magnesium.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Poor balance and coordination (ataxia)
- Hearing loss (sensorineural)
- Intellectual disability
- Extreme thirst and salt craving
- Bedwetting (enuresis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in KCNJ10 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: National Ataxia Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Ataxia Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the KCNJ10 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: east (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome; epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome; epilepsy, ataxia, sensorineural deafness and tubulopathy; seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome; seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
- Epilepsy FoundationEpilepsy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with EAST syndrome.
Explore research for EAST syndrome
Explore actively recruiting EAST syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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