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  3. SeSAME syndrome
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SeSAME syndrome


Información en español Title


Other Names:
Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; Epilepsy, ataxia, sensorineural deafness and tubulopathy; EAST syndrome; Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; Epilepsy, ataxia, sensorineural deafness and tubulopathy; EAST syndrome; Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance; Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome See More
Categories:
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Kidney and Urinary Diseases; Nervous System Diseases See More

Summary Summary


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SeSAME syndrome is characterized by  Seizures, Sensorineural deafness, Ataxia (lack of muscle coordination), intellectual (Mental) disability, and Electrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis). It may also be known as EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney problems in the structures known as tubules)).[1] Seizures tend to start in early childhood. The seizures are typically of the generalized tonic-clonic seizure type (also known as grand mal seizures), but they usually respond well to medication. Non-progressive, cerebellar ataxia and hearing loss start later. The ataxia seems to be the most debilitating feature of the syndrome. It is caused by mutations in the KCNJ10 gene, and inherited in an autosomal recessive pattern. Treatment includes antiepileptic medication, physical, educational and speech therapy, hearing aid and management of the kidney and electrolytes problems.[1][2]
Last updated: 4/22/2016

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 33 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal renal tubule morphology 0000091
Ataxia 0001251
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Global developmental delay 0001263
Intellectual disability, moderate
IQ between 34 and 49
0002342
Seizures
Seizure
0001250
Sensorineural hearing impairment 0000407
30%-79% of people have these symptoms
Abnormality of the mitochondrion 0012103
5%-29% of people have these symptoms
Chronic axonal neuropathy 0007267
Peripheral hypomyelination 0007182
Short stature
Decreased body height
Small stature
[ more ]
0004322
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Cerebellar atrophy
Degeneration of cerebellum
0001272
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
0000750
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Enuresis 0000805
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Hyperaldosteronism
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production
[ more ]
0000859
Hypocalciuria
Low urine calcium levels
0003127
Hypokalemia
Low blood potassium levels
0002900
Hypokalemic metabolic alkalosis 0001960
Hypomagnesemia
Low blood magnesium levels
0002917
Increased circulating renin level
Elevated blood renin level
0000848
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Intention tremor 0002080
Muscular hypotonia
Low or weak muscle tone
0001252
Polydipsia
Extreme thirst
0001959
Polyuria
Increased urine output
0000103
Renal potassium wasting 0000128
Renal salt wasting
Loss of salt in urine
0000127
Renal sodium wasting 0012606
Salt craving 0030083
Showing of 33 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Epilepsy Action
    New Anstey House Gate Way Drive
    Yeadon, LEEDS LS19 7XY
    United Kingdom
    Telephone: 0113 210 8800 (UK) or +44 (0)113 210 8800 (international)
    Fax: 0113 391 0300 (UK) or +44 (0)113 391 0300 (international)
    E-mail: epilepsy@epilepsy.org.uk
    Website: https://www.epilepsy.org.uk/
  • Epilepsy Foundation
    8301 Professional Place East
    Suite 230
    Landover, MD 20785
    Toll-free: 800-332-1000 (24/7 Helpline)
    Telephone: +1-301-459-3700
    Fax: +1-301-577-2684
    E-mail: contactus@efa.org
    Website: https://www.epilepsy.com/
    en Español 1-866-748-8008
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss SeSAME syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Síndrome EAST. Orphanet. October, 2009; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=18406.
  2. Cross JH. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol. September, 2013; 55(9):846-56. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298033/.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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Find out how with the NCATS Toolkit.

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