DefinitionTay-Sachs disease (TSD) is a genetic disorder. It occurs when a fatty substance builds up in the brain. This causes progressive destruction of the brain. There are three forms:
CausesTSD is caused by the absence of an enzyme. This enzyme is needed to break down a fatty substance called ganglioside (GM2). As a result, GM2 builds up. The build up in the brain causes damage.TSD occurs when both parents pass on the faulty genes. A person can have just one copy of the faulty gene. In this case, there are no symptoms. The person is called a carrier.
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Risk FactorsFactors that increase your chance for TSD include:
- Having parents who are carriers of the TSD gene
- Race: Eastern European (Ashkenazi) Jewish descent
- TSD is also frequently found in French Canadian and Cajun populations
SymptomsBabies with TSD may seem to develop normally until about 4-5 months of age when symptoms begin to occur. Symptoms may include:
- Floppy body position
- Shrill cry
- Decreased eye contact
- Increased startle reaction
- Loss of motor skills
- Enlarged head
- Vision loss or blindness
- Difficulty swallowing
- Muscular difficulties such as spastic muscles, weakness, or paralysis
- Intellectual disability
- Loss of the ability to speak
- Developmental delay and intellectual disability
- Loss of bowel control
- Sleep problems
- Movement disorder such as difficulty walking and muscle weakness
- Slurred speech
- Psychiatric problems
- Loss of vision
- Spasticity and seizures
DiagnosisThe doctor will ask about your child's symptoms and medical history. A physical exam will be done. The doctor may examine your child's eyes to look for a cherry red spot on the retina.Your child's bodily fluids may be tested. This can be done with blood tests.
TreatmentThere is presently no treatment for TSD. Treatment is aimed at managing symptoms.
PreventionThere are no known ways to prevent Tay-Sachs disease. If you are a carrier of the gene that causes TSD, you can talk to a genetic counselor before deciding to have children. Prenatal testing during the first trimester is available.
National Tay-Sachs & Allied DiseasesAssociation, Inc.
About Kids Health
Caring for Kids
The Canadian Paediatric Society
Filho JAF, Shapiro BE. Tay-Sachs disease. Arch Neurol. 2004; 61:1466-1468.
Tay-Sachs disease. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us. Updated January 16, 2012. Accessed August 9, 2013.
Tay-Sachs disease information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm. Updated October 6, 2011. Accessed August 9, 2013.
- Reviewer: Kari Kassir, MD; Michael Woods, MD
- Review Date: 08/2013
- Update Date: 05/11/2013
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