by Jenna Hollenstein, MS, RD
En Espaol (Spanish Version) Tay-Sachs disease (TSD) is a fatal genetic disorder. It occurs when harmful amounts of ganglioside GM2, a fatty substance, accumulate in the brain's nerve cells causing progressive destruction . There are infantile-, juvenile-, and adult-onset forms. Given the best of care, all children with the infantile form of TSD die by the age of five.
TSD is caused by the absence of the enzyme beta-hexosaminidase A. This enzyme breaks down GM2. TSD is controlled by a pair of genes on chromosome 15. Those who have one copy of an active gene and one copy of an inactive gene are called TSD carriers. TSD occurs when both parents pass on the inactive gene to their child.
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A risk factor is something that increases your chance of getting a disease or condition.Risk factors 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.
Babies with TSD may seem to develop normally until about 4 to 5 months of age when there is an arrest of development and symptoms begin to occur. Symptoms may include:
Floppy body positionShrill cryDecreased eye contactIncreased startle reactionLoss of motor skillsEnlarged headVision loss or blindnessDeafnessDifficulty swallowingSlurred speech (juvenile-onset form) Muscular difficulties, such as: Spastic musclesWeakness or paralysisMental retardationSeizures DiagnosisThe doctor will ask about your child's symptoms and medical history, and perform a physical exam. The doctor may examine your child's eyes to look for a cherry red spot on the retina that may occur in TSD.A blood test to measure hexosaminidase A activity can also help diagnose TSD. TreatmentThere is presently no treatment for TSD. However, research is ongoing into different therapeutic modalities, such as substrate deprivation. PreventionThere are no known ways to prevent Tay-Sachs disease once a person is born. If you are a carrier of the inactive gene that causes TSD, you can talk to a genetic counselor before deciding to have children. Prenatal testing during the first trimester is available. RESOURCES: Genetic Alliancehttp://www.geneticalliance.org March of Dimes Birth Defects Foundationhttp://www.marchofdimes.com National Tay-Sachs & Allied DiseasesAssociation, Inc.http://www.ntsad.org CANADIAN RESOURCES:
Caring for Kids, The Canadian Paediatric Societyhttp://www.caringforkids.cps.ca/ Ontario March of Dimeshttp://www.dimes.on.ca/asp/home.asp References: Filho JAF, Shapiro BE. Tay-Sachs disease. Arch Neurol . 2004; 61:1466-1468. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov . National Tay-Sachs & Allied Diseases Association, Inc. website. Available at: http://www.ntsad.org . Nelson Textbook of Pediatrics . 18th ed. WB Saunders; 2007. Last reviewed February 2008 by Kari Kassir, MDPlease be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
