Tay-Sachs Disease (TSD)

information and disease incidence

TSD is an autosomal genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child. Every individual carries two copies of each autosomal gene, one copy from each parent. Autosomal diseases occur when a child has two defective copies of an autosomal gene TSD presents itself with deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four. TSD is reltivaley rare.

Symptoms of TSD
A baby born with Tay-Sachs develops normally in the first 3 to 6 months of life. During the next months or even years the baby will progressively lose the ability to see, hear, and move. A red spot will develop in the back of the child's eyes. The child will stop smiling, crawling, turning over, and reaching out for things.

Andrei Loghin Period 4

support groups and websites

www.rarediseases.info.nih.gov www.hhmi.org www.ncbi.nlm.nih.gov www.cdc.gov National Tay-Sachs and Allied Diseases Association, Inc. (NTSAD) 2001 Beacon Street, Suite 204 Brighton, MA 02135 (800) 906-8723 www.ntsad.org

Treatments And Research

There is currently no cure for TSD. however, children who are approaching complete disabilatation can be intubated both for oxygen supply and as a feeding tube. Medication can also be taken in order to avoid seizures. Therapy can also be performed on affected children to relax muscles and joints and to retain the abiltiy to move as much as possible. Research has been done to slow down or cure TSD. Bone marrow transplants can be done in order to reverse damage done to the central nervous system. Scientists are exploring enzyme replacement therapy to provide the hexosaminidase-A (HEXA) that is lacking in babies with Tay-Sachs. HEXA is an enzyme that breaks down lipids and prevents buildup in brain and ocular cells.

Genetic Alliance, Inc. 4301 Connecticut Ave. NW, Suite Washington, DC 20008 (202) 966-5557 www.geneticalliance.org

References
www.wikipedia.org www.ntsad.org www.geneticalliance.org kidshealth.org www.curetay-sachs.org www.bc.edu