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Tay Sachs Disease

Tay Sachs Disease. Linda Lu. What is Tay Sachs Disease?. - A rare genetic disorder that destroys neurons in the brain and the spinal cord Results from a defect in a gene on chromosome 15. Genetic Pattern. autosomal recessive pattern carrier rate for the general population is 1/250

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Tay Sachs Disease

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  1. Tay Sachs Disease Linda Lu

  2. What is Tay Sachs Disease? - A rare genetic disorder that destroys neurons in the brain and the spinal cord • Results from a defect in a gene on chromosome 15

  3. Genetic Pattern • autosomal recessive pattern • carrier rate for the general population is 1/250 • carrier rate for French Canadians, Louisiana Cajuns, and Ashkenazi Jews is 1/27

  4. Cause • Caused by mutations in the HEXA gene • Mutations in the HEXA gene disrupt the activities of beta hexosaminidase • Beta hexosaminiase cannot break down GM2 ganglioside • GM2 ganglioside accumulates to toxic levels and leads to destruction of neurons

  5. Forms of Tay Sachs Disease • Classic Infantile- symptoms appear in 6 months of age • Juvenile- symptoms appear in age 2 to 5 • Late Onset- symptoms appear in adolescence or early adulthood

  6. Symptoms (Infantile) • Slow development after six months of age • Unable to crawl, reach out or sit • Loss of coordination • Inability to swallow • Breathing difficulty • Loss of muscle function, mental function and sight

  7. Symptoms (Juvenile and Late Onset) • Lack of coordination • Muscle weakness • Slurred speech • Swallowing difficulties • Muscle cramps • Loss of ability to walk • Prone to respiratory infections

  8. Diagnosis • blood test to check the levels of HEXA • red cherry spot of the retina

  9. Treatment/Management • No treatment or cure • There are few ways to manage the symptoms

  10. Research • Gene therapy • Substrate inhibition • Molecular chaperones • Bone marrow transplant • Stem cell therapy

  11. Sources • http://ghr.nlm.nih.gov/condition/tay-sachs-disease • http://www.ntsad.org/index.php/tay-sachs • http://medical-dictionary.thefreedictionary.com/Tay-Sachs+disease • http://medical-dictionary.thefreedictionary.com/Tay-Sachs+disease • http://www.curetay-sachs.org/about.shtml • http://www.intelihealth.com/IH/ihtIH/c/32193/35422.html • http://biscgroup13f.weebly.com/genetic-disorders---tay-sachs-disease.html

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