Download - Tay Sachs Disease
What is Tay Sachs Disease? - A rare genetic disorder that destroys neur
ons in the brain and the spinal cord - Results from a defect in a gene on chrom
osome 15
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
Cause
Caused by mutations in the HEXA gene Mutations in the HEXA gene disrupt the a
ctivities of beta hexosaminidase Beta hexosaminiase cannot break down
GM2 ganglioside GM2 ganglioside accumulates to toxic lev
els and leads to destruction of neurons
Forms of Tay Sachs Disease1) Classic Infantile- symptoms appear in
6 months of age 2) Juvenile- symptoms appear in age 2 to
53) Late Onset- symptoms appear in
adolescence or early adulthood
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
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
Research
Gene therapy Substrate inhibition Molecular
chaperones Bone marrow
transplant Stem cell therapy
Sources http://ghr.nlm.nih.gov/condition/tay-sachs-dise
ase http://www.ntsad.org/index.php/tay-sachs http://medical-dictionary.thefreedictionary.co
m/Tay-Sachs+disease http://medical-dictionary.thefreedictionary.co
m/Tay-Sachs+disease http://www.curetay-sachs.org/about.shtml http://www.intelihealth.com/IH/ihtIH/c/32193/3
5422.html http://biscgroup13f.weebly.com/genetic-
disorders---tay-sachs-disease.html