Tay Sachs DiseaseLinda Lu

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

Diagnosis

blood test to check the levels of HEXA red cherry spot of the retina

Treatment/Management

No treatment or cure There are few ways to manage the

symptoms

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