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 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 activities of beta hexosaminidase Beta hexosaminiase cannot break down GM2 ganglioside GM2 ganglioside accumulates to toxic levels and leads to destruction of neurons

Forms of Tay Sachs Disease 1) Classic Infantile- symptoms appear in 6 months of age 2) Juvenile- symptoms appear in age 2 to 5 3) 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

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