Tay -Sachs disease

1. Tay-Sachs disease Emily Rowland

2. General Information • Tay-Sachs Disease is caused when a person lacks hexosaminidaseA, a protein that breaks down damaging chemicals in nerve cells. Because of the absense of hexosaminidase A, those chemicals build up, causing the disease • Genetically, the disease is caused by a defect in chromosome 15. Although the child must inherit it from both parents in order to have the disease, they only need to inherit the disease from one parent in order to become a carrier themselves. When the child has inherited the disease from both parents, it has a 25% chance of actually developing it

3. Genetics • Genetically, the disease is caused by a defect in chromosome 15. Although the child must inherit it from both parents in order to have the disease, they only need to inherit the disease from one parent in order to become a carrier themselves. When the child has inherited the disease from either one or both parents, it has a 25% chance of actually developing it

4. Signs and Symptoms Symptoms usually appear when the diseased person is 3 to 6 months old. The disease tends to get worse very quickly, and the child usually dies by age 4 or 5. If a doctor suspects the disease, they will usually run a physical examination. • Deafness • Decreased eye contact, blindness • Decreased muscle tone (loss of muscle strength) • Delayed mental and social skills • Dementia • Increased startle reaction • Irritability • Listlessness • Loss of motor skills • Paralysis or loss of muscle function • Seizures • Slow growth

5. Population stats • The disease is most common in the Ashkenazi Jewish population. While one in 27 people in their population are carriers, one in 250 people are carriers outside of the Ashkenazi Jewish population. It’s hard to say how many people have it per year considering that most babies who develop it die within their first 3 to 6 months of living.