Tay-Sachs Disease
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PRESENTATION OUTLINE
TAY-SACHS DISEASE
OWEN, JORDAN.T, JORDAN.N
WHAT IT CAN AFFECT
- It can affect chromosome 15
- It is caused by a genetic mutation in the HEXA gene
- It is an inherited disease
NATURE OF THE DISORDER
- Feeling faint
- Muscle weakness
- Stiff muscles
- Seizures
- Vision and hearing lose
- Harder to move
- Lack of energy
NATURE OF THE DISORDER (CONTINUED...)
- It has 20,000 cases per year most commonly 0-5 year olds are affected.
- If you have this disease then your mostly likely to die at age 4.
- Most of the population the disease comes from is if both of the parents are carriers which will give the child a 25% chance of having the disease and a 50% chance of being a carrier.
NATURE OF THE DISORDER (CONTINUED...)
- The Life Expectancy starts when the baby is about six months old, the challenges are blindness when they're about 1-2, next is there movement will become paralyzed and they won't be able to move when they're about 3-4, last after all of that has happened they are most likely to die at the age of 4.
TREATMENTS
- There is no way to cure it but treatment may help.
- Tay-Sachs disease can be detected before birth, it can be detected by getting screened and a simple blood test.
- They can treat the disorder by preventing problems with the lungs and airways, so it decreases the chance of lung infections.
TREATMENTS (CONTINUED)
- There are researches going on to find the cure for the disease, the best gene therapy for the cure is the enzyme replacement therapy which will provide a replacement of the HEXA enzyme.
