Miscellaneous
Is TSD more common in males or females?
It affects both equally
TSD is the most common in people of which heritage?
Ashkenazi Jews
What chromosome is affected by TSD?
Chromosome 15
What type of Tay-Sachs is the most common?
Infantile
What is the prognosis of an infant diagnosed with TSD?
Before the age of 5
When does Late-onset Tay-Sachs manifest?
Late 20's early 30'S
All the following have a higher risk of TSD besides which one?
1. Ashkenazi Jews
2. French Canadians
3. Eastern Europeans
4. Louisiana Cajuns
3. Eastern Europeans
How is TSD inherited?
Autosomal recessive
How many types of Tay-Sachs are there?
Three(Infantile, Juvenile, Late-Onset)
What is the prognosis of a kid diagnosed with juvenile TSD?
15
TSD causes cells to become clogged with large, undigested lipids. What organelle is defective?
1. Golgi apparatus
2. Lysosome
3. Smooth endoplasmic reticulum
4. Rough endoplasmic reticulum
2. Lysosome
What is the estimated carrier rate of TSD in Ashkenazi jews?
1/30
What type of Mutation is TSD?
Deletion
Which of the following is not a symptom of TSD?
1. Difficulty swallowing
2. Seizures
3. Skin rash
4. Muscle weakness
Skin rash
Which of the following is not a treatment for TSD?
1.Medication(anti-seizure)
2. Feeding tubes
3. Physical therapy
4. Radiation therapy
Which of the following is not an alternative name for Tay-Sechs Disease?
1. HEXA deficiency
2. Sphingolipidosis
3. GM2 gangliosidosis
4. Carnitine palmitoyltransferase II deficiency
4. Carnitine palmitoyltransferase II deficiency
What is the estimated carrier rate of TSD in the general population?
1/250
If both parents are carriers of Tay-Sachs, what are the chances that the child is born with TSD?
When do symptoms first appear?
6 months
There is no cure for TSD, but all of the following show potential besides which one?
1. Gene therapy
2. Vaccine
3. Chaperone therapy
4. Cord blood transplants
2. Vaccine
Who is Tay-Sachs Disease named after?
Warren Tay and Bernard Sachs
If you are a carrier of TSD what symptoms will affect you?
None
What gene is affected by TSD and what enzyme does the aforementioned gene normally produce?
Hexosaminidase(HEXA) gene is affected which normally produces the enzyme Hexosaminidase.
What is the most common test for TSD?
Blood test.
Looking for the absence/very low level of HEXA in the blood
What is the most common cause of death among people diagnosed with TSD?
Pneumonia