TAY SACHS DISEASE

Question 1

This disease is named after this British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye.

Answer 1

Warren Tay

Question 2

It is an autosomal recessive genetic disorder where the absence of an enzyme called betahexosaminidase A (HexA) causes fatty substances to build up in the brain and nerve cells, which damages the brain and spinal cord.

Answer 2

Tay-Sachs disease

Question 3

The absence of this enzyme causes a build-up of fatty substances.

Answer 3

Betahexosaminidase A

Question 4

TRUE OR FALSE:
If both parents are carriers, there is a 100% chance with each pregnancy that the child will be affected

Answer 4

FALSE; 25%

Question 5

What is the cause of Tay-Sachs disease?

Answer 5

Defective gene on chromosome 15

Question 6

What are the signs and symptoms of Tay-Sach’s disease?

Answer 6

• Deafness
• Decreased eye contact
• Blindness
• Decreased muscle tone (loss of muscle
• Loss of motor skills
• Paralysis
• Slow growth
• Delayed mental and social skills
• Dementia (loss of brain function) Increased
  startle reaction
• Irritability Seizures

Question 7

What are the characteristics that infants with Tay-Sachs may exhibit?

Answer 7

• Developmental delays
• Muscle weakness
• exaggerated startle response

Question 8

What are the laboratory tests done in Tay-Sachs disease?

Answer 8

• Hexosaminidase A
• DNA testing

Question 9

For couple at risk of Tay-Sachs disease, what are the possible that can be performed?

Answer 9

Prenatal testing

Question 10

These tests analyze fetal DNA for mutations in
the HEXA gene

Answer 10

chorionic villus sampling (CVS) or amniocentesis

Question 11

focused on reducing symptoms and improving quality of life

Answer 11

palliative care

Question 12

This respiratory disease has a lower chance of getting it if an individual has Tay-Sachs?

Answer 12

Tuberculosis

Question 13

primarily affects the nervous system, causing progressive deterioration of mental and physical abilities

Answer 13

Tay-Sachs disease

Question 14

To whom is Tay-Sachs disease named after?

Answer 14

WARREN TAY

Question 15

when did Warren Tay describe a patient
with a cherry-red spot on the retina of the eye?

Answer 15

1881

Question 16

Tay-Sachs disease is an autosomal recessive genetic disorder where the absence of an enzyme called?

Answer 16

BETA HEXOAMINIDASE A

Question 17

If both parents are carriers, what is the chance or probability in each pregnancy that a child will be affected?

Answer 17

25%

Question 18

Give one laboratory test for the diagnosis of Tay-Sachs disease

Answer 18

DNA TESTING