Tay-Sachs Disease

Question 1

What is Tay-Sachs disease?

Answer 1

A disorder of lipid metabolism caused by a mutation in the HEXA gene, which codes for the enzyme beta-hexosaminidase, which is required to break down GM2 ganglioside (fatty substance which can lead to destruction of neurons if allowed to accumulate)

Question 2

What are the symptoms of tay-sachs disease?

Answer 2

Loss of motor skills
Exaggerated reactions to loud noises
Seizures
Vision loss
Hearing loss
"cherry-red" spots in eyes
Muscle weakness
Movement problems

Question 3

What is the treatment for tay-sachs disease?

Answer 3

No cure.

Management involves:

• physical therapy
• respiratory care
• use of feeding tubes
• anti-seizure medication

Question 4

What is the inheritance of tay-sachs disease?

Answer 4

Autosomal recessive

Question 5

What is tay-sachs disease caused by?

Answer 5

A mutation in the HEXA gene

Question 6

What is the cytogenic location of the mutation for tay-sachs disease?

Answer 6

15q23

Question 7

Which populations have increased incidences of tay-sachs disease?

Answer 7

Ashkenazi jews
Cajun
Irish

Question 8

Individuals heterozygous for tay-sachs disease are…

Answer 8

…resistant to tuberculosis.