Tay-Sachs Disease Flashcards
1
Q
What are the symptoms of Tay-Sachs Disease?
A
Usually occurs in fetal stage and develops around 6 months
Can be late onset in juvenile age
Brain
- Delayed development
- Intellectual disabilites
- Speech problems
Muscles
- involuntary twitches
- seizures
- muscle weakness
Senses
- loss of vision
- loss of hearing
Digestion
-difficulty swallowing
Mobility
- inability to sit, crawl, turn ove
- paralysis
2
Q
What gene is involved in Tay-Sachs Disease?
A
HEXA gene defect (hemoxamindase subunit alpha)
Beta-hexosamindiase A
GM2 ganglioside
3
Q
What is the inheritance pattern for Tay-Sachs Disease?
A
Homozygous recessive (autosomal)
4
Q
What is the phenotype of the heterozygous in Tay-Sachs Disease?
A
Normal phenotype
50% less enzyme produce but is still sufficient
