Tay-Sachs Flashcards
What parts of the brain are affected?
cerebellum, basal ganglia, brain stem, spinal cord, and autonomic nervous system
What happens in Tay-Sachs disease
it is an autosomal recessive disorder where hexosaminidase A, needed to digest GM2 ganglioside is missing. as a result GM2 ganglioside accumulates in the lysosomes of organs like the heart liver and spleen but it causes the most damage to the nervous system and retina.
What type of disease is Tay-Sachs disease
lysosomal storage disease
What ethnicity is effected most by Tay-ball sachs
Jewish
What is the carrier rate of jews
1 in 30
It is also considered what type of disease
neurodegenerative
What is a sign the retina has been affected
cherry-red spot on the macula
What manifests between a child 6 to 10 months old
progressive weakness, muscle flacidity, and decreased attentiveness
What rapidly follows in affected children after 6 to 10 months
deterioration of motor and mental function and seizures
What is deficient in Tay-ball sachs disease?
Hexosaminidase A
How quickly does this disease become fatal
before 4-5 years of age
Can Tay-Sachs disease cause vision or hearing loss or both
both
