704864
Beschreibung
Mindmap von clairegillian95, aktualisiert more than 1 year ago
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Erstellt von clairegillian95
vor etwa 10 Jahre
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Tay Sachs Disease
- 6 months
- Asymptomatic
- Irritability
- Impaired startle response
- Infants can't sit
up or hold their
heads up
- Loss of neck
control; lets not
straight
- Loss of all motor
control, seizures,
blindness,
deafness, and
spasticity
- Asymptomatic
- Tay Sachs gene encodes
hexosaminidase A and is
found on chromosome 15
- Partially degraded
gangliosides
accumulate in the
lysosomes of the
nerve cells
- Lysosomal Storage Disease
- Autosomal recessive disease
- Prevalence of Tay Sachs Disease
- 1 in 3600 Ashkenazi Jewish births in the US
- Carrier frequency of 1 in 30 among Ashkenazi Jews
- Carrier frequency of 1 in 30 among Ashkenazi Jews
- 1 in 3600 Ashkenazi Jewish births in the US
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