A-Z Syndromes: Tay-Sachs disease
An insight into this genetic disorder which carries a poor prognosis and is often fatal
Tay-Sachs disease is an autosomal recessive genetic disorder, which results from getting two copies of a defective gene on chromosome 15. Males and females can be carriers and although the disease can affect all races, it was most commonly seen among people of eastern European (Ashkenazi) Jewish descent until a population screening was introduced for Jewish individuals of reproductive age ( Kaback and Desnick 2011 ). Tay-Sachs disease carries a poor prognosis and is often fatal.
Counselling, carrier testing for at-risk family members and the...
Want to read more?
Unlock full access to RCNi Plus today
Save over 50% on your first three months:
- Customisable clinical dashboard featuring 200+ topics
- Unlimited online access to all 10 RCNi Journals including Nursing Children and Young People
- RCNi Learning featuring 180+ RCN accredited learning modules
- NMC-compliant RCNi Portfolio to build evidence for revalidation
- Personalised newsletters tailored to your interests