TalkFast Facts About Niemann-Pick Disease
The last Ashkenazi Jewish genetic condition left for me to cover, aside from Cystic Fibrosis which has high carrier rates for all people with Caucasian ancestry (1/25), is Niemann-Pick disease. There are five subtypes of Niemann-Pick disease, though only Type A is more frequent in Ashkenazi Jewish populations.
- Niemann-Pick disease Type A is a neurodegenerative disorder that causes babies to experience feeding difficulty, recurrent vomiting, and enlargement of the spleen and liver. Like Tay-Sachs disease, a child’s decline can be rapid and death usually occurs by 3-5 years of age, due to infections such as pneumonia.
- 1 in 80 Ashkenazi Jews are carriers of Niemann-Pick Type A.
- Genetic testing can tell whether you are an unaffected carrier of Fanconi anemia. Testing detects 99% of carriers for Niemann-Pick Type A.
- Niemann-Pick Type A is inherited in an autosomal recessive fashion, which means that in order for a child to be affected, he or she must inherit two copies of the gene change — one from each parent. If your partner is also a carrier, you have a 1 in 4 chance of having a child with Niemann-Pick Type A disease.
- National Niemann-Pick Disease Foundation
- Other Ashkenazi Jewish genetic conditions
- DNA Direct’s FAQs on Ashkenazi Jewish genetic testing
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