Ashkenazi Jewish genetic diseases are a group of rare disorders that
occur more often in people of Eastern European (Ashkenazi) Jewish heritage than
in the general population. Even though most of these diseases are severe and
can cause early death, some can be treated to reduce symptoms and prolong life. Some of
these diseases can be found during pregnancy through
chorionic villus sampling (CVS) or
amniocentesis. This testing is done usually if one or
both parents are carriers of a genetic disease.
Diseases in this
Bloom syndrome. Babies with this
disease are born small and remain shorter than normal as they grow. Their skin
may look red, and they have more lung and ear infections than children normally
Cystic fibrosis. This disease causes
very thick mucus in the lungs and problems with digesting
Familial dysautonomia (FD). People with this problem
cannot feel pain, they sweat a lot, and they have trouble with speech and
Fanconi anemia. People with this
problem do not have enough blood cells and have problems with the heart,
kidneys, arms, or legs. They also are more likely to get
Gaucher disease. This disease causes a
type of fat called glucocerebroside to build up in certain cells of the liver,
spleen, and bone marrow.
Mucolipidosis IV. This problem causes the nervous system to deteriorate, or break down, over time.
Niemann-Pick disease (type A). This disease causes a type of fat called sphingomyelin
to build up in cells of the liver, spleen, lymph nodes, and bone
Tay-Sachs disease. This disease causes
a type of fat called ganglioside to build up in the cells of the brain and
Torsion dystonia. People with this
problem have ongoing spasms that twist the muscles in their arms, legs, and
sometimes their body. Testing for this condition may not always be done.
About 1 out of 4 people of Ashkenazi Jewish heritage is a carrier of one of these genetic conditions, most commonly of Gaucher disease, cystic fibrosis, Tay-Sachs disease, familial dysautonomia, or Canavan disease.1
Pregnancy: Should I Have Amniocentesis?
Pregnancy: Should I Have Chorionic Villus Sampling?
In this article
This information is produced and provided by the National
Institute (NCI). The information in this topic may have changed since it was written. For the most current information, contact the National
Institute via the Internet web site at http://
.gov or call 1-800-4-CANCER.
WebMD Medical Reference from Healthwise
March 12, 2014
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