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 group include:
- 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 have.
- Canavan disease. This disease gradually destroys brain tissue.
- Cystic fibrosis. This disease causes very thick mucus in the lungs and problems with digesting food.
- Familial dysautonomia (FD). People with this problem cannot feel pain, they sweat a lot, and they have trouble with speech and coordination.
- 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 cancer.
- 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 marrow.
- Tay-Sachs disease. This disease causes a type of fat called ganglioside to build up in the cells of the brain and nervous system.
- 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