What are Ashkenazi Jewish Genetic Diseases?
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
life-limiting, some can be treated to reduce symptoms and prolong life. Some of
these diseases can be found during pregnancy through
or
. This testing is done usually if one or
both parents are carriers of a genetic disease.
Diseases in this
group include:
- . 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.
- . This disease gradually destroys brain
tissue.
- . This disease causes
very thick mucus in the lungs and problems with digesting
food.
- (FD). People with this problem
cannot feel pain, they sweat a lot, and they have trouble with speech and
coordination.
- . 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.
- . This disease causes a
type of fat called glucocerebroside to build up in certain cells of the liver,
spleen, and bone marrow.
- . This problem causes the nervous system to break down, or
deteriorate, over time.
- (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.
- . This disease causes
a type of fat called ganglioside to build up in the cells of the brain and
nervous system.
- . 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.
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