Ashkenazi Jewish Genetic Panel (AJGP)

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. While 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 a pregnancy through chorionic villus sampling (CVS) or an amniocentesis if the pregnancy is high risk for problems. This can occur if both parents are carriers of genetic diseases.

Ashkenazi Jewish genetic diseases are very serious and most cause death in infancy or early childhood. 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 normal.
• 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). This disease is caused by problems during the development of the nervous system. Babies have feeding problems and are unable to gain weight because of a weak suck reflex. Infections such as pneumonia are common.
• Fanconi anemia. People with this problem do not have enough blood cells and have problems with the heart, kidneys, arms, or legs. Cancer is more likely in people with this disease.
• Gaucher disease. This disease causes a type of fat called glucocerebroside to build up in certain cells in the liver, spleen, and bone marrow.
• Mucolipidosis IV (ML IV). This problem causes the nervous system to break down, or deteriorate, over time.
• Niemann-Pick disease. This disease causes a buildup of fat in the liver, spleen, lymph nodes, and bone marrow. Babies with this disease usually have problems with feeding, vomiting, and swelling of the belly.
• Tay-Sachs disease. This disease causes a build up of fat in 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.

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Author:	Jan Nissl, RN, BS Sydney Youngerman-Cole, RN, BSN, RNC	Last Updated: October 12, 2006
Medical Review:	Renée M. Crichlow, MD - Family Medicine Adam Husney, MD - Family Medicine Siobhan M. Dolan, MD, MPH - Reproductive Genetics Renee H. Martin, PhD - Medical Genetics
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