ASHKENAZI JEWISH DISEASE

LEARNING ABOUR YOUR HERITAGE IS A BEGINNING

Around the world distinct ethnic groups are known to have an increased risk for particular genetic disease. In the Ashkenazi Jewish (Eastern European) population, several inherited diseases are known.

It is considered standard of care for doctors to offer carrier testing for cystic fibrosis, Tay-Sachs disease, Canavan disease and familial dysautonomia to individuals of Ashkenazi Jewish descent.

There are a number of other disorders that occur more often in the Ashkenazi Jewish population for which carrier testing is also available. Interested couples can have a blood test to learn about there chances of having a child affected with one of these conditions.

What are the diseases?

CYSTIC FIBROSIS
Cystic Fibrosis is a chronic disorder that primarily involves the respiratory, digestive and reproductive systems. Symptoms include pneumonia, diarrhea, poor growth and infertility. Some people are only mildly affected, but individuals with severe disease may die in childhood. The average life span today is 32 years, but may improve as scientists search for better treatment. Cystic fibrosis does not affect intelligence.

TAY-SACHS DISEASE
Tay-Sachs Disease is caused by an enzyme deficiency that allows a harmful substance to build up in the brain, causing deterioration in both mental and physical abilities. Individuals with Tay-Sachs usually die by age 5. A less common form of Tay-Sachs disease affect adults rather than children. At this time there is no treatment.

CANAVAN DISEASE
Canavan Disease is a disorder which causes brain and nervous system degeneration. Individuals with canavan disease usually die in early childhood at this time there is no treatment.

FAMILIAL DYSAUTONOMIAL
Familial Dysautonomia is a nervous system disorder that causes vomiting, sweating, decreased pain sensitivity and unstable blood pressure or temperature. Individuals often have normal intelligence, but may have learning disabilities. Symptom management improves quality of life, but only 50% of affected individuals will reach 30.

BLOOM SYNDROME
Bloom Syndrome causes poor growth; poor immune systems function and high rate of cancer. Individuals with Bloom syndrome usually die from cancer before age 30. Bloom
syndrome does not affect intelligence.

FANCONI ANEMIA GROUP C
Fanconi Anemia Group C is a disease that causes anemia, short stature and, often times, abnormalities of the heart, kidneys or limbs. Some individuals have learning disabilities or mental retardation. Patients have a high rate of cancer especially leukemia.

GAUCHER DISEASE
Gaucher Disease is caused by an enzyme deficiency. Symptoms are variable and may include fatigue, enlarged liver and spleen, easy bruising and bleeding, bone pain and fractures. The most common form of Gaucher disease is treatable by enzyme replacement therapy. In the most severe form, which occurs much less frequently, the brain and nervous system are involved.

GLYCOGEN STORAGE DISEASE TYPE 1a
Glycogen Storage Disease Type 1a is a disorder which causes severe low blood sugar, enlarged liver delayed growth and bleeding. Treatment consists of a strict diet and continuous tube feedings of glucose.

MAPLE SYRUP URINE DISEASE
Maple Syrup Urine Disease (MSUD) is a disorder which causes certain amino acids to accumulate in the blood. The disease name refers to the characteristic odor of the urine. Without diagnosis and treatment, classic MSUD leads to mental retardation, physical disabilities and seizures and death. Treatment consists of strict life long special diet to attempt to control the accumulation of amino acids on the blood.

MUCOLIPIDOSIS TYPE IV
Mucolipidosis Type IV affects the brain and nervous system. Symptoms begin in the first year of life, resulting in mental and physical retardation, and impaired vision. At this time there is no treatment.

NIEMANN-PICK DISEASE TYPE A
Niemann-Pick Disease Type A cause poor growth, enlarged liver, and mental and physical deterioration. Individuals with Niemann- pick disease type A die by age 4. At this time there is no treatment.