> Ashkenazi Jewish Diseases

Ashkenazi Jewish diseases are a group of genetic conditions that typically occur more frequently in people of central and eastern European (Ashkenazi) Jewish ancestry than in the general population.

Your ethnic background and family’s health history are major factors in determining the likelihood of having a child or grandchild with these diseases. By using AccessDNA's family history tool, you will be taking an essential step towards learning your risk to pass down these diseases. Click below to use the tool or scroll down to read more about the Ashkenazi Jewish Diseases.

• Alternative Names
• Ashkenazi Jewish Diseases Symptoms Characteristics & Treatment
• Ashkenazi Jewish Diseases Statistics
• Ashkenazi Jewish Diseases Causes & Risk Factors
• Ashkenazi Jewish Diseases Inheritance & Family History
• Ashkenazi Jewish Diseases Tests & Diagnosis
• Ashkenazi Jewish Diseases Prevention & Related Issues
• Ashkenazi Jewish Diseases Support & More Information

Alternative Names

Ashkenazi Jewish Conditions; Ashkenazi Jewish Disorders

What are Ashkenazi Jewish Diseases? Ashkenazi Jewish Diseases Symptoms, Characteristics & Treatment

Around the world different ethnic groups have been identified as having increased risks for particular genetic conditions. Ashkenazi Jewish diseases are a group of genetic conditions that typically occur more frequently in people of central and eastern European (Ashkenazi) Jewish ancestry than in the general population. These diseases do not just affect people of Ashkenazi Jewish ancestry, but are simply more common in this group of people.

Clinical genetic testing for these conditions is often grouped into a panel called the Ashkenazi Jewish Panel. It is important to note that there is no official list of Ashkenazi Jewish diseases, and as such, not every provider offers testing for the same number of conditions. However, there are some professional recommendations that may be useful when making a decision about genetic testing.

The American College of Obstetricians and Gynecologists (ACOG) and American College of Medical Genetics (ACMG) both recommend that all couples in which one or both partners is of Ashkenazi Jewish descent and who are pregnant or planning a pregnancy are offered testing for the following four conditions:

Tay-Sachs disease is caused by the harmful buildup of a certain substance in the brain causing deterioration in both mental and physical abilities. Affected people usually die by 5 years old. There is also a rare form called late-onset Tay-Sachs disease in which symptoms are milder and do not appear until adulthood. There is currently no cure or effective treatment for Tay-Sachs disease.

Canavan disease causes progressive central nervous system degeneration. Affected people usually die by 5 years old. There is currently no cure or effective treatment for Canavan disease.

Cystic fibrosis (CF) is a chronic condition that primarily affects the respiratory, digestive and reproductive systems. CF is more common in all Caucasians of European descent. CF does not affect intelligence. There is currently no cure for CF. The average lifespan is 32 years old, but is expected to improve as better treatments are developed.

Familial dysautonomia causes vomiting, excessive sweating, decreased sensitivity to pain, and unstable blood pressure or body temperature. Affected people usually have normal intelligence, but may have learning problems. About 50% of affected people die by 30 years old. There is currently no cure for FD, but symptom management may improve quality of life.

In addition to these four conditions, the American College of Medical Genetics (ACMG) recommends the following five conditions also be offered:

Bloom Syndrome causes short stature, sun-sensitive skin problems, an increased susceptibility to infection and a predisposition to develop cancer. Affected people often die from cancer by 30 years old. There is currently no cure for Bloom syndrome.

Fanconi anemia type C causes short stature, anemia, and a predisposition develop cancer. Some affected people have learning problems or mental retardation. Abnormalities of the heart, kidneys or limbs may also be present. There is currently no cure for Fanconi anemia.

Mucolipidosis type IV is caused by the harmful buildup of certain harmful substances throughout the body causing mental and physical retardation as well as vision problems. There is currently no cure for ML IV.

Niemann-Pick disease type A is caused by the harmful buildup of a fatty substance in various parts of the body causing growth problems, enlarged liver, as well as mental and physical deterioration. Affected people usually die by 4 years old. There is currently no cure or effective treatment for Niemann-Pick disease (type A).

Gaucher disease type 1 affects various parts of the body, but the brain and spinal cord are typically not affected. The signs and symptoms of this condition vary widely among affected individuals, but may include enlargement of the liver and spleen, anemia, decrease in blood platelets, lung disease, and bone abnormalities. Treatment is available and may help manage symptoms and prevent related problems.

In addition to the above conditions, the following conditions are commonly offered by genetic professionals and physicians:

Maple syrup urine disease (MSUD) is caused by the harmful build up of certain amnio acids in blood causing the characteristic maple syrup smell in the urine (and ear wax). If left untreated, MSUD leads to mental retardation, physical disabilities, seizures and death. Long-term, strict management of diet to avoid amino acid buildup can be effective.

Glycogen storage disease type 1A causes severely low blood sugar, growth problems and liver problems. There is currently no cure of GSD type 1A. Long-term, strict management of diet and tube feedings of glucose can be effective.

Usher syndrome, types 1F and 3 is characterized by hearing loss as well as retinitis pigmentosa (RP), a progressive disease of specific cells of the retina that results in blindness. Treatment for hearing loss includes cochlear implantation.

Dihydrolipoamide dehydrogenase deficiency causes progressive neurological degeneration, liver problems, as well as mental retardation and development delays. Treatment may provide some improvement.

Familial hyperinsulinism is characterized by inappropriately high insulin levels in the presence of low levels of blood glucose. This may cause seizures, low muscle tone, as well as feeding and breathing problems. Symptoms may begin in infancy or during childhood. Treatment may includes glucose infusions and medications to reduce insulin release.

Just recently, some providers have begun offering expanded panels. Some of these genetic conditions are not more common in the Ashkenazi Jewish population than in other ethnic populations, but the specific mutations in the Ashkenazi Jewish population are known and therefore, testing can be made available. The severity and incidence of these conditions vary greatly. There are no recommendations or guidelines regarding these tests in people with no family history or medical indication to have these tests. Some of the conditions included in these expanded panels include:

Abetalipoproteinemia affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye. There is no cure for abetalipoproteinemia.

Non-classical congenital adrenal hyperplasia (CAH) causes excess adrenal androgen production, which can be controlled by treatment with corticosteroids. Early diagnosis and prompt treatment may prevent related problems.

Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Treatment is symptom specific. Lifespan appears to be shortened.

Factor XI deficiency (Hemophilia C) is a mild bleeding disorder. Treatment is usually unnecessary except when undergoing surgery.

Familial hypercholesterolemia (FH) is characterized by very high levels of cholesterol in the blood. Too much cholesterol increases a person's risk of developing heart disease and other health problems related to the buildup of excess cholesterol in other tissues. Early detection and management of cholesterol levels may help to prevent or slow the progression of heart disease.

Familial mediterranean fever is characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints as well as fever and rash. If left untreated, kidney failure can occur in some cases. Treatment may help reduce the number of attacks and other complications.

Glycogen storage disease 7 is a relatively mild disorder characterized by exercise-induced cramps and intolerance and myoglobin in the urine. Affected individuals have a normal lifespan. The avoidance of exercise can help manage symptoms.

Hermansky-Pudlak syndrome causes albinism, bleeding problems and lung disease. Treatment depends on the symptoms with focus in preventing secondary complications.

Torsion dystonia is a condition that affects muscle control. Symptoms typically begin in one part of the body (an arm or leg) and progressively spread to the rest of the body. Treatment may help manage some symptoms.

Nemaline myopathy causes varying degrees of muscle weakness. Breathing and feeding problems often occur. The goal of treatment is to improve quality of life and prolong life.

Non-syndromic hereditary deafness due to Connexin 26 mutations causes congenital moderate to severe hearing impairment. Treatment includes hearing aids and cochlear implantation.

How Common Are Ashkenazi Jewish Diseases? Ashkenazi Jewish Diseases Statistics

Ashkenazi Jewish Diseases Causes & Risk Factors

Ashkenazi Jewish diseases are inherited. People of Ashkenazi Jewish ancestry may be at greater risk to have children with these disorders.

Ashkenazi Jewish Diseases Inheritance & Family History

We all have two copies of most genes, one from each parent.

In most of the Ashkenazi Jewish diseases, it is necessary to have two mutations, one in each copy, to be affected with the disorder. This is called autosomal recessive inheritance. Both parents of an affected person are always obligate carriers (they each have only one mutation). Two carriers have a 25% chance with each pregnancy to have an affected child, but typically do not have symptoms themselves.

In torsion dystonia, having one mutation in a single gene copy is sufficient to cause the disease. However, not every person who has a mutation will develop physical symptoms in their lifetime. This is called autosomal dominant inheritance with incomplete penetrance. Every person with a mutation has a 50% chance to pass on their mutation to each child they have.

In familial hypercholesterolemia, having one mutation in a single gene copy is sufficient to cause the disease. This is called autosomal dominant inheritance. In this condition, people with two mutations, one from each parent, may have more severe symptoms.

Factor XI deficiency has been characterized as both an autosomal dominant and autosomal recessive condition. People with one mutation or two mutations may have clinical manifestations of the disorder.

Ashkenazi Jewish Diseases Tests & Diagnosis

Clinical genetic testing for Ashkenazi Jewish diseases is available online (over the internet) or through an in person genetic consultation. Testing for these conditions may be available separately or as part of an Ashkenazi Jewish Panel.

Not every provider offers testing for the same number of conditions in their Ashkenazi Jewish panel. In addition, testing technique may vary causing a difference in test ability to detect a mutation (called detection rate). As such, it is always important to review, fully understand, as well as confirm the number of conditions tested for and their detection rates when ordering an Ashkenazi Jewish Panel.

Of note, these tests look for well documented mutations in people of Ashkenazi Jewish ancestry. As such, this testing may not be informative for people of non-Ashkenazi Jewish ancestry and more extensive or alternative testing may be warranted.

A trained genetic professional can discuss the benefits and limitations of genetic testing for any of the Ashkenazi Jewish diseases, coordinate testing and interpret results in the context of personal and family medical history.

• A board-certified genetic counselor is available by telephone.

• A medical geneticist can also be found at the American College of Medical Genetics website.

• A genetic counselor can also be found at the National Society of Genetic Counselors website.

Ashkenazi Jewish Diseases Prevention & Related Issues

A trained genetic professional can discuss the benefits and limitations of prenatal genetic testing and preconception testing for the Ashkenazi Jewish Diseases.

Ashkenazi Jewish Diseases Support & More Information

More information can be found at:

• Mount Sinai Medical Center - Center for Jewish Genetic Diseases