Moment's Guide to Jewish Genetic Diseases

Moment, July-August 2012 | Go to article overview

Moment's Guide to Jewish Genetic Diseases

The discovery of DNA and subsequent research has opened c new door of understanding into health, helping to uncover the genetic reasons for many diseases. Moment has put together this guide to help Ashkenazi, Sephardi and Mizrahi Jews learn more about this subject which does not receive enough attention. But these diseases are not limited to Jews. Due to the whims of history, genetic mutations can be found in anyone.



Most but not all diseases caused by genetic mutations among Ashkenazi Jews from Eastern Europe are disabling and fatal. They occur when a fetus inherits two recessive genes, one from each parent. Tests can determine if people carry the genes, and prenatal testing is possible for all the diseases included on the list below. Cystic Fibrosis and Crohn's Disease, while slightly more prevalent among Jewish Caucasian populations than among other Caucasian populations, are not primarily considered "Jewish diseases." Recent research also indicates that Ashkenazi Jews are more likely to have a mutation which increases the chance of developing Parkinson's disease. If both parents are carriers of the same disease there is a one in four chance with each pregnancy of having an affected fetus. This is the autosomal recessive pattern of inheritance where both individuals must carry the same disease.

Bloom Syndrome

Bloom Syndrome hinders normal growth. Children typically reach a maximum of five feet at maturity. Other symptoms include increased respiratory and ear infections, redness of the face, infertility in males and an increased risk of cancer.

Canavan Disease

Apparently normal at birth, babies with Canavan Disease develop an enlarged head, mental retardation, feeding difficulties and seizures. Although many die in the first year of life, some live into their teens.

Familial Dysautonomia

This dysfunction of the autonomic nervous system has been found only in Ashkenazi Jews. Occurring in infancy; symptoms include the inability to produce tears when crying, poor weight gain, indifference to pain, excessive sweating, gastrointestinal problems and incorrect perceptions of heat and taste. Before 1960, approximately 50 percent of patients died before age five, but today that same percentage reaches age 30.

Fanconi Anemia Type C

All five types of Fanconi Anemia, a red and white blood cell and platelet deficiency, are inherited, but Type C is the most common. Although symptoms are highly variable, bleeding and bruises are common. Many children who are diagnosed with Type C do not survive beyond young adulthood.

Gaucher Disease, Type 1

Caused by an enzyme deficiency, Gaucher Disease usually develops in adulthood. In its most common form it causes orthopedic problems and blood abnormalities. Gaucher disease is treatable with enzyme replacement therapy.

Mucolipidosis (ML IV)

Its first symptom is often clouding of the cornea of the eye during early infancy. As it progresses, ML IV cripples the central nervous system. Most afflicted children never walk and some become severely retarded by age three.

Niemann-Pick Disease

Among its five variations, only Type A is more frequent among Ashkenazi Jews. By six months, infants with Type A experience difficulty feeding and recurrent vomiting, and develop enlarged spleens and livers. Children with Niemann-Pick usually die by age three.

Tay-Sachs Disease

This metabolic disorder affects one out of every 2,500 newborns. The most common symptom is the development of a cherry-red spot on the eye, which occurs when a child is four to eight months old. Most children are totally debilitated by age three and die by age five.

Other diseases of connection to Ashkenazi Jews are Familial Hyperinsulinism, Joubert Syndrome Type 2, Lipoamide Dehydrogenase Deficiency (E3), Nemaline Myopathy, Spinal Muscular Atrophy (SMA), Usher Syndrome Type 3, Usher Syndrom Type I, and Walker Warburg Syndrome. …

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