Magazine article Moment

JewishHealth: Your Guide to Intelligent Living

Magazine article Moment

JewishHealth: Your Guide to Intelligent Living

Article excerpt

[ILLUSTRATION OMITTED]

With this issue, Moment launches Jewishhealth: Your Guide to Intelligent Living. Use this guide to stay informed about a wide spectrum of issues that may affect you and your family. In this first edition, we focus on rare genetic diseases that occur more often in Jews of Ashkenazi and Sephardic descent than in the general population.

AshkenAzi Genetic DiseAses

Most but not all diseases caused by genetic mutations among primarily Ashkenazi Jews from Eastern Europe are disabling and terminal. 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 in what is known as the GBA gene, which increases the chance of developing Parkinson's 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. …

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