Ashkenazi Genetic Diseases

Tay-Sachs Disease

• One of the most deadly diseases inherited by members of the Ashkenazi Jewish population is Tay-Sachs disease. According to the National Institute of Neurological Disorders and Stroke, this disease inhibits the production of an enzyme that degrades gangliosides, causing a buildup of these fatty acids in the brain. Babies born with this disease appear normal at first and then rapidly decline. Symptoms include blindness, deafness and an inability to swallow. The disease is fatal, and death usually occurs by age four.
  
  

Canavan Disease

• Canavan disease follows along the same course as Tay-Sachs disease. The National Institute of Neurological Disorders and Stroke lists the symptoms as deterioration of mental and physical abilities, feeding difficulties and an abnormally large, uncontrolled head. Canavan disease is incurable. Survival past age four is rare.
  
  

Niemann-Pick Disease Type A

• Another disease that kills during the first four years of life is type A Niemann-Pick disease. Typically, type A Niemann-Pick disease patients do not survive past 18 months. This incurable metabolic disorder causes fatty lipids to build up in the liver, spleen, brain and bone marrow. The National Institute of Neurological Disorders and Stroke describes Niemann-Pick disease type A as producing the following symptoms: profound brain damage, enlarged liver and jaundice.
  
  

Gaucher's Disease Type 1

• According to the Jewish Virtual Library, an estimated one in 14 Ashkenazi Jews carry the susceptibility to Gaucher's disease type 1. Enzyme replacement therapy is highly effective at treating this disease. Without treatment, patients can prepare to experience easy bruising and fatigue. Liver and spleen enlargement as well as skeletal disorders are common symptoms of this disease. Age at symptom onset varies.
  
  

Other Common Ashkenazi Diseases

• Other diseases that are more common in the Ashkenazi population than in the general population include familial dysautonomia, Bloom syndrome, Fanconi anemia type C, mucolipidosis IV, glycogen storage disorder type 1a, maple syrup urine disease and cystic fibrosis. According to the Chicago Center for Jewish Genetic Disorders, the list of Jewish genetic diseases is not definitive. Screening for the most common genetic disorders found in this population is available, and genetic counselors help individuals determine the best course of action depending on the results of the genetic screen. It is important to note that children born of two parents who both carry genetic mutations for a specific disease have a 25 percent chance of acquiring the disease.