Ashkenazi refers to a certain ethnic group of Jewish people that are of Eastern European descent. These groups of people are predisposed to certain genetic diseases. These diseases can abruptly shorten life-span and wreak havoc on the body. Most Ashkenazi genetic disease have no cure.
Tay-Sachs Disease
Tay-Sachs disease refers to a potentially fatal Ashkenazi genetic disease that affects the nervous system. The National Institutes of Health (NIH) says that specific symptoms of Tay-Sachs disease includes seizures, delayed growth, dementia and deafness. This medical problem also causes blindness, irritability, an increased startle reaction, a loss of motor skills and delayed social skills.
Tay-Sachs disease is due to a lack of hexosaminodase A, a protein that is necessary to break down nerve tissue. This results in an alteration in chromosome 15, a type of gene.
No treatment exists for Tay-Sachs disease. Spasticity (stiffness), seizures and loss of voluntary muscle movement are just a few of the complications of Tay-Sachs disease.
Canavan Disease
The NIH says that Canavan disease is another Ashkenazi genetic condition in which the body cannot break down and utilize the amino acid aspartic acid.
It says that symptoms of Canavan disease include feeding problems, irritability, a strange posture and difficulty swallowing. This disease also causes problems controlling the head, mental retardation, vomiting and reflux.
Canavan disease is due to a lack of the enzyme aspartoacylase. This results in an accumulation of the substance N-acetylaspartic acid in the brain.
No specific treatment for Canavan disease exists. A few complications of this disease include blindness and trouble walking.
Gaucher's Disease
Gaucher's disease refers to a potentially life-threatening Ashkenazi genetic disease in which fatty substances build up in the lungs, liver, spleen, bone marrow and brain.
The Mayo Clinic says that type 1 and type 2 forms of Gaucher's disease exist. Type 1 is the most common form and typically affects people who are in their 30s. Symptoms include extreme fatigue, an enlarged spleen or liver, delayed puberty and yellow spots in the eyes. Bone pain and bone fractures also characterize Gaucher's disease.
Type 2 symptoms include seizures, rigidity, dementia or mental retardation.
A lack of the enzyme glucocerebrosidase is to blame for the accumulation of fatty substances in the brain.
The Mayo Clinic says that enzyme replacement therapy, bone marrow transplantation and taking such medications as miglustat can be used to manage Gaucher's disease. Sometimes, affected individuals can live a full life. In some cases, some individuals may not live over 2 years of age.
