Tay-Sachs Disease is a condition where children develop normally until about four to six months of age.It is at this time that the central nervous system begins to degenerate.Individuals with Tay-Sachs Disease lack an enzyme called hexosaminidase (Hex A).The child loses all motor skills and becomes blind, deaf and unresponsive.Death usually occurs by the age of four.The carrier rate in the Ashkenazi Jewish population is approximately 1 in 25.More rare than the infantile type is Late Onset Tay-Sachs Disease, where the progression of symptoms is slower and milder.
Canavan Disease is very similar to Tay-Sachs Disease, with normal development until age two to four months, followed by progressive loss of previously attained skills.Most individuals with Canavan Disease die by the age of five.An estimated 1 in 40 Ashkenazi Jews is a carrier for this disease.
Niemann-Pick Disease – Type A is a disease in which a harmful amount of a fatty substance accumulates in different parts of the body.Failure to thrive and a progressive neurodegenerative course lead to death by three years of age.The carrier rate in the Ashkenazi Jewish population is approximately 1 in 90.
Gaucher Disease – Type 1 (pronounced go-shay) is a variable condition, both in age of onset and in progression of symptoms.A painful, enlarged and overactive spleen, with anemia and low white blood cell count are usually the initial features of Gaucher Disease.Bone deterioration is a major cause of discomfort and disability.Approximately 1 in 14 Ashkenazi Jews is a carrier of this condition.Treatment is available.
Familial Dysautonomia (FD) is a disease that causes the autonomic and sensory nervous systems to mal f u n c t i o n.This affects the regulation of body temperature, blood pressure, stress response, normal swallowing and digestion.An estimated 1 in 30 Ashkenazi Jews is a carrier of FD.
Bloom Syndrome is characterized by short stature, sun-sensitive facial skin lesions, an increased susceptibility to infections and a higher incidence of leukemia and certain cancers.The carrier rate is about 1 in 100 in the Ashkenazi Jewish population.
Fanconi anemia – Type C is a disease associated with short stature, bone marrow failure and a predisposition to leukemia and other cancers.Some children may have learning difficulties or mental retardation.Approximately 1 in 89 Ashkenazi Jews is a carrier for this condition.
Mucolipidosis IV (ML IV) is caused by the accumulation of certain harmful substances throughout the body.Individuals with ML IV experience a range of levels of motor and mental retardation, with developmental delays often manifesting themselves as early as the first year of life.Other symptoms can be related to the eyes, such as corneal clouding, pseudostrabismus and retinal degeneration.
Cystic Fibrosis (CF) is a multi-system disorder that causes the body to produce a thick mucus.The mucus accumulates primarily in the lungs and the digestive tract, resulting in chronic lung infections and poor growth.CF does not affect intelligence.The carrier rate for CF among all Caucasian individuals is approximately 1 in 25.The CF carrier test has a detection rate of 97% in the Ashkenazi Jewish population.