Niemann-Pick Type A Disease
Niemann-Pick Type A disease is a severe neurodegenerative condition which cannot be treated. Symptoms appear by about 6 months of age and include loss of brain function and enlargement of the liver and spleen. Death usually occurs by 2 to 3 years of age due to infections such as pneumonia.
The carrier frequency of Niemann-Pick disease in the Ashkenazi Jewish population is approximately 1 in 90. Carrier screening allows a detection rate of about 95%.
More information on Niemann-Pick Type A disease from the Mount Sinai School of Medicine