diagnosis
Last reviewed 01/2018
The diagnosis of this condition can be made by measuring serum hexosaminidase activity.
Prenatal diagnosis is possible, but because about 80% of cases mark the first appearance of the condition in families, it is much more valuable to identify at-risk couples before they have children.
The high frequency of heterozygotes in the Ashkenazi Jewish populations has been a stimulus to successful voluntary detection programmes.
Note that Niemann-Pick disease may also present with a cherry red spot on the macula in the retina.