Gaucher disease is very mild in some people and severe in others. Children or adults may have anemia, large liver and spleen, nosebleeeds, and bones which break easily. Treatment is available, which reverses or reduces the symptoms. Rarely the disease also involves the brain and nervous system, and in this case treatment is not effective. Individuals having carrier testing occasionally find out that they actually have a mild form of the disease.
Intelligence is normal.
Severely affected individuals die in childhood, but some people are only mildly affected. A. A harmful substance builds up in the brain, causing deterioration in both mental and physical abilities and death usually by age 5 years. A less common form of Tay-Sachs disease affects adults rather than children. There is no treatment. Canavan disease is another progressive disorder in which the brain and nervous system degenerate.