Niemann-Pick

Treatment:

There is no available treatment for Niemann-Pick disease. Present attention is to genetic counseling and prenatal diagnosis to determine that the fetus is normal. New advances in recombinant DNA technology has made it possible to clone the gene responsible for the production of sphingomyelinase, which is the beginning to better understanding of the disease and possible future therapy.

Expectations (prognosis):

Classical Niemann-Pick disease (Type A) is fatal in early childhood, usually before the 3rd year.

Complications:

• damage to the brain with varying degrees of mental retardation and delayed development of physical skills
• blindness
• deafness
• progressive deterioration in conditon (this is a fatal disorder)

Calling your health care provider:

Call for an appointment with your health care provider if you have a family history of this disorder and you plan to have children.

If you have a child that has feeding problems, does not seem to be developing properly, or seems to be not gaining weight properly, have the child examined by the health care provider.