For Types A and B Niemann-Pick, the ASM gene has been isolated and extensively studied. DNA testing and prenatal diagnosis is currently available.

Research into treatments for types A and B has progressed rapidly since the early 1990s. Mount Sinai School of Medicine is conducting research on bone marrow transplantation, enzyme replacement therapy, and gene therapy. All of these therapies have had some success against type B Niemann-Pick in a laboratory environment. Unfortunately, none of the potential therapies has been effective against type A.

No specific treatment is available for type C Niemann-Pick. A healthy, low-cholesterol diet is recommended, although research into low-cholesterol diets and cholesterol-lowering drugs does not indicate that these halt the progress of the disease or change cholesterol metabolism at the cellular level. Additionally, many type C symptoms, such as cataplexy and seizures, can be controlled or tempered by drugs.

The National Niemann-Pick Disease Foundation website has more in-depth reporting on the research into potential treatments.

Although types A and B are both caused by the same enzymatic deficiency, the clinical prognosis for these two groups of patients is very different.

Type A Niemann-Pick is a severe neurologic disease, which generally leads to death by 2 to 3 years of age. In contrast, patients with type B generally have little or no neurologic involvement and may survive into late childhood or adulthood.

The underlying reason for this dramatic difference in the two forms of the disease is not really understood, and, at present, it is not possible to accurately predict the severity of the disease by enzyme testing.

A child showing signs of type C before 1 year of age may not live to school age. Children showing symptoms after entering school may live into their mid to late teens, with few surviving into their 20s.

• 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)

Call for an appointment with your health care provider and genetic counselor if you have a family history of this disorder and you plan to have children. Consider calling your health care provider if your child has feeding problems, does not seem to be developing properly, or is not gaining weight properly.