Niemann-Pick Disease, What is it?
There are three recognised forms of Niemann-Pick Disease, Niemann-Pick Type A, B and C.
Niemann-Pick Type A and B are caused by an enzyme deficiency, causing a build up of toxic materials in the body’s cells.
Niemann-Pick Type C is not caused by an enzyme deficiency, but the end result is the same; an accumulation of materials (cholesterol and other fatty acids) in the body’s cells.
In Niemann-Pick Type C, the brain and other organs are affected, leading to progressive intellectual decline, loss of motor skills, seizures and dementia. Speech can become slurred and swallowing problems may develop. The rate at which the disease progresses varies greatly between patients; children who develop neurological symptoms in early childhood are thought to have a more aggressive form of the disease, others may remain symptom free for many years.
If you or someone you know has been diagnosed as having, or suspected of having Niemann-Pick disease, it is likely that you are feeling overwhelmed with emotion and greatly confused as to what the disease is and how it has been acquired. The information provided on this website is intended to assist you and your family with understanding what the disease is and, hopefully, this will help in a small way in dealing with the distress that you inevitably feel and must face.