What is Niemann-Pick Disease?
Niemann-Pick disease is a rare inherited disorder that principally affects the central nervous system. It is a rapidly progressive disorder in which brain function deteriorates in early infancy, accompanied by generalised muscle weakness and wasting. Affected infants also develop gross enlargement of the liver and spleen, giving rise to a large protuberant abdomen. There is no cure for this distressing condition. Death invariably occurs within the first two years of life.