Niemann-Pick disease type C (NPC1-related) is a lysosomal (digestive system of the cell) storage disorder that prevents the body from properly transporting cholesterol and other fatty substances (lipids) inside of cells.
Symptoms are age dependent and include severe liver disease, cognitive decline such as loss of previously learned speech, dystonia (involuntary movement of muscles), spastic ataxia, seizures, as well as dementia.
This condition is caused by pathogenic (disease-causing) variants in the NPC1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Carriers typically do not experience any symptoms.
Resources:
National Organization for Rare Disorders (NORD)
National Niemann-Pick Disease Foundation
Revised August 2022
