What is the main genetic inheritance pattern of Niemann-Pick Disease?

Niemann-Pick Disease primarily follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers, possessing only one copy of the mutated gene, typically do not exhibit symptoms but have a 25% chance of having an affected child with each pregnancy.

In the case of Niemann-Pick Disease, this autosomal recessive nature is particularly relevant because it often leads to significant clinical manifestations, particularly type A and type B, which can affect multiple systems in the body. Understanding this inheritance pattern is essential when considering family planning and genetic counseling for affected families, as both parents must be carriers of the mutation for their children to be at risk of the disease.

Other inheritance patterns such as X-linked, autosomal dominant, and mitochondrial do not apply to Niemann-Pick Disease, as this condition does not follow those mechanisms of inheritance.