How Do You Get Niemann Pick Disease

Inherited Rare Genetic Disease

All types of NPD are inherited in an autosomal recessive pattern and can affect both males and females.

A person with NPD inherits one gene mutation from each parent, both of whom are carriers.

Each child of two carrier parents has a:

  • 25% chance of being unaffected and not a carrier (having two working copies of the gene)
  • 50% chance of being an NPD carrier (having one functional copy and one non-functional copy, like his / her parents)
  • 25% chance of having NPD (having no working copies of the gene)

Blood relatives (siblings, aunts/uncles, cousins, etc) of patients with NPD may also be carriers of an NPD gene mutation. If the mutations in the affected family member are known, definitive carrier testing can be done for these relatives.

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