Niemann-Pick type C disease (NPC)
A rare genetic disease
NPC disease is a rare genetic disease inherited in a recessive pattern. This means that both parents carry the altered gene despite not showing any sign of the disease.
This alteration induces the lack of function in a protein necessary to transport cholesterol around the cell. When cholesterol cannot be transported, it builds up inside the cell and causes a general malfunction, leading to the signs of the disease that you can see in your family member.