Niemann-Pick disease type C

Overview

Niemann-Pick disease type C is a rare autosomal recessive lipid trafficking disorder caused mainly by pathogenic variants in NPC1 or NPC2. It presents with progressive neurologic disease, vertical supranuclear gaze palsy, ataxia, dysarthria, cataplexy, and hepatosplenomegaly, with onset ranging from infancy to adulthood. Prevalence is very low worldwide, and miglustat is used in some regions as a disease-modifying treatment option.

Available Treatments (0)

Classification & Codes