Niemann-Pick disease type C
A rare lysosomal lipid storage disease characterized by variable clinical signs depending on the age of onset such as prolonged unexplained neonatal jaundice or cholestasis isolated unexplained splenomegaly and progressive often severe neurological symptoms such as cognitive decline cerebellar ataxia vertical supranuclear gaze palsy (VSPG) dysarthria dysphagia dystonia seizures gelastic cataplexy and psychiatric disorders.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Niemann-Pick disease type C?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Clinical Trials
For a list of clinical trials in this disease area, please click here.