A Review of Niemann–Pick Disease Type C

Niemann–Pick disease (NPD) is a rare inherited lysosomal storage disorder characterised by abnormal accumulation of lipids within cells. Type C (NPC) is caused by mutations affecting intracellular lipid trafficking, leading to progressive neurological and systemic manifestations. Common clinical features include developmental delay, ataxia, dysarthria, dysphagia, vertical supranuclear gaze palsy, seizures, and cognitive decline. Diagnosis involves clinical assessment, biochemical testing, genetic testing, and specialized investigations. Management is mainly focused on reducing disease progression, controlling symptoms, and providing multidisciplinary supportive care. Early recognition and appropriate intervention are important to improve quality of life and support affected individuals and their families.

Published in Zenodo (CERN European Organization for Nuclear Research). The abstract is shown as published and remains the work of its authors; read the full article at the source.

doi.org/10.5281/zenodo.23010417