Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.

Niemann-Pick disease, type C (NPC) is a highly heterogeneous rare neurovisceral storage disease with early infantile, late infantile, juvenile and adult onset forms, and relentlessly progressive neurodegeneration leading to death. Vertical supranuclear gaze palsy is a hallmark symptom, and ataxia, dysarthria, dysphagia, dystonia, cognitive decline, seizures, cataplexy, hearing loss and visceromegaly are also characteristic. Diagnosis is made by gene sequencing, metabolic measures, or more recently through gene panels and exome sequencing. Management involves multidisciplinary supportive care. Disease-directed treatments are in development, raising hope that with combination therapy, disease progression will be stalled, and NPC will become a treatable disease.