Niemann-Pick disease type C1

Introduction

Subacute or juvenile form (type C).

also see Niemann-Pick disease type C

Epidemiology

• 95% of Niemann-Pick disease type C
• may appear early in life or be delayed into the teen years

Pathology

• cholesterol accumulation in lysosomes
• sphingomyelinase deficiency not demonstrated

Genetics

• associated with defects in NPC1

Clinical manifestations

• hepatosplenomegaly (moderate)
• brain damage may be extensive
• inability to look up & down
• ataxia
• athetosis
• dysphagia
• loss of vision
• hearing loss
• dystonia

Laboratory

• NPC1 gene mutation

Management

• low-cholesterol diet often recommended, but benefit limited
• prognosis is variable; some patients live into adulthood

More general terms

• Niemann-Pick disease type C

Additional terms

• Niemann-Pick C1 protein (NPC1)

Database

• OMIM: https://mirror.omim.org/entry/257220