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Table 2 Sign and symptom combinations strongly suggestive of NP-C

From: Niemann-Pick disease type C symptomatology: an expert-based clinical description

Splenomegaly + Vertical supranuclear gaze palsy
Hypotonia
Schizophrenia-like psychosis
Gelastic cataplexia
Delayed developmental milestones
Ataxia + Dystonia
Dysarthria/dysphagia
Cognitive decline
Psychotic symptoms + Cognitive decline
  1. The combination of one of the symptoms on the left with at least one of those on the right is strongly suggestive of NP-C.
  2. Abbreviation: NP-C, Niemann-Pick disease type C.