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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.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172