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Table 3 Summary of Clinical signs and symptoms in NP-C, by age of onset

From: Consensus clinical management guidelines for Niemann-Pick disease type C

Age at onset Systemic manifestations Neurological/psychiatric manifestations
Pre−/peri-natal (<  2 months) Foetal ascites/hydrops Hypotonia
Cholestatic jaundice
Pulmonary disease
Liver failure
Failure to thrive
Early-infantile (2 m to < 2 yrs.) Hepatosplenomegaly or Splenomegaly (isolated or with neurological manifestations) Central hypotonia
Delayed developmental motor milestones, speech delay
Prolonged neonatal jaundice Dysphagia, spasticity
Late-infantile (2 to < 6 yrs.) Hepatosplenomegaly or Splenomegaly (isolated or with neurological manifestations) Developmental delay/regression, speech delay
History of prolonged neonatal cholestatic jaundice Clumsiness, Frequent falls,
Progressive ataxia, dystonia, dysarthria, dysphagia,
Seizures (partial/generalized)
Hearing loss
Juvenile (6 to 15 yrs.) Hepatosplenomegaly or Splenomegaly (isolated or with neurological manifestations; often not present) Poor school performance, learning disability. Loss of language skill
Frequent falls, clumsiness
Progressive ataxia, dysarthria, dystonia, dysmetria, dyskinesia, dysphagia
Gelastic cataplexy
Behavioural problems
Adolescent/adult (> 15 yrs.) Splenomegaly (often not present; isolated in very rare cases) Cognitive decline, dementia, learning disability
Psychiatric signs: Schizophrenia (psychosis), depression.
Clumsiness, progressive motor symptoms, tremor, ataxia, dystonia/dyskinesia, dysarthria, dysphagia