Type 2 disease

Type 2 disease also demonstrates a spectrum of phenotypes. This acute neuronopathic type is the most severe form of the disease and includes a range of symptoms and signs associated with type 1 disease and a number of additional neurological manifestations that usually result in early death. Features of type 2 disease include: Gupta N, Oppenheim I, Kauvar E, Tayebi N, Sidransky E. Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. Blood Cells Mol Dis 2011;46(1):75-84.

  • Supranuclear gaze palsy
  • Opisthotonus
  • Hydrops fetalis
  • Ichthyosis-like cutaneous disorder
  • Ocular complications including strabismus
  • Trismus