A squint develops with fisting of the hands. There is retroflexion of the neck and early loss of skills. Death occurs in the first 1-2 years and there is enlargement of the liver and spleen. The management of Type 2 is supportive only. I do not think enzyme replacement therapy or any other specific treatment should be given.
Onset begins in children and young adults.
They also suffer developmental regression. They suffer from abnormal eye movements but no other neurological involvement. However there is intrafamilial variation, with some members in the same family having Type 1 disease with no neurological symptoms. Neurological symptoms for this form of Type 3 are ataxia and spasticity, gaze palsy and seizures with EEG abnormalities. The condition deteriorates after splenectomy.