clinical features

FREE subscriptions for doctors and students... click here
You have 3 more open access pages.

Clinical features include:

  • normal development for the first two years of life, which then begins to slow and progress to dementia
  • retinitis pigmentosa, visual loss and eventually blindness
  • fits - myoclonic jerking
  • ataxia
  • spastic weakness
  • athetosis

Ultimately there is death in late childhood.

Last reviewed 03/2020

Links: