This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages without signing in

Clinical features

Authoring team

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

The only treatment currently approved by the U FDA specifically to treat Batten disease is cerliponase alfa, an enzyme replacement therapy designed to slow the loss of walking ability in children with a late-infantile NCL, CLN2. (2) Most individuals with Batten disease die between the ages of 15 and 30 and most become bilaterally blind by the age of 10 to 14. (3)

Reference

  1. Collins J, Holder GE, Herbert H, Adams GG. Batten disease: features to facilitate early diagnosis. Br J Ophthalmol. 2006 Sep;90(9):1119-24.
  2. Markham A. Cerliponase Alfa: First Global Approval. Drugs. 2017 Jul;77(11):1247-1249
  3. Ostergaard JR. Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights. Degener Neurol Neuromuscul Dis. 2016;6:73-83.

Related pages

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.