Masten et al reported a clinical staging system for a patient with juvenile ceroid lipofuscinosis (Batten disease). This can help to describe the disease progression over time and response to therapy. The authors are from the University of Rochester.
Juvenile Ceroid Lipofuscinosis is a form of neuronal ceroid lipofuscinosis (NCL) with onset during childhood and slow progression over 20 or more years prior to death.
The most common presenting finding is vision loss.
Other findings may include:
(1) change in cognition
(2) behavioral changes
(3) seizures
(4) progressive motor deterioration
(5) cardiac arrhythmias
(6) feeding difficulties
Status
Stage
asymptomatic with genetic confirmation
0
vision loss
1
seizures
2
unable to walk without assistance
3
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