Batten disease is an autosomal recessive neurodegenerative lysosomal storage disorder, specifically one of the neuronal ceroid-lipofuscinoses (NCLs). The neuronal ceroid-lipofuscinoses are a genetically heterogenous group of disorders characterized by progressive cognitive and motor deterioration, seizures, and early death.
Batten disease is one of the most common of the NCLs with the classic juvenile onset of symptoms between ages 4 and 8 years. Vision impairment is typically the first symptom and progresses rapidly to severe vision loss. Onset of seizures between ages 9 and 18 is consistent among patients. However, the progression of cognitive and motor deterioration is variable with psychiatric symptoms, behavior problems, and sleep disturbances developing later. Individuals with Batten disease do not usually live past their early 20s.