Batten Disease

Batten disease is a rare and lethal receding neurodegenerative disorder that begins in childhood. Batten disease is the common term for a group of lysosomal storage disorders known as Neuronal Ceroid Lipofuscinoses (NCLs) – each caused by a specific gene mutation, of which there are thirteen. Since Batten disease is quite rare, its worldwide prevalence is about 1 in every 100,000 live births. It typically manifest between the ages group of 4 to 7 year. Batten disease is characterized by motor impairment, epilepsy, dementia, vision loss, and shortened lifespan. A loss of vision is the first sign of Batten disease.

Batten disease diagnosis depends on a conflation of many criteria: clinical signs and symptoms, evaluations of the eye, electroencephalograms (EEG), and brain magnetic resonance imaging (MRI) results.

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