Batten Disease was first described in 1826, more than 170 years ago, by a British pediatrician. Batten Disease is the common name for a group of diseases known as neuronal ceroid lipofuscinosis, and is one of the more common of the neurodegenerative diseases. It is also one of the diseases found in a group known as lysosomal storage disorders. At this time there is neither treatment nor cure.
There are five major forms of Batten disease, defined by age of onset, pathology and gene identification. See chart
Batten Disease is rarely diagnosed immediately and is often mistaken for
epilepsy, mental retardation, retinitis pigmentosa, even schizophrenia in adults.
An ophthalmologist can observe pathological changes in the retina. One
of the first diagnostic clues. Onset is characterized by beginning vision loss,
seizures, clumsiness, personality and behavior changes. Batten
Disease causes continuing physical and mental deterioration leading to death.
It is a recessive inherited disease meaning both parents must carry the same
gene. A child must inherit a copy of the bad gene from both parents in order
to be affected. A child that inherits a bad copy from just one parent will be
a carrier
Carrier and prenatal testing is available for the Infantile, "Classic" Late Infantile and Juvenile forms of Batten Disease.
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