Tuesday, April 20, 2010
Batten disease
Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood.
It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis.
Batten disease is a rare disorder caused by the abnormal build-up of substances called lipopigments in the brain, eyes, and other parts of the body.
Early symptoms of this disorder usually appear between the ages of 5 and 10.
There is som symptoms :
1.Personality changes
2.Behavior changes
3.Slow learning
4.Clumsiness
5.Stumbling
6.Vision loss
7.Seizures
There is no tratments or cures for this disease. However vitamin A,C,D can help who have this disease.
About 2-4 of every 100,000 births are affected.
And there is no special race/ethnic groups what this disease affected.
Batten Disease/NCL is relatively rare, occurring in an estimated 2 to 4 of every 100,000 births in the United States.
Diagnostic tests used for Batten Disease:
1.Skin or tissue sampling.
2.Electroencephalogram or EEG.
3.Electrical studies of the eyes.
4.Brain scans.
5.Enzyme assay.
6.Genetic/DNA testing
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