|Physical Address:||46 Roy Cambell Crescent, Sasolburg, Gauteng|
|Postal Address:||46 Roy Cambell Crescent, Sasolburg, 9570, South Africa|
|Phone:||+27 (0)16 976 5294|
|Contact Person:||Marius van Zyl|
Batten disease is an inherited condition affecting the brain, usually characterized by fits (convulsions), blindness, and deteriorating mental and physical development. It is recessively inherited, which means that a person must get two abnormal genes (one from each parent) in order to develop Batten Disease. An individual that inherits only one abnormal gene from either one of his/her parents will not develop the disease but is a carrier (like the unaffected parent). If two carriers have children together, with every pregnancy there is a 25% (or 1 in 4) chance that their baby will develop Batten Disease.
Batten Disease may affect a person of any age, but primarily strikes infants, toddlers and school-age children. There are four major forms of Batten Disease, defined by age of onset and severity of symptoms: Infantile, Late Infantile, Juvenile and Adult. The gene defect in the infantile type has been localized to chromosome 1p32 and the enzyme palmitoyl protein thioesterase is abnormal. The gene involved in the juvenile form has been localized to chromosome 16p12.1. The genes responsible for the other two types have not been localized yet.
The Batten Disease Support and Research Association (BDSRA) was created in 1986 by the parents of three affected children. It is an international, non-profit organization created to provide information and support, as well as to further research to fight and eventually eliminate Batten Disease. It has branches in Canada, the United States and Australia.
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