SAIDA - The South African Inherited Disorders Association

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. To visit their site please click on http://www.bdrsa.org or e-mail bdsra1@bdsra.org . The South African representative is Marius van Zyl and he can be contacted at 27-11-976-5294.

Batten's Disease Support Group

Marius van Zyl
46 Roy Cambell Crescent
Sasolburg
9570
Tel: (016) 976-5294
Email: bdsra1@bdsra.org
Website: http://www.bdrsa.org

 

The International Birth Defects Information Systems (I.B.I.S) The International Birth Defects Information Systems (I.B.I.S) is a multi-lingual website dedicated to promote better care, wellbeing and prevention of malformation and developmental disorders through information sharing. IBIS Appeal IBIS Newsletter

Medical Genetic and Counselling Services Genetic counselling is a process whereby patients and their families are assisted in addressing their concerns relating to the development or transmission of a genetic disorder. Medical diagnosis, prognosis, the genetics and recurrence risks of the presenting disorder, together with providing families with options to deal with their risks and manage the disorder in the best possible way, are the primary aims of our genetic counselling service. The multidisciplinary team consists of medical geneticists, medical officers, genetic counsellors and students in training. To find out more about genetic counselling, click here. To find out more about genetic counselling clinics, please contact Mrs Zain Jakoet on the following. Tel: (011) 489-9224 Fax: (011) 489-9224

The Department of Human Genetics, University of the Witwatersrand The department of Human Genetics at the University of the Witwatersrand has published information on the commoner genetic disorders in South Africa. Please click here for more information.

The South African Society for Human Genetics The Southern African Society for Human Genetics (SASHG) is a non-profit organization for health care professionals involved and interested in Human or Medical Genetics. Please click here for more information.