Thursday, November 17, 2011

Genetic disorder 1 (Alpers Syndrome)

~Alpers' disease, also called Alpers' syndrome, 1 progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs mostly in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings. Alpers' disease is caused by certain genetic mutations in the POLG gene.\


~While some researchers believe that Alpers' disease is caused by an underlying metabolic defect, no consistent defect has been identified.


~Alpers' disease affects the family of the patient because the life expectancy is about 15.


~Alpers' disease affects the following. Optic atrophy, Blindness, Liver failure, Cardiorespiratory failure and Chronic brain failure.


~The goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Most important is to strictly control blood pressure.


~It cannot be prevented.


~Life expectancy is not more than 14.

1 comment:

Anonymous said...

How do you know if you have Alpers' syndrome? Cab it affect the elderly?