Case Study: Tay-Sachs Disease

Tay-Sachs Disease

Section One- Speaking of disease to a panel of Doctors and Nursing Staff.

Tay-Sachs Disease (TSD) is an inherited condition that is more common to those with a Jewish background.

There has been 12 cases here in Australia to date, four of which were in Sydney and the remainding eight were in Melbourne.

Tay-Sachs Disease is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene which is inherited by both parents.

Those who inherit this desease either lack the enzyme hexosaminidase A (HexA) or make Hex A enzyme molecules that do not work effectively.

Normally this enzyme breaks down the lipid substance GM2 ganglioside into materials needed to make nerve cell membranes, without HexA, GM2 ganglioside accumulates in

Parents will then notice that their baby startles easily in response to any noise whether it happens to be loud or quiet.

The babies appear to be unaware of their surroundings, and has extreamly poor vision at this point and extream muscle weakness with floppy limbs.

Other developmental and behavioral abnormalities will be shown by this point also.

However, by the two year mark, most children that suffer from this horrific disease will begin to suffer from uncontrollable seizures, they will have diminishing mental compacity amd lose any physical skills that they once had, such as sitting, crawling or even walking.

Unfortuently there is yet any cure for Tay-Sachs Disease (TSD) and eventually the child will become blind, paralyzed and nonresponsive and sadly will die before their fifth birthday.

There are carrier screening options avaliable and prenatal diagnosis are effective preventive measure.

Also blood testing and tests on DNA indentification for those who are already carrying these