Tay-Sachs Disease

Madeleine Haydek, Period 7

Discovery

It was first discovered by Warren Tay, and ophthalmologist, in 1881 who saw a red spot on the retina of a child who was behind mentally and physically. Then in 1886, Bernard Sachs, a neurologist, saw swelling of the neurons of a child with undiagnosed Tay-Sachs. Sachs also noticed that most of the children affected were of Jewish descent. The connection between the two was made in the 1930s, but doctors never knew what caused it.

What causes Tay-Sachs?

Tay-Sachs is caused by a HEx A mutation due to a genetic mutation of chromosome 15 that doesn't allow the ganglioside in the body to be broken down due to the missing Hex A in the lysosomes. This excess protein builds up in the brain and causes cell damage. It is diagnosed through blood tests either during pregnancy or after birth if the child presents symptoms. It is transmitted genetically only if both parents have the mutated gene.

Signs/Syptoms

Symptoms of Tay-Sachs Disease include blindness, deafness, paralysis, low muscle tone (weakness), slow mental and physical development, and seizures.

Signs of the disease include a red spot on the retina of the eye, mental retardation, as well as the symptoms listed above.

Treatment

There is no cure or treatment for Tay-Sachs except to keep the patient happy and comfortable, whether that be with medication and medical assistance or to just let the patient be as they are.
Nathan's Story; Tay-Sachs Disease in the Irish Population

*Interesting Fact*

There are 3 types of Tay-Sachs Disease, early onset, late onset, and adolescent onset.

Early: most common, children present before 6 months and die before age 6

Adolescent Onset: children present in their early teens/ onset of puberty and die before age 16

Late Onset: present in the late teens/ early twenties and patients die before the age of 30

Bibliography

Gravel, R., Davidson, T., Gulli, L., "Tay-Sachs disease." The Columbia Encyclopedia, 6th ed.. 2015, "Tay-Sachs Disease." UXL Complete Health Resource. 2001, "Tay-Sachs Disease." Complete Human Diseases;Conditions. 2008, & "Tay-Sachs disease." A Dictionary of Nursing. 2008. (2003). Tay-Sachs Disease. Retrieved December 16, 2015, from http://www.encyclopedia.com/topic/Tay-Sachs_disease.aspx


NTSAD - History. (n.d.). Retrieved December 16, 2015, from http://www.ntsad.org/index.php/tay-sachs/history


Tay-Sachs Disease. (n.d.). Retrieved December 16, 2015, from http://www.healthline.com/health/tay-sachs-disease