Tay Sachs Disease Essay

Tay-Sachs Disease

Tay-Sachs disease (TSD), an inherited neurodegenerative disease, was named for Warren Tay and Bernard Sachs who were two independently working doctors. In 1881, Dr. Tay, an ophthalmologist, discovered a red spot in the back of the eye on the macula, which is used as a clear sign for diagnosing children that are affected by the disease. Several years later, Dr. Sachs noted the actual cellular changes of the disease. Also, he observed that the disease was much more common in babies of Easter- European Jewish descent.
Figure 1: An example of a “cherry spot” in the back of the macula, which Dr. Tay identified as a sign of Tay-Sachs disease. TSD is an inherited recessive autosomal gene. The gene that causes TSD is found…show more content…
Symptoms usually begin between late childhood and the mid-30s, although in some cases they can begin in childhood. Affected individuals usually do not lose vision or hearing, which are some of the more debilitating symptoms associated with Tay-Sachs disease. Some individuals may have loss of certain mental abilities, including problems with memory and comprehension. Symptoms vary in severity but typical symptoms that are different from classic TSD include: slurred speech, muscle weakness, muscle cramps, tremors, unsteady gait and sometimes mental illness. Although symptoms negatively impact overall quality of life, LOTS has shown in some cases to not impact longevity of life, which is very different from the other two types of TSD that are undoubtedly…show more content…
N.p., n.d. Web. 03 Jan. 2014.
Board, A.D.A.M. Editorial. Tay-Sachs Disease. U.S. National Library of Medicine, 11 Feb. 2012. Web. 02 Jan. 2014.
" Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 04 Jan. 2014.
"Tay-Sachs Disease." Genetics Home Reference. N.p., n.d. Web. 02 Jan. 2014.
"Tay-sachs Disease." National Tay-Sachs & Allied Diseases Association of Delaware Valley (NTSAD-DV). N.p., n.d. Web. 03 Jan. 2014.
"NINDS Tay-Sachs Disease Information Page." Tay-Sachs Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS). N.p., n.d. Web. 02 Jan.