About
|
Tay Sachs is a neurodegenerative disease that is caused by a mutation in the gene HEXA, whose function is to break down gangliosides in the lysosomes of neurons. [1] This autosomal recessive disease results in the failure of the HEXA gene to break down the GM2-gangliosides, which leads to a toxic buildup in neurons, leading to a gradual decrease in motor functions. There are three forms of the disease: infantile, juvenile, and adult onset.
|
Symptoms
Diagnosis
Doctors use a checklist of symptoms to diagnose Tay Sachs. One of the defining features of Tay Sachs disease is the presence of a red dot in the macula of the eye [3]. A blood test can be performed on parents of a child that may have Tay Sachs to determine if they are carriers of the autosomal recessive disease.
|
Treatment
There currently is no cure for Tay Sachs disease. Medications can be given to help with seizures and many patients will be given physical therapy for muscle weakness. Infants with Tay Sachs are very prone to lung infections [4]. This is often the cause of death in infants with this disease. The life expectancy for the infantile form of Tay Sachs is around four years of age. There is hope that a more effective treatment or cure can be found using gene or enzyme therapy.
|
|
|
This web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison.
References
[1] Tay-Sachs disease. (n.d). Retrieved from rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease
[2] Tay-Sachs disease. (2018, May 16). Retrieved from https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/diagnosis-treatment/drc-20378193
[3] Tay-Sachs Disease. (2020, December 18). Retrieved from https://my.clevelandclinic.org/health/diseases/14348-tay-sachs-disease
[4] Lew, R. (2015, January 21). Tay-Sachs disease: current perspectives from Australia. (Volume 2015:8 Pages 19-25). Retrieved from https://www.dovepress.com/tay-sachs-disease-current-perspectives-from-australia-peer-reviewed-fulltext-article-TACG
[2] Tay-Sachs disease. (2018, May 16). Retrieved from https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/diagnosis-treatment/drc-20378193
[3] Tay-Sachs Disease. (2020, December 18). Retrieved from https://my.clevelandclinic.org/health/diseases/14348-tay-sachs-disease
[4] Lew, R. (2015, January 21). Tay-Sachs disease: current perspectives from Australia. (Volume 2015:8 Pages 19-25). Retrieved from https://www.dovepress.com/tay-sachs-disease-current-perspectives-from-australia-peer-reviewed-fulltext-article-TACG
|