Tay-Sachs disease is a rare, hereditary illness that causes progressive damage to certain nerve cells. This eMedTV resource offers an in-depth look at this disabling condition, including its causes, symptoms, treatment options, and more.
As explained in this eMedTV selection, Tay-Sachs is caused by a mutation of the HEXA gene located on chromosome 15. This article discusses these causes in more detail, explaining how they affect the body and how the HEXA gene is inherited.
As this eMedTV article explains, symptoms of Tay-Sachs disease are different for infants and adults. This Web page takes a closer look at possible symptoms of the condition, including seizures, loss of motor skills, and muscle weakness.
An important part of diagnosing Tay-Sachs is a blood test that measures beta-hexosaminidase A activity. This eMedTV Web page describes this blood test in detail and explains its importance in making a Tay-Sachs diagnosis.
Tay-Sachs testing generally consists of either a blood test or prenatal testing. This eMedTV page describes the various testing methods used and explains the effectiveness of blood and prenatal tests.
A mutation in the Tay-Sachs chromosome causes Tay-Sachs disease. This article from the eMedTV library provides a detailed look at this chromosome, including where it is located and how mutations in it are responsible for disease.
This eMedTV segment lists various forms of treatment for Tay-Sachs, including medications, nutrition, and proper hydration. Although the disease is incurable, treatment can help control symptoms and make eating easier.
Children have a 25 percent chance of inheriting Tay-Sachs disease if both parents are carriers. This eMedTV page explains how the disease is passed from parent to child, the probability of inheriting it, and information on diagnosing the disease.
Tay-Sachs research is primarily focused on finding a cure for this progressive disorder. As this eMedTV page explains, research scientists are exploring enzyme replacement therapy, bone marrow transplantation, and gene therapy as potential cures.
This eMedTV article offers important information on Tay-Sachs and who it affects. The disease is actually rare in the general population and tends to affect certain population groups more than others, such people of Ashkenazi (Jewish) descent.
The history of Tay-Sachs disease dates back to 1881, when a symptom of the condition was first identified. This eMedTV page offers a brief overview of the history of the disease and the doctors who discovered it (and for whom the disease is named).
