Tay-Sachs Disease Causes Mental Retardation

Tay-Sachs disease is a rare genetic disorder, which occurs in the formation of fat cells, particularly in brain and nerve cells (neurons). Causing mental retardation and physical barriers to the development of normal accompanied by seizures, blindness, paralysis and death. There is no specific treatment for this disorder.

This disease consists of several types, whereas the focus in this article is Tay-Sachs Infantil Acute most frequently found.

People with this disease have enzyme levels heksosamidase A (hex A) is low compared to those working to solve this normal.Enzim gangliosida (a fat) in body cells. These fatty compounds are gradually buried and cause damage to brain cells and nerves so that these cells do not function properly.


Tay-Sachs is an autosomal disorder that is recessive. That is, the disease is genetically inherited from both parents. If a person inherits the gene from one parent, he referred to as the carrier / career, meaning he Tay-Sachs carriers of the gene but does not suffer from the disease. Usually people with this career has a hex A levels approximately 50% of the levels of normal people.

The disorder is most often found in Ashkenazi Jewish communities in Central and Eastern Europe, with a ratio of about 1 in 30 people in the population group that represents people with careers.

French society in Canada or Cajun also have a high risk compared with other general population.

If you are considering to have children, The American College of Obstetricians and Gynecologists (ACOG) recommends:

1. The husband and wife should both be checked if both of them are Ashkenazi Jewish or French Canadian or Cajun people who were born or have a history of this disease in her family. Consider if both partners tested positive as carriers / careers.
2. One partner must be examined, if one of them descendants of Ashkenazi Jewish or French Canadian or Cajun people who were born or have a history of this disease in her family. If one of them is positive as a carrier / careers, then the other partner should be examined.

Babies with Tay-Sachs Infantil Acute will look healthy / without symptoms at birth. Symptoms usually appear at age 3-6 months, beginning with mild motor weakness and occasional twitch of the eye (myoclonic tugs). At the age of 6 to 10 months experience loss of motor function and after that the situation will deteriorate rapidly with the symptoms: seizures, blindness, paralysis and death usually occurs by age 4 or 5 years.