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You are here: Home / Common Cures / What is Tay-Sachs Disease?

What is Tay-Sachs Disease?

April 6, 2010

Tay-Sachs disease is rare genetic disorder that usually proves to be fatal. The disease is characterized by a genetic mutation causing lack of Hexosaminidase A or Hex A enzymes resulting in accumulation of a fatty substance called ganglioside in the tissues present in the brain.

This progressive build up of ganglioside causes damage to the neurons in the brain thereby causing symptoms like decreased vision, hearing, movement thereby affecting the overall mental development.

The chances of developing this inherited disorder increase when both the parents of a child are carriers of Tay-Sachs disease.

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The carriers may or may not develop the symptoms of this disease but they can pass the disease to the offspring. Such predisposed couples are often advised to go for genetic counseling before having children.

Certain ethnic groups like Ashkenazi Jews (Eastern and central European), Cajun population of Louisiana, French-Canadian communities of Quebec, and the Old Order Amish community in Pennsylvania have been found to be more susceptible to Tay-Sachs disease.

Otherwise, the cases of this disease are quite rare in the general population. It can be diagnosed with the help of physical examination and blood tests (Enzyme assay).

Tay-Sachs Disease and Age

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Depending on the onset of the neurological symptoms of Tay-Sachs disease, it can be classified as Infantile Tay-Sachs disease, Juvenile Tay-Sachs disease and Late Onset Tay-Sachs disease. Out of these, the Infantile Tay-Sachs disease is the most common.

It affects infants up around the age of six months and causes symptoms like progressive loss of hearing, movement, sight, exaggerated startle response and the baby eventually stops smiling, sitting, crawling, reaching for things etc due to deterioration of physical and mental abilities.

The child tends to develop Dementia and Seizures by the age of two, eventually leading to death by the age of four or five. Development of cherry red spot on the eyes is one of the most characteristic symptoms of this disease.

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The symptoms tend to become milder in case of the other two types of this disease. Juvenile Tay-Sachs disease occurs in young children ranging from 2 to 10 years in age and causing similar symptoms.

Certain additional symptoms are speech difficulties, loss of muscle coordination, swallowing difficulties and a variety of cognitive problems. Such patients usually die by the age of 15.

The Adult or Late Onset Tay-Sachs disease occurs in individuals in their 20s or late 30s. This disease also causes progressive neurological deterioration but is usually non fatal but causes personality changes and mental illnesses such as Schizophrenic-like psychosis.

But, it is often misdiagnosed in most of the cases because of the presence of a number of ambiguous symptoms. There is no specific treatment for this disease.

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