INFORMATION ON TAY-SACHS DISEASE

Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Babies with Tay-Sachs lack an enzyme called hexosaminidase. A necessary for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working.Tay-Sachs disease occurs most frequently in descendants of Central and Eastern European Jews. About one out of every 30 American Jews carries the Tay-Sachs gene.

SYNONYMS OF TAY - SACHS DISEASE

Synonyms and other related keywords:-

1. Amaurotic Familial Idiocy
2. Hexoaminidase Alpha-Subunit Deficiencies
3. Infantile Sipoidosis GM-2 Gangliosides
4. Lipidosis, ganglioside
5. Sphingolipidosis
6. Infantile Cerebral Ganglioside
7. Infantile ganglioside lipidosis
8. Amaurotic Familial Infantile Idiocy

CAUSES OF TAY - SACHS DISEASE

1. Tay-Sachs disease is an inherited metabolic disorder.
2. Tay-Sachs disease is caused by the absence of a vital enzyme called hexosaminidase A. Without hexosaminidase A, a fatty substance or lipid called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. And causes progressive damage to the cells.
3. The destructive process begins in the fetus early in pregnancy, although the disease is not clinically apparent until the child is several months old.
4. By the time a child with Tay-Sachs disease is three or four years old, the nervous system is so badly affected that life it cannot be supported.
5. Even with the best of care, all children with classical Tay-Sachs disease die early in childhood, usually by the age of five.

SYMPTOMS OF TAY - SACHS DISEASE

Signs and symptoms mentioned in various sources for Tay Sachs includes:

1. Loss of learned skills, Loss of smiling
2. Loss of crawling, Loss of grabbing, Loss of rolling over
3. Blindness, Deafness, Unable to swallow
4. Cherry-red spot in the back of their eyes
5. Paralysis, Muscle atrophy, Dementia
6. Slow body growths with increasing head size
7. Delayed mental and social skills

DIAGNOSIS OF TAY - SACHS DISEASE

A preliminary diagnosis for Tay-Sachs disease can usually be made by looking into the baby's eyes. If a baby has Tay-Sachs a characteristic cherry red spot can be seen at the back of the eye. In order to confirm this diagnosis, blood tests are performed that measure the amount of enzyme needed to break down gangliosides. If the level is very low, the baby has Tay-Sachs disease.

Diagnosis of Tay-Sachs disease is made by:
Physical examination,
Taking a family history,
Analysis of blood or body tissue for Hex-A levels, and
Examination of the eye to check for a cherry-red spot in the centre of the retina (the lining of the back of the eye) that is a characteristic of the disease.

TREATMENT OF TAY - SACHS DISEASE

Presently there is no treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube. The treatment would involve providing babies with Tay-Sachs disease new genes. These genes would takeover the job of making the enzyme the babies currently lack. While this technology is now being investigated, no technique has yet been shown to work satisfactorily.