Tay-Sachs+Disease

__Tay-Sachs Disease__

The disease is named after Warren Tay (1843-1927), a British ophthalmologist, and Bernard Sachs (1858-1944), a New York neurologist.

Tay-Sachs Disease is caused by an abnormal gene that does not contain the enzyme hexosaminidase, which helps break down ganglioside GM2 ( a fatty material ). This material builds up in the brain, damaging the nerve cells and eventually causing neurological problems. These problems can cause the child to become deaf, blind, paralyzed, and the child usually dies by the age of five.

Tay-Sachs Disease is usually caused by a child inheriting a copy of the abnormal gene from each parent; however, the parents do not have the disease, they only carry the gene. The disease follows an autosomal recessive pattern. This means that in order for a child to get the disease, the child must inherit the mutated gene form both parents. If both parents have this gene there is a one-in-four chance that their child will inherit the mutated genes and thus have Tay-Sachs disease.

Jews living in the United States and French Canadians have a (1 in 27) chance of being a carrier of Tay-Sachs The average incidence for being a carrier of tay-sachs is (1 in 250). Being a carrier does not mean that you develop the disease. To find out if someone is a carrier of Tay-Sachs, they can be screen with a simple blood test.

= = Symptoms of Tay-Sachs Disease do not start until the child is about six months old. At this age an apparently normal baby with Tay-Sachs slowly begins to stop smiling, crawling, turning over, and reaching out. The muscles then begin to atrophy (wasting away or deterioration of a tissue), and paralysis sets in. By the time a child with Tay-Sachs disease is three or four years old, the nervous system is so badly affected that the child dies.

The early symptoms of Tay-Sachs Disease include • Loss of muscle tone • Exaggerated response to sudden noises • Lack of energy • Loss of motor skills ( sit up, roll over, crawl, walk ) The advanced symptoms of Tay-Sachs Disease • Paralysis • Deafness • Seizures • Dementia • Loss of vision

A common symptom found in all patients is the appearance cherry-red spots on the the patient's retinas. These spots are easily recognizable with the usage of a ophthalmoscope.

Tay-Sachs is a fatal disease, and no treatment is presently known. The treatment for Tay-Sachs is aimed at relieving the symptoms for the patient. Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.

Other names for Tay-Sachs Disease include:
 * B variant GM2 gangliosidosis
 * GM2 gangliosidosis, type 1
 * HexA deficiency
 * Hexosaminidase A deficiency
 * Hexosaminidase alpha-subunit deficiency (variant B)
 * Sphingolipidosis, Tay-Sachs
 * TSD

[|U.S. National Library of Medicine] [|March of Dimes] [|Dolan DNA Learning Center] [|Medline Plus]