Tay-Sachs Disease
By: Christiana Small
a. (What) The Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside build up in tissues and nerve cells in the brain and spinal cord. The most common form of this disease becomes visible in infants normally around the age of 3 to 6 months, when their development slows and muscles used for movement weaken.
b. (History) The Tay-Sachs disease is named after two physicians. One who was a British physician named Warren Tay, who first described the red spot on the retina that is indicative of the disease in 1881. The second was the American physician, Bernard Sachs, who described the changes that occur within cells. He also noted an increased prevalence of Tay-Sachs disease in the eastern and central European Jewish population.
c. (Symptoms) Many became blind, deaf, and unable to swallow. Muscles become paralyzed and affected infants lose motor skills such as turning over, sitting, and crawling. There are other symptoms such as dementia, seizures, and an increased startle reflex to noise. A rare form of the disorder occurs in patients in their twenties and early thirties. People with Tay-Sachs disease also seem to have cherry-red spots in their eyes, which can be identified with an eye examination. These symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Main symptoms include muscle weakness, loss of muscle coordination and other problems with movement, speech problems, and mental illness.
d. (Causes) Tay-Sachs disease is inherited from an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the conditions.
e. (Diagnosed) Tay-Sachs disease can occur when parents pass on a changed gene to their child. If a baby gets the gene from both parents, he or she will get the disease. If the baby gets the gene from only one parent, he or she will be a carrier.
f. (Treatment) Right now there is no treatment for this 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.
g. (Prevention) There is no known way to prevent this disorder. Genetic testing can detect if you are a carrier of the gene for this disorder, which is distinguished by a simple blood test, testing for Hex-A levels. If you or your partner ever had this in your family, it is recommended that you both should get tested for this before starting a family. Testing the amniotic fluid can diagnose Tay-Sachs disease in the womb and that is why you should get tested.
h. (Research) The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Tay-Sachs disease in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country. NIH Patient Recruitment for Tay-Sachs disease Clinical Trials at NIH Clinical Center , throughout the U.S.
Links and information about foundations that support Tay-Sachs disease
March of Dimes
askus@marchofdimes.com
Tel: 914-997-4488
Fax: 914-428-8203
Genetic Alliance
4301 Connecticut Avenue, N.W.
info@geneticalliance.org
Tel: 202-966-5557
Fax: 202-966-8553
Educational Video
Bibliography
· Johnston
· Prepared by: Office of Communications and Public Liaison National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda , MD 20892
· http://www.videojug.com/film/tay-sachs-disease
· http://nervous-system.emedtv.com/tay-sachs-disease/history-of-tay-sachs-disease.html
· http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/
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