Tay-Sachs Disease

Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in tissues and nerve cells of the brain. This buildup destroys the nerve cells, causing mental and physical problems.

Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, mental and physical abilities deteriorate. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4.

Tay-Sachs is most common in Eastern European Ashkenazi Jews. A blood test can determine if you carry or have the disease. There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes.

National Institute of Neurological Disorders and Stroke

Tay-Sachs Disease on Wikipedia

'''Tay-Sachs disease''' (abbreviated '''TSD''') is a fatal genetic disorder, inherited in an autosomal recessive pattern, in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. The disease is named after the United Kingdom ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs who described the cell (biology) changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish population of 1887.

Signs and symptoms

Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blindness, deafness, and unable to swallowing. Muscles begin to muscular atrophy and paralysis sets in. A much rarer form of the disorder which occurs in patients in their twenties and early thirties is characterized by ataxia and progressive neurological deterioration. Patients with Tay-Sachs have a cherry-red spot in the back of their eyes (the retina).

Pathogenesis

The condition is caused by insufficient activity of an enzyme called 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. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures hexosaminidase A activity. Both parents must be autosomal recessive in order to have an affected child. Prenatal monitoring of pregnancies is available if desired. To expand on the genetic basis, Tay-Sachs is an autosomal recessive ... [ Read More ]

External Resources

Molecular Genetics Testing Laboratory: Ashkenazi Jewish Genetic Disease Screen - Information about a test for seven common inherited diseases in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome, familial dysautonomia and Fanconi anemia.

National Tay-Sachs and Allied Diseases Association - An organization offering support and programs geared to families affected by Tay-Sachs Disease and over 40 other fatal degenerative genetic disorders.

Tay-Sachs Disease - A description along with prognosis and treatment of this disease.

Tay-Sachs Disease - Information sheet on this disease addressing what it is, treatment and prognosis.

Tay-Sachs Disease - Discussion on what it is, how it is transmitted, are certain populations at higher risk, is there a test to see if one is a carrier and is there a way to prevent this disease.

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