Tay-Sachs disease is a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. 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 blind, deaf, and unable to swallow. Muscles begin to 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 unsteadiness of gait and progressive neurological deterioration. Patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes. 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 carriers in order to have an affected child. When both parents are found to carry a genetic mutation in hexosaminidase A, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal monitoring of pregnancies is available if desired.
  • eMedTV: Tay-Sachs Disease Offers medically reviewed information on the symptoms, causes, diagnostic tests and current treatments.
  • 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.
  • NHS Choices: Tay-Sachs Disease Provides information on this rare inherited disorder that results in the progressive destruction of nerve cells in the brain and spinal cord. Includes details of symptoms, causes, diagnosis, treatment and prevention.
  • NINDS: Tay-Sachs Disease Information sheet on this disease addressing what it is, treatment and prognosis.
  • Project Shui A Bar Mitzvah boy's web-based project to raise funds for a gene therapy cure for Tay-Sachs disease.

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