Tay-Sachs Disease

Tay-Sachs disease is a serious genetic disorder that often causes death by 5 years old. It is inherited when both parents carry the gene. The absence of a vital enzyme known as Hex A causes loss of neurological function that leads to spasms, muscle deterioration, paralysis and blindness. Tay-Sachs disease is considered a rare illness. In fact, only 16 new cases are reported in the United States each year. Jewish people of central and eastern European descent are thought to be most at risk for Tay-Sachs. The National Tay-Sachs & Allied Diseases Association of Delaware Valley also advises people of Cajun and French-Canadian heritage be tested to see if they carry the gene. (A person with only one Tay Sachs gene will be unaffected by it. But a child who inherits two genes will develop the disease.)

Symptoms for Tay-Sachs disease

In most instances, the disease begins showing symptoms early in life (around 3 to 6 months after birth). However, the U.S. National Library of Medicine reports that in extremely rare cases, it can come about later in life. This is known as late-onset Tay-Sachs disease. The encouraging news is that this type of Tay-Sachs is usually not as devastating when compared to the other kind. But it is still serious and is associated with muscle weakness, speech problems, mental illness, and loss of coordination/movement issues. Most people with Tay-Sachs demonstrate symptoms during infancy. This typically involves a regression in development and motor skills. Seizures, vision and hearing loss, and intellectual disabilities have all been linked to the disease.

Treatment

At this point in time, there is no cure for Tay-Sachs. Treatment options focus on relieving the symptoms in order to make living with the disease more manageable. For instance, anticonvulsants may be used to help control seizures. A 2013 study from McMaster University in Ontario found that inhibiting a gene called TNFa in mice greatly reduced Tay-Sachs symptoms. The researchers say the discovery represents a breakthrough in our basic understanding of the disease.

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