How Does Tay-Sachs affect everyday life?

How Does Tay-Sachs affect everyday life?

Infants with this condition develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience involuntary muscle twitches (myoclonic jerks), seizures, difficulty swallowing (dysphagia), vision and hearing loss, and intellectual disability.

How long does someone with Tay-Sachs live?

The condition is usually fatal by around 3 to 5 years of age, often due to complications of a lung infection (pneumonia). Rarer types of Tay-Sachs disease start later in childhood (juvenile Tay-Sachs disease) or early adulthood (late-onset Tay-Sachs disease). The late-onset type doesn’t always shorten life expectancy.

Does Tay-Sachs affect a certain gender?

Tay-Sachs disease affects males and females in equal numbers. Tay-Sachs disease used to be considered a prototypical disease of Jewish people of Ashkenazi descent.

HOW DID Tay-Sachs get its name?

The disease is named after the British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs of Mount Sinai Hospital who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish ( …

How long does a child with Tay-Sachs live?

Tay-Sachs disease (TSD) is a genetic condition that affects the nervous system. It becomes progressively worse over time. Symptoms usually first appear at around six months of age in previously healthy babies. The life expectancy for children with TSD is around five years of age.

Can Tay-Sachs be detected before birth?

Before or during a pregnancy, couples can get screened for the Tay-Sachs gene with a simple blood test. If both carry the Tay-Sachs gene, a genetic counselor can provide more information. Pregnant women can have their unborn babies tested for Tay-Sachs disease through chorionic villus sampling (CVS) or amniocentesis.

What causes cherry red spot in Tay-Sachs?

The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called ‘cherry red spot’ is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion.

Is Tay-Sachs more common in males or females?

Tay-Sachs disease (TSD) is a genetic condition that affects the nervous system. It is caused by an alteration in the HEXA gene on chromosome 15. TSD is more commonly seen in people who are of Ashkenazi Jewish or French-Canadian descent. Males and females are equally affected.

Will there ever be a cure for Tay-Sachs?

There is no cure for Tay-Sachs disease, and no treatments are currently proved to slow progression of the disease. Some treatments can help in managing symptoms and preventing complications.

Can a person with Tay-Sachs have children?

A child can only have Tay-Sachs disease if both parents are carriers of the gene. When two carriers have a child together, there’s a: 50% chance that their child will be a carrier, but not have the disease.