What is the life expectancy of someone with Tay-Sachs disease?
What is the life expectancy of someone with Tay-Sachs disease?
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.
What happens in Tay-Sachs disease?
Tay-Sachs disease is a rare disorder passed from parents to child. It’s caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the child’s brain and affect the function of the nerve cells.
How do you get Tay-Sachs disease?
Tay-Sachs disease is inherited in an autosomal recessive manner. This means that to have the disease, a person must have a mutation in both copies of the responsible gene in each cell. There is nothing either parent can do, before or during a pregnancy, to cause a child to have Tay-Sachs disease.
Who is most likely to get Tay-Sachs disease?
Tay-Sachs disease occurs with greater frequency among Jewish people of Ashkenazi descent, i.e. those of Eastern or Central European descent. Approximately one in 30 Ashkenazi Jewish people carries the altered gene for Tay-Sachs disease.
Can people with Tay-Sachs have kids?
If both parents are carriers of Tay-Sachs disease, there is a 25% chance that any child they have will get the disease.
What part of the body does Tay-Sachs affect?
Tay-Sachs disease affects the nerve cells in the brain and spinal cord.
How many babies are born with Tay-Sachs disease?
In the general population about one out of every 320,000 babies born has Tay-Sachs disease.
Can Tay-Sachs disease be detected before birth?
Tay-Sachs can be detected before birth, so couples who are thinking of having children may want to get a blood test to find out whether their child would be likely to have it.
How Does Tay-Sachs affect everyday life?
Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis.
Why do Jews have Tay-Sachs?
The Ashkenazi Jewish population is enriched for carriers of a fatal form of Tay-Sachs disease, an inherited disorder caused by mutations in the alpha-chain of the lysosomal enzyme, beta-hexosaminidase A.
Is there treatment for Tay-Sachs?
There is no cure for Tay-Sachs disease, but some treatments can help in managing symptoms. The goal of treatment is support and comfort. Supportive treatments include: Medication.
What parts of the body are first affected by this disease called Tay-Sachs?
Tay-Sachs is a disease of the central nervous system. It’s a neurodegenerative disorder that most commonly affects infants.
How does a child get Tay-Sachs?
Tay-Sachs can occur when parents pass on a changed gene to their child. If a baby gets the changed gene from both parents, he or she will get the disease. If the baby gets the changed gene from only one parent, he or she will be a carrier.
Who should get tested for Tay-Sachs?
Abstract. Carrier testing for Tay-Sachs disease should be offered to couples when at least one individual is of Ashkenazi Jewish (carrier frequency 1/30), Pennsylvania Dutch, Southern Louisiana Cajun, or Eastern Quebec French Canadian descent. Ideally, testing is done prior to conception.
Is Tay-Sachs disease more common in one ethnicity?
Examples of genetic conditions that are more common in particular ethnic groups are sickle cell disease, which is more common in people of African, African American, or Mediterranean heritage; and Tay-Sachs disease, which is more likely to occur among people of Ashkenazi (eastern and central European) Jewish or French …
What gender does Tay-Sachs affect?
Males and females are equally affected. Tay-Sachs disease is a degenerative condition, meaning that symptoms become worse over time. In people with TSD the nerve cells in the brain and spinal cord are progressively destroyed, leading to paralysis.