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.
Who is most likely to get Tay-Sachs disease?
Anyone can be a carrier of Tay-Sachs. But, the disease is most common among people with
Ashkenazi Jewish ancestry
. One in every 27 members of the population carries the Tay-Sachs gene. Tay-Sachs is divided into infantile, juvenile, and adult forms, depending on the symptoms and when they first appear.
What race is Tay-Sachs most common in?
Tay-Sachs disease is a rare inherited condition that mainly affects babies and young children. It stops the nerves working properly and is usually fatal. It used to be most common in people of
Ashkenazi Jewish descent
(most Jewish people in the UK), but many cases now occur in people from other ethnic backgrounds.
Who is prone to Tay-Sachs?
While anyone can be a carrier of Tay-Sachs, the incidence of the disease is significantly higher among people of
eastern European (Ashkenazi) Jewish descent
. Approximately one in every 27 Jews in the United States is a carrier of the Tay-Sachs disease gene.
Are males or females more likely to have Tay-Sachs?
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
. Tay-Sachs disease is a degenerative condition, meaning that symptoms become worse over time.
Can you survive Tay-Sachs disease?
Children with Tay-Sachs rarely live beyond 4 years of age
. In late-onset Tay-Sachs (LOTS), early symptoms such as clumsiness or mood changes may be minor or seem “normal” and go unnoticed.
What does Tay-Sachs disease look like?
Signs and symptoms of Tay-Sachs disease can include the following:
Loss of motor skills
, including turning over, crawling and sitting up. Exaggerated reactions when the baby hears loud noises. Seizures.
What part of the body does Tay-Sachs affect?
Tay-Sachs disease affects
the nerve cells in the brain and spinal cord
. Babies with Tay-Sachs lack a particular enzyme, which is a protein that triggers chemical reactions in cells. The lack of the enzyme, hexosaminidase A, causes a fatty substance to collect.
Who should get tested for Tay-Sachs?
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.
When does Tay-Sachs develop?
The onset of juvenile Tay-Sachs disease can be anywhere
between 2 and 10 years of age
. One of the first signs is often clumsiness and incoordination. This occurs because affected children have issues controlling their body's movements (ataxia).
How long does a child with Tay-Sachs live?
Children with Tay-Sachs
rarely live beyond 4 years of age
. In late-onset Tay-Sachs (LOTS), early symptoms such as clumsiness or mood changes may be minor or seem “normal” and go unnoticed.
Where did Tay-Sachs come from?
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 do they test for Tay-Sachs disease?
The diagnosis of Tay-Sachs disease involves a
blood test
that detects absent or very low levels of beta-hexosaminidase A enzyme activity. Molecular genetic testing of the HEXA gene may be used to identify the specific mutations present, or to rule out the disease if a false-positive blood test result is suspected.
Can adults get Tay Sachs?
Tay-Sachs is a disease of the central nervous system. It's a neurodegenerative disorder that most commonly affects infants. In infants, it's a progressive disease that is always fatal. Although rare,
Tay-Sachs can also occur in teens and adults
, causing less severe symptoms.
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
…
How big is the mistake in the DNA code that causes Tay Sachs?
ROBERT KRULWICH: Tay Sachs begins at one infinitesimal spot on the DNA ladder, when just one letter goes wrong. Say this cluster of atoms is a picture of that letter, a mistake here can come down
to just four atoms
. That's it.
