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Tay–Sachs disease You will inherit to boredom disease From brain fat metabolism.
The most common form of Tay-Sachs. disease It is unmistakable in childhood.
Check out our 31 interesting facts about Tay-Sachs disease :
Causes
1) Caused by mutations in genes (genes are located on chromosomes and regulate specific processes and changes within the physiological body).
2) Without HEX-A, a fatty substance (GM2 ganglioside) accumulates in the cells in an abnormal posture, especially in the neurons of the brain. This continuous accumulation increases cellular damage.
3) The less beta-hexosaminidase someone has, the harder it is to make progress. the disease And that the symptoms are more noticeable.
4) Babies can only get TSD if they inherit the gene from both caregivers.
5) If a caregiver with two wearers gives birth to a baby, there are three outcomes.
- Both caregivers will pass the genetic mutation to the child. The baby will suffer. the disease Depending on the mutation passed, it will probably die at a much younger age.
- One caregiver will pass the genetic mutation to the child and the other will not. In the meantime, the baby will not suffer. the disease However, he will become a carrier of the TS gene.
- Both caregivers will not pass the genetic mutation on to the child. The baby becomes healthy and leads a normal life.
Symptoms
6) TSD usually appears at a young age (3-6 months). However, it may occur only in young adulthood or adulthood.
7) The most important symptoms are the disease include:
- Convulsions (seizures);.
- Excessive fear at movement or sound
- Muscles;.
- Hearing or loss of facial;.
- Difficulty swallowing;.
- Increasing weakness until the bedridden person loses the ability to move.
- Loss of skills he has already mastered.
- Very slow commotion, e.g., learning to crawl.
Species
8) There are three forms of TSD and these are distinguished by the cumulative age at which the disease occurs.
9) Traditional Infantiel Tay – Sachs Syndrome – Symptoms are noticed at about 6 months of age; the infant form of TSD is characterized by the literal absolute absence of Hex A enzyme output; and the infant form of TSD is characterized by a very low level of enzyme output.
10) Juvenile Tay – Sachs Syndrome – Symptoms usually appear between 2 and 5 years. However, they have a good chance to appear anytime during childhood. As a rule, coordination problems are considered one of the first signs.
(11) Symptoms of late-onset Tay-Sachs usually appear in adolescence or early adulthood. The first symptoms associated with late onset TSD are
- Progressive muscle weakness;.
- Mood swings
- clumsiness.
History
12) The disease Mentioned with respect to Bernard Sacks (in 1887 he outlined cellular composition and followed the importance of overestimating of disease Ashkenazian Jews) and Warren Tay (in 1881 he outlined the reddish place of the retina).
(13) TSD was recognized as one of Gaucher and Niemann-Pick’s criteria in the mid-1960s. diseases Without the usual field of degradative enzymes, an accumulation of cellular waste components is possible. Over time, these destroy the normal function of the organ.
(14) The rarest sheep breeds were used as models for the TSD test for susceptibility to disease. the disease .
Diagnosis
15) The TS blood test, still known as carrier screening, identifies TS non-carriers and carriers.
16) In addition to the enzyme-based HEX-A activity test, diagnosis can also be made by genetic testing using the polymerase chain reaction. This diagnostic method is even more applicable when the origin of both carriers is known.
(17) Prenatal TSD testing can be performed at 11 weeks gestation through the flake test. Between the 15th and 18th month of pregnancy, a woman can receive amniotic fluid to test for the TS gene.
Concerns.
18) There are no small doses of medications for any form of TSD.
19) All kinds of medications are considered possible ways to cure TSD. These include
- Pharmacologic chaperone therapy;.
- Substrate inhibition;.
- Enzyme replacement therapy;.
- stem cell therapy; and
- Gene therapy.
(20) Enzyme replacement therapy was a way to cure TSD and other lysosomal storage disorders.
(21) Therapies aimed at braking ganglioside synthesis have been studied in a slowly implemented form.
(22) In the early 2000s, a team of German and Italian researchers showed that injecting a microbe that infected cells with a missed gene could alleviate symptoms of TSD in mice suffering from it.
Life expectancy
(23) Babies born with juvenile TS usually die before the age of 15.
24) Babies born with infant TS, including babies who receive the best treatment available, usually die before age 5.
25) Late imaging does not shorten life expectancy in all cases
Ashkenazi Jews and the Inheritance of “Jewish Disease”
26) TSD is common in Ashkenazi Jews and French Canadians. Statistically, 1 in 27 of these populations is a carrier of the TS mutation.
27) The incidence of TSD in Ashkenazi Jews is 1 in 3500 newborns. is about 1 in 3500 newborns.
28) A very compelling doctrine as to why TSD is disproportionately prevalent in the Ashkenazi Jewish community is that the mutation is becoming increasingly common because they are marrying primarily within their own personal communities.
29) Carrier screening programs for TSD have decreased in disease The incidence is 90%; since 1970, more than 1.4 million people worldwide have undergone voluntary testing to determine if they are carriers of the mutated gene for TSD.
30) The actual highest risk audience – Irish Americans. People of Irish descent have a reported 1 in 50 chance of being carriers of the TS gene.
31) One in 300 people without this background are thought to carry the TS gene.
Source: https://www. science-direct. com/science/article/pii/s2214426914000627 https://ufhealth. org/tay-sachs-disease/research-study
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