The Disease is Tay-Sachs – a disease that is inherited, and is characterized by rapid development, Central nervous system and brain of the child.
The Disease was first described by English ophthalmologist Warren Teem and the American neurologist Bernard Sachs in the nineteenth century. These outstanding scientists have made an invaluable contribution to the study of this disease. The disease Tay-Sachs-a rare disease. Predisposed to certain ethnic groups. Often this disease affects people of French Quebec and Louisiana in Canada, as well as Jews living in Eastern Europe. Even in the world, the incidence of 1:250000.
The Disease is Tay-Sachs occurs in a person who inherits genes mutants from both parents. In the case where the gene is only one of the parents, the child may not be sick. But, in turn, becomes a carrier of the disease in 50% of cases.
In the presence of an altered gene, his body stops production of a specific enzyme – hexosaminidase And who is responsible for the natural breakdown of complex lipids in cells (gangliosides). The withdrawal of these substances from the body is not possible. Their accumulation leads to the blockage of the brain and damage nerve cells. This causes the disease Tay-Sachs. Photos cases can be seen in this article.
Like other hereditary diseases in newborns, this disease can be diagnosed in the early stages. If parents suspect that their child suffers from the syndrome Tay-Sachs, then you need to go to the optometrist. After all, the first symptom of this terrible disease is a cherry-red spot, which is observed in fundus examination of a child. The stain is caused by the accumulation of gangliosides in cells of the retina.
Then conducting such studies as a screening test (extensive blood) and microscopic analysis of neurons. A screening test shows if there is development of protein hexosaminidase type A. Analysis of neurons identified, including the gangliosides.
If parents know in advance that are carriers of the gene threat, you must also pass the screening test held on 12 week of pregnancy. In the study, blood was taken from the placenta. The test result will be clear, whether the child inherited genes are mutants from their parents. This test is still carried out in adolescents and adults with the appearance of similar symptoms of the disease and of bad heredity.
Newborn baby suffering from syndrome Tay-Sachs, looks like all the other children and seems quite healthy. The usual case, when such rare diseases do not manifest immediately, and in the case of disease before the only for six months. To 6 months the child is behaving in the same way as his peers. That is, keeps the head, objects in the hands, emits some sounds may be starting to crawl.
As the gangliosides in cells is not broken down, they accumulate enough to little lost of acquired skills. The child does not respond to other people, his eyes directed to one point, there is apathy. Over a period of time develops blindness. Later, the child's face becomes like a puppet. Usually children with rare diseases, which are associated with mental retardation, do not last long. In the case of Tay-Sachs child becomes disabled and rarely live up to 5 years.
Symptoms in babies:
The Disease is Tay-Sachs are represented by other forms.
This form of the disease begins to manifest in children aged 2 to 5 years. The disease develops much slower than in infants. Therefore, the symptoms of this hereditary disease is not obvious. Appear mood swings, clumsiness in movements. It's not particularly noteworthy adults.
The following occurs:
The Disease in this age also leads to disability. Child live to 15-16 years.
The Disease begins to progress in 6-14 years. Has a weak flow, but in the end ill becomes blindness, dementia, muscle weakness, possible paralysis of the limbs. Having lived with this disease even several years, the children die in a state of insanity.
Usually appears in people who have lived for 30 years. The disease in this form has a slow current and, as a rule, proceeds easily. There are mood swings, slurred speech, clumsiness, reduced intelligence, mental disorders, muscle weakness, seizures. Syndrome Tay-Sachs in the chronic form was opened relatively recently, so forecasts for the future are to do is not possible. But it is clear that the disease will definitely lead to disability.
This disease, as with all the degree of idiocy, has not yet found a methods of treatment. Patients prescribed maintenance therapy and care. Typically, drugs are prescribed against seizures do not apply. Since babies have no swallowing reflex and often have to feed them through a tube. The immune system of a sick child is very weak, so you have to treat comorbidities. Children usually die due to any viral infection.
The Prevention of this disease is a survey of couples, aimed at identifying mutations in genes that characterizes the disease Tay-Sachs. If any, it is recommendation is not to try to have children.
At home care you need to learn how to do postural drainage and nasogastric aspiration. Feed the baby will have through the probe, and to ensure the skin does not have any bedsores.
If you have other healthy children, it is necessary to the conduct of their examination for the presence of a gene mutant.
Article in other languages:
AR: https://tostpost.com/ar/health/16893-the-disease-tay-sachs-a-rare-hereditary-disease.html
BE: https://tostpost.com/be/zdaro-e/32649-hvaroba-teya-saksa-redkae-spadchynnae-zahvorvanne.html
DE: https://tostpost.com/de/gesundheit/32320-die-krankheit-tay-sachs-eine-seltene-erbkrankheit.html
HI: https://tostpost.com/hi/health/18534-tay.html
JA: https://tostpost.com/ja/health/16575-the-disease-tay-sachs-a-rare-hereditary-disease.html
PL: https://tostpost.com/pl/zdrowie/34022-choroba-taya-sachsa-rzadka-choroba-dziedziczna.html
PT: https://tostpost.com/pt/sa-de/33808-a-doen-a-de-tay-sachs-uma-doen-a-heredit-ria-rara.html
UK: https://tostpost.com/uk/zdorov-ya/33180-hvoroba-teya-saksa-r-dk-sne-spadkove-zahvoryuvannya.html
Alin Trodden - author of the article, editor
"Hi, I'm Alin Trodden. I write texts, read books, and look for impressions. And I'm not bad at telling you about it. I am always happy to participate in interesting projects."
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