The Disease Tay-Sachs. A rare hereditary disease

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2019-05-04 03:00:24

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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.

disease Tay Sachs

Causes

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.

Diagnostics

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.

rare diseases

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.

Disease progression

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.

disease Tay Sachs photo

Symptoms in babies:

  • 3-6 months the child starts to lose contact with the outside world. This is manifested in the fact that he didn't know and loved ones who only respond to loud sounds, cannot focus on the subject's eyes flinch, later deteriorating eyesight.
  • 10 months, the activity of the baby is reduced. It becomes difficult to move (sit up, crawl, roll over). Vision and hearing dulled, develops apathy. Can increase the head (Cephalonia).
  • After 12 months, the disease is gaining momentum. Becomes noticeable mental retardation of the child, it very quickly starts to lose hearing, vision, muscle activity worsens the difficulty in breathing, seizures appear.
  • At 18 months the child is completely deprived of hearing and sight, appear convulsions, spastic movements, generalized paralysis. Pupils not reactive to light and dilated. Further develops decerebration rigidity due to brain damage.
  • After 24 months baby suffering from bronchopneumonia andthis files most often die before the age of 5 years. If the child is able to live longer, he develops a disorder of coordination of contractions of different groups of muscles (ataxia), and slow motor skills, which progresses between 2 and 8 years.

syndrome Tay Sachs

The Disease is Tay-Sachs are represented by other forms.

Juvenile failure of hexosaminidase

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:

  • Muscle weakness;
  • Small seizures;
  • Slurred speech and disturbance of thought processes.

The Disease in this age also leads to disability. Child live to 15-16 years.

the degree of idiocy

Youth amortizasiya idiocy

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.

A Chronic form of deficit hexosaminidase

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.

Treatment for Tay-Sachs

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.

inherited disease of the newborn

If your child is ill

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

ES: https://tostpost.com/es/la-salud/32194-enfermedad-de-tay-sachs-es-una-rara-enfermedad-hereditaria.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

KK: https://tostpost.com/kk/densauly/32986-bolezn-teya-saksa-auruy-sirek-kezdeset-n-m-ragerl-k-auru.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

TR: https://tostpost.com/tr/sa-l-k/29394-tay-sachs-hastal-nadir-g-r-len-kal-tsal-bir-hastal-kt-r.html

UK: https://tostpost.com/uk/zdorov-ya/33180-hvoroba-teya-saksa-r-dk-sne-spadkove-zahvoryuvannya.html

ZH: https://tostpost.com/zh/health/4596-tay-sachs.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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