Tay-Sachs disease is a disease that is inherited, characterized by a very rapid development, damage to the central nervous system and brain of the child.
The disease was first described by the English ophthalmologist Warren Tay and the American neurologist Bernard Sachs in the 19th century. These outstanding scientists have made an invaluable contribution to the study of this ailment. Tay-Sachs disease is a fairly rare disease. Certain ethnic groups are predisposed to it. Often this disease affects the French population of Quebec and Louisiana in Canada, as well as Jews living in Eastern Europe. In the whole world, the incidence of the disease is 1: 250,000.
Causes of the disease
Tay-Sachs disease occurs in a person who inherits mutant genes from both parents. In the case when the carrier of the gene is only one of the parents, the child may not get sick. But, in turn, it becomes a carrier of the disease in 50% of cases.
If a person has a modified gene, his body stops the production of a specific enzyme - hexosaminidase A, which is responsible for the breakdown of complex natural lipids in the cells (gangliosides). It is not possible to remove these substances from the body. Their accumulation leads to blockage of the brain and damage to nerve cells. This causes Tay-Sachs disease. Photos of patients can be seen in this article.
Diagnostics
Like other hereditary diseases of newborns, this ailment can be diagnosed in the early stages. If parents have a suspicion that their baby is suffering from Tay-Sachs syndrome, then you need to urgently contact an optometrist. After all, the first sign of this terrible disease is a cherry-red spot, which is observed when examining the fundus of a child. The stain occurs due to the accumulation of gangliosides in the cells of the retina.
Then, studies such as a screening test (extensive blood count) and microscopic analysis of neurons are performed. A screening test shows whether type A hexosaminidase is produced. An analysis of the neurons reveals whether they have gangliosides.
If parents know in advance that they are carriers of a dangerous gene, then it is also necessary to pass a screening test, which is carried out at 12 weeks of gestation. During the study, blood is taken from the placenta. As a result of the test, it will become clear whether the child inherited the mutant genes from their parents. This test is also carried out in adolescents and adults with the appearance of similar symptoms of the disease and poor heredity.
Disease development
A newborn suffering from Tay-Sachs syndrome looks like all children and seems to be completely healthy. It is commonplace when such rare diseases do not appear immediately, but in the case of the disease in question only by six months. Up to 6 months, the child behaves in the same way as his peers. That is, he holds his head well, objects in his hands, makes some sounds, maybe begins to crawl.
Since gangliosides in the cells do not split, they accumulate a sufficient amount so that the baby loses its acquired skills. The child does not react to the people around him, his gaze is directed to one point, apathy appears. After a certain period of time, blindness develops. Later, the child's face becomes like a puppet. Usually children with rare diseases that are associated with mental retardation do not live long. In the case of Tay-Sachs disease, the baby becomes disabled and rarely survives to 5 years.
Symptoms of the disease in infants:
- At 3-6 months, the child begins to lose contact with the outside world. This is manifested in the fact that he does not recognize close people, is able to respond only to loud sounds, can not focus his vision on the subject, his eyes shudder, and his vision deteriorates later.
- At 10 months, the baby's activity decreases. It becomes difficult for him to move (sit, crawl, roll over). Vision and hearing become dull, apathy develops. Head size may increase (macrocephaly).
- After 12 months, the disease is gaining momentum. The child’s mental retardation becomes noticeable, he very quickly begins to lose his hearing, eyesight, muscle activity worsens, breathing difficulties occur, and attacks appear.
- At 18 months, the child is completely deaf and hard of hearing, convulsions, spastic movements, generalized paralysis appear. The pupils do not respond to light and are dilated. Further, decerebral rigidity develops due to brain damage.
- After 24 months, the baby suffers from bronchopneumonia and most often dies before reaching 5 years of age. If the child was able to live longer, he develops a disorder of consistency in contractions of different muscle groups (ataxia) and a slowdown in motility, which progresses between 2 and 8 years.
Tay-Sachs disease is represented by other forms.
Juvenile hexosaminidase A deficiency
This form of the disease begins to appear in children aged 2 to 5 years. The disease develops much more slowly than in infants. Therefore, the symptoms of this hereditary disease are not immediately visible. There are mood swings, clumsiness in the movements. This is all not particularly noteworthy for adults.
Then the following happens:
- muscle weakness appears;
- small cramps;
- slurred speech and violation of thought processes.
A disease at this age also leads to disability. The child survives to 15-16 years.
Juvenile amovrotic idiocy
The disease begins to progress in 6-14 years. It has a weak course, but as a result, the patient becomes blind, dementia, muscle weakness, possibly paralysis of the limbs. Having lived with this disease even for several years, children die in a state of insanity.
Chronic form of hexosaminidase deficiency
Usually appears in people who have lived for 30 years. The disease in this form has a slow course and, as a rule, proceeds easily. There are mood swings, slurred speech, clumsiness, decreased intelligence, mental abnormalities, muscle weakness, and attacks. Chronic Tay-Sachs syndrome was discovered relatively recently, so it is not possible to make predictions for the future. But it is clear that the disease will definitely lead to disability.
Tay-Sachs Disease Treatment
This disease, like all degrees of idiocy, does not yet have methods of treatment. Patients are prescribed maintenance therapy and careful care. Usually, drugs that are prescribed against seizures do not work. Since babies do not have a swallowing reflex and often have to feed them through a tube. The immunity of a sick child is very weak, therefore, it is necessary to treat concomitant diseases. Usually children die due to some kind of viral infection.
Prevention of this disease is the examination of the pair, aimed at identifying a mutation in the genes that characterizes Tay-Sachs disease. If any, then a recommendation should not be made to have children.
If your child is sick
With home care, you need to learn how to do postural drainage and nasogastric suction. It will be necessary to feed the child through a probe, and also make sure that no pressure sores occur on the skin.
If you have other healthy children, then you need to examine them for the presence of a mutant gene.