Tay-Sachs disease is a disease that is inherited, characterized by very rapid development, damage to the central nervous system and brain of the child.
The disease was first described by the English ophthalmologist Warren Tey and the American neurologist Bernard Sachs in the 19th century. These outstanding scientists have made an invaluable contribution to the study of this disease. Tay-Sachs disease is a fairly rare disease. Certain ethnic groups are predisposed to it. Often this disease affects the population of the French of Quebec and Louisiana in Canada, as well as Jews living in Eastern Europe. In general, the incidence of the disease in the world is 1:250,000.
Causes of disease
Tay-Sachs disease occurs in a person who inherits mutant genes from both parents. In the case when only one of the parents is the carrier of the gene, the child may not get sick. But, in turn, it becomes a carrier of the disease in 50% of cases.
When a person has an altered gene, his body stops the production of a certain enzyme - hexosaminidase A, which is responsible for the breakdown of complex natural lipids in cells (gangliosides). Bring out thesesubstances from the body is not possible. Their accumulation leads to blocking of the brain and damage to nerve cells. This is what causes Tay-Sachs disease. Photos of the sick can be seen in this article.
Diagnosis
Like other hereditary diseases of newborns, this disease can be diagnosed at an early stage. If parents have a suspicion that their baby is suffering from Tay-Sachs syndrome, then you need to urgently contact an ophthalmologist. 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 spot occurs due to the accumulation of gangliosides in the cells of the retina.
Then, tests such as a screening test (extensive blood test) and microscopic analysis of neurons are carried out. The screening test shows if the protein hexosaminidase type A is produced. Neuronal analysis reveals if they have gangliosides.
If parents know in advance that they are carriers of a dangerous gene, then it is also necessary to undergo a screening test, which is carried out at 12 weeks of pregnancy. During the study, blood is taken from the placenta. As a result of the test, it will become clear whether the child has inherited mutant genes from his parents. This test is also carried out in adolescents and adults with similar symptoms of the disease and poor heredity.
Disease development
A newborn with Tay-Sachs syndrome looks like all children and appears to be quite he althy. It is common when such rare diseasesdo 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, holds objects in his hands, makes some sounds, perhaps starts to crawl.
Since the gangliosides in the cells are not broken down, enough of them accumulate for the baby to lose the 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.
Baby symptoms:
- At 3-6 months, the baby 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, cannot focus his vision on an object, his eyes twitch, and later his vision deteriorates.
- At 10 months, the activity of the baby decreases. It becomes difficult for him to move (sitting, crawling, turning over). Vision and hearing are dulled, apathy develops. Head size may increase (macrocephaly).
- After 12 months, the disease is gaining momentum. The mental retardation of the child becomes noticeable, he very quickly begins to lose hearing, vision, muscle activity worsens, breathing difficulties arise, seizures appear.
- At 18months, the child completely loses hearing and vision, convulsions, spastic movements, generalized paralysis appear. The pupils do not react to light and are dilated. Further, decerebrate rigidity develops due to brain damage.
- After 24 months, the baby suffers from bronchopneumonia and most often dies before the age of 5. If the child was able to live longer, he develops a disorder in the coordination in the contractions of different muscle groups (ataxia) and a slowdown in motor skills, which progresses between 2 and 8 years.
Tay-Sachs disease has other forms as well.
Juvenile hexosaminidase A deficiency
This form of the disease begins to appear in children between the ages of 2 and 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 movements. All this does not particularly attract the attention of adults.
The following happens:
- muscle weakness appears;
- small convulsions;
- slurred speech and impaired thought processes.
Illness at this age also leads to disability. The child lives to be 15-16 years old.
Youthful amorotic idiocy
The disease begins to progress at 6-14 years. It has a weak course, but as a result, the sick person acquires blindness, dementia, muscle weakness, possibly paralysis of the limbs. Having lived with this disease evena few 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, seizures. 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.
Treatment of Tay-Sachs disease
This disease, like all degrees of idiocy, has no cure yet. Patients are prescribed supportive care and meticulous care. Usually, drugs prescribed for 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, so 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 a couple, aimed at identifying a mutation in the genes that characterizes Tay-Sachs disease. If so, then it should be advised not to try to have children.
If your child is sick
In home care, you need to learn how to do postural drainage and nasogastric suction. You will have to feed the child through a tube, also make sure that there are no bedsores on the skin.
IfIf you have other he althy children, then you need to test them for the presence of the mutant gene.
