Thea-Sachs disease. Rare hereditary disease

Thea-Sachs disease is a disease that is inherited, characterized by very rapid development, damage to the central nervous system and the child's brain.

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 ailment. Teya-Sachs disease is a rare disease. Certain ethnic groups are predisposed to it . Often this disease affects the population of the French Quebec and Louisiana in Canada, as well as Jews living in Eastern Europe. In general, the frequency of cases in the world is 1: 250,000.

Causes of the disease

Thea-Sachs disease occurs in a person who inherits mutant genes from both parents. In the case where only one of the parents is the carrier of the gene, the child may not get sick. But, in turn, becomes the carrier of the disease in 50% of cases.

If a person has an altered gene, his body stops producing a certain enzyme - hexosaminidase A, which is responsible for the cleavage of complex natural lipids in cells (gangliosides). It is not possible to remove these substances from the body. Their accumulation leads to blocking the work of the brain and damage to nerve cells. This causes the illness of Thea-Saks. Photos ill can be seen in this article.

Diagnostics

Like other hereditary diseases of newborns, this ailment can be diagnosed at an early stage. If the parents had a suspicion that their baby is suffering from the syndrome of Tay-Sachs, then you need to urgently go to the oculist. After all, the first sign of this terrible disease is a cherry-red spot that is observed when examining the child's eye bottom . The spot appears 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 carried out. The screening test shows whether the production of the type A hexosaminidase protein occurs. Neuronal analysis reveals whether there are gangliosides in them.

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 pregnancy. During the study, blood is taken from the placenta. As a result of the test, it becomes clear whether the child has inherited the mutant genes from his parents. This test is still conducted in adolescents and adults with the appearance of similar symptoms of the disease and poor heredity.

Development of the disease

The newborn, suffering from the syndrome of Thea-Saks, looks like all children and seems quite healthy. It is commonplace when such rare diseases appear not immediately, but in the case of the considered disease only by the half-year. Up to 6 months the child behaves the same way as his peers. That is, it holds well the head, objects in hands, makes some sounds, maybe starts to crawl.

Since the gangliosides in the cells do not split, they accumulate enough to allow the baby to lose the acquired skills. The child does not react to the surrounding people, his gaze is directed to one point, apathy appears. After a certain period of time blindness develops. Later the child's face becomes a kind of 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 lives up to 5 years.

Symptoms of the disease in infants:

• In 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 react only to loud sounds, can not focus the vision on the subject, eyes shake, later vision deteriorates.
• In 10 months the activity of the baby is reduced. It becomes difficult for him to move (sit, crawl, turn over). Vision and hearing become dull, apathy develops. The size of the head (macrocephaly) can increase.
• After 12 months, the disease is gaining momentum. The child's mental retardation becomes noticeable, he very quickly begins to lose his hearing, vision, muscle activity worsens, difficulties arise in breathing, seizures appear.
• At 18 months the child is completely deprived of hearing and sight, convulsions, spastic movements, generalized paralysis appear. Pupils do not respond to light and are dilated. Further, decerebral rigidity develops as a result of brain damage.
• After 24 months, the baby suffers from bronchopneumonia and most often dies before 5 years. If the child has been able to live longer, he develops a disorder of consistency in contractions of different muscle groups (ataxia) and a slowing of motor skills, which progresses between 2 and 8 years.

Thea-Sachs disease is represented by other forms.

Juvenile insufficiency of hexosaminidase A

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 apparent. There are mood swings, clumsiness in the movements. This all does not particularly attract the attention of adults.

Then the following happens:

• There is a muscle weakness;
• Small cramps;
• Inarticulate speech and violation of thought processes.

Disease at this age also leads to disability. The child lives up to 15-16 years.

Youthful amothroic idiocy

The disease begins to progress at 6-14 years. Has a weak course, but in the end the diseased gets blindness, dementia, weakness of the muscles, possibly paralysis of the extremities. After living with this disease for several years, children die in a state of marasmus.

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, flows easily. There are mood swings, slurred speech, awkwardness, decreased intelligence, mental abnormalities, muscle weakness, seizures. The syndrome of Thea-Sachs in chronic form was discovered relatively recently, therefore it is impossible 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, does not yet have methods of treatment. Patients are prescribed maintenance therapy and thorough care. Usually drugs that are prescribed against seizures do not work. Since infants do not have a swallowing reflex and often have to feed them through a probe. Immunity of a sick child is very weak, so you have to treat co-morbid conditions. Usually, children die due to a viral infection.

Prevention of this disease is a couples survey aimed at identifying a mutation in the genes that characterizes the Tay-Sachs disease. If any, then the recommendation is not to try to have children.

If your child is sick

With home care, you need to learn how to do postural drainage and nasogastric aspiration. Feed the baby through the probe, also make sure that there are no bedsores on the skin.

If you have other healthy children, then you need to conduct their examination for the presence of a mutant gene.