The rare and dangerous disease of Thea-Saks - when genes kill

The disease of Thea-Sachs has several names: infantile gangliosidosis or early childhood idiocy amavrotic.

This disease belongs to the hereditary diseases of the nervous system and is rare.

The disease was named after two doctors who discovered it: Warren Thea( an ophthalmologist from Britain) and Bernard Sachs( a neurologist from America).

Age-related disease development

There are three forms of the disease: the

• pediatric form of , an amaurotic family idiot, in which the babies, 6 months after the birthThere is a sharp deterioration in physical and mental health( rapid development of blindness, deafness, the child loses the ability to swallow);
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• adolescent form of , in which there is also a violation of swallowing, severe speech disorders, there is instability in the gait, there are paralysis;
• is an adult form of , which develops between the ages of 25 and 30 years. To the above symptoms is added schizophrenia, taking the form of psychosis.

Causes of

Disease The causes of are found in disorders at the genetic level of that occur in the exchange of gangliosides. These special lipids, exceeding 300 times the norm, are concentrated in the gray matter of the brain.

Also accumulation occurs in the liver and spleen. At the heart of the disease is a lack of one of the types of enzymes that affect lipid metabolism( hexosaminidase A).

The disease occurs in the ratio: 1 to 250 000. This is mainly caused by the population of ethnic groups, for example, the French, whose place of residence is Canada.

The Jews of Eastern Europe are also exposed to the disease, whose incidence is higher - 1 per 4000 people.

This disease develops in the case of a baby who has received two genes with a defect, that is, the disease is inherited by an autosomal recessive type. What does it mean?

The child inherits the genes from the dad and from the mother in the same amount. If one or both of the chromosomes from the pair are affected, then a genetic disease is reported. In people who have Tay-Sachs disease, both chromosomes in the pair turn out to be defective.

This disorder is called a disease with an autosomal recessive form of inheritance. If a defective gene is found in one of the parents, the baby will be healthy, but with 50% probability will be a carrier, which puts the health of his heirs in the future. In the presence of a gene with a defect in both parents, there are three possible variants of the development of events.

Risk factors

The driving force for the development of this disease is the gradual accumulation in the nervous system of gangliosides - substances that affect the normal vital activity of the cells of the nervous system.

All sick children have a damaged gene responsible for the complete synthesis of hexosaminidase enzymes.

A child's body with a congenital disease can not continuously process fatty substances, so they accumulate, and then deposited in the brain.

This leads to the fact that the activity of nerve cells is blocked and severe consequences for the whole organism occur. In the body of a healthy child, gangliosides are constantly synthesized and split.

The main symptoms of

Pathology is diagnosed in toddlers at the age of about six months, since up to four to five months the baby develops quite normally, like all children of this age.

The initial stage of

The first symptoms of Tay Sachs' illness are that the child loses contact with the world around him, his gaze is constantly concentrated in one direction, the kid does not want anything, he becomes apathetic, he does not react to objects, sounds, familiar faces.

Increased reaction to it occurs solely on loud and sharp sounds. Even when the baby looks quite healthy, parents and relatives often notice that the child jerks suddenly with the whole body with loud auditory irritations.

Complex of disorders manifested by increased fatigue, sleep disturbance, mood instability is called one term - asthenia.

Serious disorders of the nervous system are caused by Friedreich's hereditary ataxia - the causes, symptoms and treatment of pathology.

The development of the disease

The second stage of the disease is the regress in the development of the child: the acquired skills are lost, he refuses to crawl, sit, becomes passive, toys do not cause any interest, there is a delay in mental development, while the size of the head increases significantly, the baby begins to lose sight, and oftenand hearing.

At a late stage between the first year of life and the second, the baby is most likely to develop seizures that appear as seizures and paralysis.

Kids do not gain weight, but quickly lose it. With this development of the disease, the child rarely survives to the age of five.

Signs of the disease in adults

Adult form is very rare and occurs in patients aged 20 to 30 years. It usually has no lethal outcome.

The disease manifests itself in abnormal gait and the rapid deterioration of neurological functions. With such a disease, an adult can live after a diagnosis of 10 to 15 years.

Diagnosis of the disease

Before determining the diagnosis, the doctor examines the results of the research, questions the parents in detail about the clinical manifestations, finds out whether the cases of this disease have occurred in the genus.

The doctor will definitely send for examination to the ophthalmologist, since a typical manifestation of the disease is the location on the retina of the red spot, which can be determined with the help of an ophthalmoscope.

There are also changes in the nipple of the optic nerve: it atrophies.

It is impossible to cure, support - it is necessary

Treatment of Teya-Sachs disease should be started before the beginning of neurological signs. Use a blood transfusion, plasma.

Drugs and specific methods that cure the disease of Thea-Saks, no.

The latter are often ineffective against seizures that occur with this disease. Medical assistance consists in simply alleviating the symptoms of the manifestation of the disease, but if it is a late form, then the delay in the development of the disease.

The prognosis for this disease is unfavorable.

Prevention of the disease

For the prevention of disease, spouses who want to have children must be examined for the presence of the gene for this disease , if at least one of the spouses had cases of Tay-Sachs disease.

Research is strongly recommended before pre-planned pregnancy to identify the risk of an unhealthy baby.

If such a gene is found in both spouses, they are categorically not recommended to conceive children. It happens that during the survey a woman already wears a baby, then a special procedure is set up to identify the defective gene in the child - amniocentesis .

To this end, amniotic fluid obtained by taking a puncture of the amniotic membrane is subjected to a laboratory test. If a defective gene is found, pregnancy should be interrupted.

If future parents have accurate information that they are carriers of a defective gene, and pregnancy has already occurred, then it is necessary to undergo a screening test at the twelfth week.

For the study, physicians take blood from the placenta to find out whether the future baby has inherited the mutant genes.

Future parents need to take responsibility for their own health and the health of their future children and comply with all the recommendations of doctors.

Prenatal diagnosis at every pregnancy enables a married couple to give life to healthy children.