Thea-Sachs disease

Teya-Sachs disease is a serious hereditary disease characterized by progressive motor disorders and mental retardation due to damage to the child's cerebral membranes. During the first six months of life, the development of children with Tay-Sachs disease is completely normal, after which the brain functions are violated and in most cases the children do not survive to five years.

For the first time this disease was described in detail in the late nineteenth century by American neurologist Bernard Sachs and British ophthalmologist Warren Teem, who made an invaluable contribution to the study of this disease. Incidence rate - 1 case per 250 000 population

Tay-Sachs disease - causes of

Teya-Sachs disease is a fairly rare disease, and it is predominantly affected by certain ethnic groups. Most often this disease affects the French population of Canadian Quebec and Louisiana, as well as the Jews of Eastern Europe. In Ashkenazi Jews, this pathology is observed in 1 in 4,000 newborns.

Teya-Sachs disease is inherited by autosomal recessive type. This suggests that only a child can become ill, having inherited two defective genes - the first from the mother and the other from the father. In the case of a defective gene in only one of the biological parents, the child will not get sick, but with 50% probability will become the bearer of the defective gene, thus exposing his future offspring to risk.

What can happen if a defective gene has both parents:

- With probability of 25%, the child will not bear the gene and will be born healthy

- With probability 50% the child will bear the gene and will be born healthy

- With a probability of 25%Will inherit two affected genes and will be born with the disease of Thea-Saks

The mechanism of this pathology development is the accumulation in the nervous system of gangliosides - substances responsible for normal vital activity of nerve cells. Gangliosides in a healthy body are constantly synthesized and, accordingly, are constantly broken down, and enzyme systems are responsible for maintaining a fine balance between synthesis and decay. Sick babies have a damaged gene responsible for the synthesis of the enzyme hexosaminidase type A. The organism of children with a congenital deficiency of this enzyme is not able to constantly break down quickly formed and accumulating fatty substances - gangliosides, which are deposited in the brain, block the work of nerve cells, which leads to very heavySymptoms of

Teya-Sachs disease - symptoms of

Usually, the disease of Thea-Sachs affects children of about six months of age. At the beginning of the development of the disease, the child is lost contact with the outside world, he has a pointing look pointed at one point, he becomes apathetic and reacts solely to a loud sound. After that, the child loses the acquired skills( for example - ceases to crawl), lingers in mental development, and after a while becomes blind. Muscular functions( the ability to eat, drink, move, pronounce sounds, etc.) are significantly reduced, sometimes up to their total loss, a disproportionately large head becomes. Seizures may occur in the late stages of the course of the disease( usually between 1 and 2 years of life).In most cases, the child dies before reaching the age of five.

Separation of symptoms by age:

- 3 to 6 months: the child has difficulty concentrating on the subject, visual perception worsens, eyes twitching, unreasonable reproduction of loud enough sounds

- 6 to 10Months: the baby has hypotonia( decreased muscle tone), it becomes less active, the hearing and vision deteriorates, the head increases noticeably in size( macrocephaly), the dullness is dulledtion skills, the child is difficult to roll over and sit

- After 10 months: it becomes apparent mental retardation, blindness develops, paralysis, there are breathing difficulties, swallowing difficulties, seizures

Clinical variants of Tay-Sachs:

- Chronic deficiency of hexosaminidase( type A).Symptomatic of this disease can develop both at the age of 3 -5 years, and at the age of thirty. The disease progresses relatively easily: the patients may slightly break their speech( becomes vague), minor motor skills, coordination and gait suffer;Can be observed muscle spasms, mental disorders and decreased intelligence. The majority of patients noticeably worsen hearing and vision. Due to the fact that this form of Tay-Sachs disease has been discovered quite recently, a long-term prognosis of the further life of such patients is controversial. With a high degree of probability, it can be argued that the disease gradually leads to disability and subsequent death.

- Juvenile deficiency of hexosaminidase( type A).The symptomatology of this disease develops in the age interval from 2 to 5 years. Despite the fact that this form of the disease progresses much slower than its classical variant, the death of the child nevertheless inevitably begins at the age of about 15 years.

Diagnosis of the disease of the Tay-Saks

The assumption of the presence of the child of this disease occurs when, as a result of the examinationBaby ophthalmologist( ophthalmoscopy), on the fundus there is a cherry-red spot. This area on the retina indicates that it is in this place in the ganglion cells of the retina that an increased accumulation of gangliosides is observed. After this observation, the doctor prescribes the following types of studies: microscopic analysis of neurons, screening, deployed blood tests

Teya-Sachs disease - treatment of

Unfortunately, Thea-Sachs disease does not heal. Even in the case of the best care, almost all children with childhood forms of the disease survive a maximum of five years. Throughout life, to facilitate the present symptomatology, patients receive palliative care( feeding through a probe with the inclusion of nutritional supplements, careful skin care, etc.).Anticonvulsants are most often powerless against seizures.

Prevention of this disease consists in the mandatory examination of couples for the presence of a gene for Tay-Sachs disease. In the event that both spouses have such a gene found, they are advised not to have children. If, at the time of the diagnosis of the gene, a woman is already pregnant, an amniocentesis can be performed to identify defective genes in the fetus.