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Tay-Sachs Disease



Tay-Sachs Disease Research

The current paper explores the examination, classification, symptoms, causes, diagnosis, analysis, and treatment of dependent personality disorder. The paper provides characteristic features and the development time of the disease explores consequences of disease progression at different ages and proposes steps of disease prevention for future parents. The list of common symptoms of the disorder is given. The paper explores the causes and prognosis of the disease, which is unfavorable and lethal if the disease has developed in the patient at an adult age. The means of treatment of the disease do not exist; the only things that can be done to reduce patients’ suffering are constant care and the use of medications that relieve the symptoms.

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Tay-Sachs disease is a heavy and rare inherited disease that often has unfavorable forecasts. It is transmitted from the parents to the child. The disease was first described in the late 19th century. It was named after the British ophthalmologist Warren Tay and American neurologist Bernard Sachs, who made considerable contributions to the study of disease. It turned out that the disease is characteristic of certain ethnic groups; most often it affects Ashkenazi Jews.

At a very early age, children with this disease become increasingly lag behind in development; its victims develop paralysis, dementia, blindness, and a cherry-red spot on the retina. These children usually die at the age of 3-4 years. Tay-Sachs disease can be detected in the fetus based on studies of placental cells or amniocentesis. There is no treatment for this disease.

Etiology and Epidemiology of the Disease

Tay-Sachs disease is a genetic disease that causes progressive deterioration of mental and physical abilities. The first symptoms usually appear around the age of 6 months. The disease is caused by a genetic defect of a specific gene. If a child was struck by Tay-Sachs disease, it means that it has inherited a copy of the defective gene from each parent. The disease manifests when a dangerous amount of ganglioside accumulates in the brain nerve cells, resulting in the premature death of these cells. Tay-Sachs disease is quite a rare disease in comparison with other recessive diseases, such as, for example, cystic fibrosis and sickle cell anemia, which are more common (Freedman, 2009).

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Studies of the disease, which have been conducted at the end of the 20th century, show that all cases of Tay-Sachs disease are caused by mutations in the HEXA gene. As of today, there is a huge amount of HEXA mutations, and new studies provide information on new mutations. These mutations are very common for specific ethnic groups. The number of carriers among French Canadians living in the southeast of Quebec is almost the same as among Ashkenazi Jews. However, mutations causing Tay-Sachs disease are different among these ethnic groups.

Many members of the Cajun ethnic group are carriers of the same mutations that are most common among Ashkenazi Jews. As already mentioned, these mutations are very rare and do not occur among other populations. That is, the disease can occur only by the inheritance of two independent mutations in the HEXA gene (Kelley, 2007).

There are the following theories that have been proposed for explaining the high prevalence rate of carriers of Tay-Sachs disease among Ashkenazi Jews:

  1. Advantages of heterozygotes over homozygotes. This theory argues that mutation carriers have a selective advantage in a particular environment when applied to a particular allele.
  2. Reproductive compensation. Parents whose child has died due to Tay-Sachs disease, as a rule, seek the “compensation”, the birth of other children to replace the child who has died. This can save the number and perhaps even lead to the frequency increase of an autosomal recessive disease.
  3. Founder effect. The theory argues that the high frequency of mutations is the result of a random genetic drift (change in frequency of a particular gene in the population), which amplifies the high frequency that has occurred randomly in the population (Freedman, 2009).

Classification and Symptoms

Tay-Sachs disease is classified by different forms, depending on the time of appearance of neurological symptoms. The form of the disease reflects the variant of the mutation.

Children from Tay-Sachs disease. During the first six months after birth, children are developing normally. However, there is a continuous impairment of the mental and physical skills of the patient after nerve cells start to accumulate gangliosides and are thus stretched. Muscles begin to atrophy, resulting in paralysis.

It is difficult to identify a disease from its very beginning due to hardly noticeable symptoms. They are usually manifested if the following happens.

  1. The child is poorly focused on the object and poorly reacts to light.
  2. The child painfully reacts to noise and is frightened of even an ordinary person’s voice.
  3. Changes in the eye retina.

The second point of disease symptoms manifestation is a reduced motor activity of the child from 6 months of age. It cannot sit, badly turns over, and also has walking problems. As a result, muscle atrophy and paralysis develop, which leads to the fact that the child cannot swallow on its own and cannot even breathe (Kelley, 2007).

Poor eyesight, hearing, and their loss subsequently lead to disability. The head becomes disproportionately large. Seizures are frequently observed between the first and second years of life. If the disease is manifested at an early age, the child usually dies before reaching 4-5 years. In another case, the disease can progress from 14 to 30 years. In adults, symptoms occur more easily (Freedman, 2009).

Adolescent form of the Tay-Sachs disease. It is extremely rare and usually manifests itself in children aged from 2 to 10 years. They have cognitive and motor problems, speech problems, swallowing problems, unsteadiness of gait, and spasticity. Patients with an adolescent form of Tay-Sachs disease usually die between the ages of 5 and 15 years.

The adult form of the Tay-Sachs disease. It is a rare form of the disorder, which does not have a lethal outcome. It is characterized by impaired gait and progressive deterioration of neurological functions. Symptoms of Tay-Sachs disease with late-onset develop during the period from the beginning of adolescence to 24-26 years. They are individual in every case depending on what amount of hexosaminidase A is produced in the body. Initially, the signs are clumsiness and minor mood swings and so parents do not pay attention to them. Additional symptoms may also include the following:

  • personality change;
  • muscle twitching and weakness;
  • slurred speech;
  • impaired ability to think and make decisions (memory problems, confusion);
  • loss of sense of reality (transient psychosis) or depression (Kelley, 2007).

Analysis, Diagnosis, and Course of the Tay-Sachs Disease

A presumptive diagnosis is made after examination by an ophthalmologist. When checking organs of vision, the specialist can usually detect cherry-red spots in the fundus, which is typical for this disease. Further, analysis on determining the amount of enzyme in the body fluids and tissues helps to confirm the assumption. A blood test and skin biopsy are necessary. If the analysis is positive, it confirms the diagnosis or carriage.

The course of the disease in all forms of intracellular lipidosis is characterized by malignancy, the combined nature damage to the nervous system, and other systems and organs. Along with common features that are inherent in the whole group of intracellular lipidosis, some signs are specific to individual forms. The first clinical features of Tay-Sachs disease are found at the end of the first six months of life when children fail to respond to the environment and lose acquired skills.

The phenomenon of hyperacusis is detected in patients in the form of sharp general motor reactions in response to auditory stimulation: a pat in the palm or the sudden knock on the door. A vision drops; the child ceases to fix the gaze on toys and shiny objects; blindness is subsequently developed. Early polymorphic convulsive spasms are usually detected in all patients with Tay-Sachs disease. Spasms often begin with facial muscle: twitching eyeballs and subsequently observed tonic-clonic convulsions of limbs (Freedman, 2009).

There is also a stop of gaze and salaam spasms. Spasms are usually expressed in a fairly symmetrical left and right half of the body and are resistant to the anticonvulsant therapy conducted. The feature of convulsive attacks in the advanced stage of the disease is the ease of their appearance under the influence of external stimuli: touching the child and a sharp knock among others. The duration of convulsive attacks increases and they become more frequent in the process of disease development. Sick children are distinguished by increased nutrition and plasticity. There are also hypersalivation, dry skin with hyperhidrosis of feet and palms, and hirsutism.

The diagnosis of Tay-Sachs disease in the advanced stage of the disease is not difficult. The diagnoses of encephalitis, effects of birth trauma, and pedophilia are made in the initial stages when children have convulsive attacks, decreased vision, high body temperature, frequent vomiting, and mental retardation.

Accounting for anamnestic data, the sequence of the symptoms of the disease is steady, and additional methods, especially ophthalmic and biochemical ones, are of paramount importance for diagnosis. The fundus examination provides some assistance in the diagnosis. In the advanced stage of the disease, a grayish-white and slightly prominent round center is marked in the macula. The thinning of the retina is degenerative and leads to the formation of a bright red spot in the center of the macula, which is caused by a translucent choroid. Biochemical research of lipids detects an increase of cholesterol and cerebrosides in blood plasma and a decrease of erythrocytes in the number of sphingomyelins (Freedman, 2009).

Amniocentesis allows determining the disease before birth; it is made with the help of analysis of amniotic fluid obtained by puncture of the amniotic sac. When a woman is pregnant and she has a risk of having a child with Tay-Sachs disease, she must necessarily go through the appropriate screening test for security. The blood sample is taken from the placenta during chorionic villus sampling. A screening test of this nature is also carried out to identify Tay-Sachs disease with late-onset in adolescents and adults with corresponding symptoms (Kelley, 2007).

It is important to know if one is a carrier of Tay-Sachs disease because this disease has an autosomal recessive mode of inheritance. Thus, the body has two genes. One of them produces an enzyme hexosaminidase A, while the other does not. This means that the norm is fulfilled only by half and it prevents the development of the disease. However, one can pass the affected gene by inheritance to the children. If two partners are carriers of Tay-Sachs disease, then the risk of a similar defect in their children increases to 1 in 4 (25%).

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When a couple is planning to have a child, the American Corporation of Obstetricians and Gynecologists recommends the following:

  • both partners need to undergo screening tests if they belong to categories such as Ashkenazi Jews, Cajun, French-Canadians, or if they have a family history of the disease. If the study shows positive results, subsequent decisions will help to make the passage of genetic counseling;
  • if at least one of the partners meets the above categories, he or she must also pass the test procedure. A positive result on a carrier of the disease also involves the examination of the other partner (Freedman, 2009).

The results of the studies of people belonging to the Ashkenazi Jews ethnic group are the following:

  • DNA test identifies 94 of 100 carriers;
  • test of the hexosaminidase A level determines 98 of 100 carriers.

Treatment of the Disease

The main treatment for Tay-Sachs disease is to control symptoms and ensure that child feels comfortable in everyday life, as a panacea for this disease does not exist for today. Even with the best care, children with children’s forms of the disease die before the age of 5 years, and the course of the adult form can only be slowed down. Although experimental work is carried out, medical treatment for the Tay-Sachs disease is unavailable. Patients receive palliative care to relieve the symptoms. Feeding tubes are used in case of infant form of the disease when babies can no longer swallow food. Improvement in palliative care allows to prolong the survival of children with the disease, but no therapy could stop or significantly delay the progression of the disease.

However, it will be helpful to undergo genetic counseling and attend therapy sessions, where one can find support and socialize with people who have a similar problem. If a person discovered a Tay-Sachs disease with late-onset, treatment is also based on the monitoring of symptoms. Depending on the symptoms, the patient can take certain medications, for example, those used for treating depression (Kelley, 2007).

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The news that a child has Tay-Sachs disease can plunge parents into shock. In this situation, besides child care, parents should not forget about their health. They should talk to their doctor on such topics:

  1. Parents’ feelings and help in taking care of the baby.
  2. Nearest support group in the family’s region.
  3. Genetic counseling for the whole family so that everyone accepts the child’s condition (Freedman, 2009).

Metabolic therapy for the treatment of the late form of the Tay-Sachs disease includes treatment by OGT 918 preparations (Walker, 2007).


Tay-Sachs disease is not treatable. The disease is characteristic for certain ethnic groups; most often it affects Ashkenazi Jews. Tay-Sachs disease is caused by mutations in the HEXA gene. The clinical picture usually evolves slowly gradually leading to the death of a child. The prognosis of the disease is unfavorable as the disease at first leads to disability, and then subsequently progresses to death. The life expectancy of patients primarily depends on the severity of symptoms. The only thing that patients can rely on is the relief of the symptoms.

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