Tay-Sachs Syndrome

By | June 10, 2022

People with Tay-Sachs syndrome have a rare genetic disorder. They slowly regress as the disease leads to a comatose state accompanied by loss of acquired skills, seizures, and paralysis. In the final stages, patients lose consciousness and die.

What is Tay-Sachs Syndrome?

Children born with Tay-Sachs Syndrome have no future because this disease is incurable and invariably fatal. The name for this disease goes back to the American neurologist Bernhard Sachs (1858 to 1944) and the British ophthalmologist Warren Tay (1853 to 1927), who first described this hereditary fat storage disease. It occurs in childhood between the ages of three and seven months. For what does internet addiction stand for, please visit ezhoushan.net.

This fatal disease belongs to the group of hereditary metabolic diseases (gangliosidosis), which are also known as lysosomal storage diseases. Lysosomes are small cell organelles that perform a variety of different tasks in the human organism. Put simply, they act as organelles for “waste disposal”.


In their capacity as small cell organelles, lyososomes contain a large number of enzymes (hydrolases) that are responsible for the orderly breakdown of carbohydrates, lipids, proteins (RNA, DNA) and defective cell components. They serve as a catalyst. They fulfill certain defense functions because they work together with the immune system and are responsible for the disposal of exogenous pollutants and bacteria.

If a child suffers from the lysosomal storage disease, its organism does not process certain substances as intended due to an enzyme deficiency. These are deposited in the lysosomes instead of being processed and excreted. Children with Tay-Sachs syndrome suffer from a deficiency in the enzyme hexoseaminidase A. This is responsible for the conversion or breakdown of sphingolipids, which results in an abnormal accumulation of lipids, mainly in the brain.

Sphingolipids form a group of lipids involved in the construction of cell membranes. The lipids consist of fatty acids combined (esterified) with the substance sphingosine (alcohol). These accumulations of fat cause neurons (nerve cells) to die. Tay-Sachs syndrome is therefore a neurodegenerative disease. The disease manifests itself early, the first symptoms usually appear from the third month of life.

These include increasing muscle weakness, a cherry-red spot in the back of the eye (macula), psychomotor degradation with loss of ability to sit and stand, startle reactions to sound stimuli, blindness and deafness, paresis, spasticity, cramps, doll-like face with transparent skin, long eyelashes and fine Hair.

Symptoms, Ailments & Signs

Tay-Sachs syndrome is inherited in an autosomal recessive manner. Autosomal recessive inheritance means that a person will only develop the disease if they carry two copies of the corresponding recessive gene. A person is called a carrier if they only have one copy of the recessive gene. Although these carriers have the pathological gene, this does not lead to the onset of the disease.

Because carriers have no symptoms and are just as healthy as other people, many of them are unaware that they carry the gene. In many cases, this sponsorship only comes to light during prenatal diagnostics or when the child is diagnosed with Tay-Sachs syndrome due to the symptoms. In the case of sexual reproduction, the gametes of man and woman unite in the form of sperm, egg and sex cells. This creates two sets of chromosomes that are passed on from each parent.

Each gene is present twice. How pronounced the genetic characteristics are in the child is determined equally by the mother and father. Both genes of a particular trait are located at the same place on the homologous chromosomes. If there is a genetic identity, the person of this gene is referred to as homozygous (purely inherited). If, on the other hand, the gene is present in two different variants (alleles), the person is referred to as heterozygous (mixed genetics). A dominant allele is present when one of the two alleles prevails over the other in the characteristic expression.

The suppressed variant of the allele does not prevail and recedes in comparison to the dominant one. For this reason it is called recessive. The recessive allele (trait) only appears in the case of pure inheritance, in the homozygous state. In the case of a recessive disease, both allelic variants of the corresponding gene are mutated. This mutation leads to expression of the disease phenotype.

Diagnosis & course of disease

Healthy carriers of this recessive gene can be diagnosed by blood testing. If both parents inherit a healthy and a diseased gene, there is a 25 percent chance that their child will develop Tay-Sachs syndrome.

An examination of the amniotic fluid can also provide information about whether there is a risk or not. The disease leads to a change in nerve tissue and multiple complaints, the loss of previously acquired skills such as hearing, seeing, speaking, sitting and standing, and vomiting from the 16th month of life.


In most cases, Tay-Sachs syndrome leads to death of the patient. This cannot be prevented completely, but only slowed down. For this reason, it is primarily the parents and relatives who suffer from this syndrome that suffer from severe psychological problems, which can also lead to depression.

Affected children lose consciousness with this disease and continue to suffer from a comatose state. They are usually not responsive and are in a deep sleep. The development of the child also slows down due to the syndrome, so that the acquired ability is lost again. This can lead to seizures or paralysis all over the body, so that the children are dependent on permanent treatment throughout their lives.

The affected children often suffer from pneumonia and other respiratory problems due to Tay-Sachs syndrome. Although these can be treated, the syndrome significantly reduces the life expectancy of those affected. It is also not possible to prevent this disease. In many cases, the parents are dependent on psychological treatment.

When should you go to the doctor?

In Tay-Sachs syndrome, the affected person is dependent on a medical examination. This is the only way to avoid further complaints or complications, since this syndrome cannot heal itself. If Tay-Sachs syndrome is left untreated or discovered late, the worst-case scenario can be the death of the person affected. Therefore, a doctor should be contacted as soon as the first symptoms of Tay-Sachs syndrome appear. The doctor should be consulted if the person concerned suffers from various inflammations over the long term. In most cases, the patient’s lungs are affected, which often leads to inflammation of the lungs. These symptoms occur even in young children. If inflammation of the lungs occurs very frequently, a doctor must be contacted.

Tay-Sachs syndrome can usually be diagnosed by a pediatrician or general practitioner. However, despite treatment, the life expectancy of those affected is significantly reduced. Therefore, parents and relatives with Tay-Sachs syndrome should consult a psychologist so that depression or other mental upsets do not occur.

Treatment & Therapy

The sick children usually die between the ages of one and four due to recurrent pneumonia. So far there are no treatment options in the sense that the sick children can be cured. They become noticeable during the first year of life, after which the disease progresses inexorably. The life expectancy of the affected children is four years.


Since the disease is inherited in an autosomal recessive manner, there is no clinical prevention. Medicine is researching the molecular biological and biochemical causes of this disease in order to find a therapy option in the future.


To date, Tay-Sachs syndrome can only be treated symptomatically. The aftercare focuses on the individual complaints and psychological care for the relatives and the patient. Psychomotor degradation must be strictly controlled. In the first years of the disease, the muscular complaints can be partially counteracted by physiotherapy.

Patients always need medication. The administration of drugs is checked as part of the aftercare. Because the disease is progressive, regular adjustments in medication are necessary. In the last stages of the disease, the patient can be transferred to a hospice.

The psychological care of the relatives follows and usually includes several discussions with a suitable therapist. The extent of the psychological aftercare varies from case to case. Tay-Sachs syndrome is always fatal, so patients need to be informed early about their chances of recovery.

The sick people usually also need support in everyday life. As part of the aftercare, the measures can be checked and adjusted if necessary. Here, too, regular reassessment is necessary due to the progressive progression of the disease. Follow-up care is usually provided by the family doctor and various specialists.

You can do that yourself

To date, Tay-Sachs syndrome can only be treated symptomatically. It is important to counteract the increasing muscle weakness through physiotherapy and physiotherapy. The psychomotor decline must be compensated for in the long term by aids such as crutches, wheelchairs, stair lifts and access for the disabled. When symptoms such as hearing loss or blindness appear, the child needs ongoing support.

Since the disease progresses rapidly and leads to the death of the child by the age of three or four, additional measures may need to be taken to support the parents during the child’s illness and later during the bereavement phase. In the last months of life, the most important measure is to enable the child to live as symptom-free as possible. In addition, it is always necessary to continue treating the symptoms.

After the death of the child, trauma therapy can be useful. A visit to a self-help group or therapeutic treatment is a good way to cope with grief. If necessary, medication such as sedatives or antidepressants must also be taken, the intake of which should be monitored by a doctor. The association “Hand in Hand against Tay-Sachs” provides those affected with further contact points and tips for dealing with Tay-Sachs syndrome.

Tay-Sachs Syndrome