People with Tay-Sachs syndrome have a rare genetic disorder. They regress slowly as di 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 comes from 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 third and seventh months of life. This fatal disease belongs to the group of hereditary metabolic diseases (gangliosidoses), also known as lysosomal storage diseases. Lysosomes are small cell organelles that have a variety of different functions in the human organism. Simply put, they act as organelles for “waste disposal.”
Causes
Lyososomes, in their capacity as small cell organelles, contain a large number of enzymes (hydrolases) that are responsible for an orderly degradation of carbohydrates, lipids, proteins (RNA, DNA), as well as defective cellular components. They serve as catalysts. They fulfill certain defense functions as they cooperate with the immune system and are responsible for the disposal of foreign pollutants and bacteria. If a child suffers from lysosomal storage disease, his or her 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 of the enzyme hexoseaminidase A. This enzyme is responsible for the conversion or excretion of certain substances. This enzyme is responsible for the conversion or degradation of sphingolipids, resulting in a pathological accumulation of lipids mainly in the brain. Sphingolipids form a group of lipids that are involved in the construction of cell membranes. The lipids consist of fatty acid combined (esterified) with the substance sphingosine (alcohol). These lipid accumulations cause neurons (nerve cells) to die. Tay-Sachs syndrome is therefore a neurodegenerative disease. The disease manifests early, with the first symptoms usually appearing by the third month of life. These include increasing muscle weakness, a cherry-red spot in the back of the eye (macula), psychomotor decline with loss of ability to sit and stand, startle reactions to sound stimuli, blindness and deafness, paresis, spasticity, convulsions, doll-like face with transparent skin, long eyelashes, and fine hair.
Symptoms, complaints and signs
Tay-Sachs syndrome is inherited in an autosomal recessive manner. Autosomal recessive inheritance means that a person only becomes ill if he or she carries two copies of the corresponding recessive gene. A person is called a carrier if he or she carries only one copy of the recessive gene. These carriers possess the pathological gene, but this does not lead to the onset of the disease. Since carriers show no symptoms and are just as healthy as other people, many of them do not know that they carry this gene. In many cases, the carrier does not come to light until prenatal diagnosis or when the child is diagnosed with Tay-Sachs syndrome based on symptoms. In the case of sexual reproduction, the gametes of a man and a woman unite in the form of sperm, egg and gametes. This results in two sets of chromosomes that are passed on from each parent. Each gene is present twice. How pronounced the genetic traits turn out in the child is determined equally by the mother and father. Both genes of a particular trait are located in the same place of the homologous chromosomes. If there is a genetic identity, the person of this gene is called homozygous (homozygous). If, on the other hand, the gene is present in two different variants (alleles), the person is called heterozygous (mixed). A dominant allele exists when one of the two alleles prevails over the other in the expression of the trait. The suppressed variant of the allele does not assert itself and takes a back seat to the dominant one. For this reason, it is referred to as recessive.The recessive allele (trait) appears only 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 the expression of the disease phenotype.
Diagnosis and course of the disease
Healthy carriers of this recessive gene can be diagnosed by blood testing. If both parents inherit a healthy gene and a diseased gene, there is a 25 percent chance that their child will have Tay-Sachs syndrome. An examination of the amniotic fluid can also provide information as to whether or not there is a risk. The condition causes changes in nerve tissue and multiple symptoms, loss of previously acquired abilities such as hearing, vision, speech, sitting and standing, and vomiting beginning at 16 months of age.
Complications
In most cases, Tay-Sachs syndrome results in the death of the patient. This cannot be prevented completely, but only slowed down. For this reason, parents and relatives in particular also suffer from severe psychological discomfort in this syndrome, which can also lead to depression. The affected children lose consciousness in this disease and continue to suffer from a comatose state. They are usually unresponsive and are in a deep sleep. Also, the child’s development is regressed due to the syndrome, so that the learned skills are lost again. Seizures or paralysis of the whole body may occur, so that the children are dependent on permanent treatment in their lives. Affected children often suffer from pneumonia and other respiratory problems due to Tay-Sachs syndrome. Although these can be treated, the syndrome significantly limits the life expectancy of those affected. Prevention of this disease is also not possible. In many cases, parents are dependent on psychological treatment.
When should one go to the doctor?
The affected person is dependent on a medical examination for Tay-Sachs syndrome. This is the only way to avoid further discomfort or complications, as this syndrome also cannot heal itself. If Tay-Sachs syndrome remains untreated or is discovered late, it can lead to the death of the affected person in the worst case. Therefore, a doctor should be contacted at the first symptoms of Tay-Sachs syndrome. The doctor should be consulted if the affected person suffers permanently from various inflammations. In most cases, the patient’s lungs are affected, so inflammation of the lungs is common. Even in small children, these complaints occur. Therefore, if inflammation of the lungs occurs very frequently, a doctor must be contacted. As a rule, Tay-Sachs syndrome can be detected by a pediatrician or by a general practitioner. However, despite treatment, there is a significantly reduced life expectancy of the affected person. Therefore, when Tay-Sachs syndrome occurs, parents and family members should consult a psychologist to avoid depression or other psychological upsets.
Treatment and therapy
Children with the disease usually die between the ages of one and four because of recurrent pneumonia. There are as yet 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 affected children is four years.
Prevention
Because the disease is inherited in an autosomal recessive manner, there is no prevention in the clinical sense. Medical researchers are investigating the molecular biological and biochemical causes of this disease in order to find a therapeutic option in the future after all.
Follow-up
To date, Tay-Sachs syndrome can only be treated symptomatically. Follow-up care focuses on the individual symptoms and psychological support for the patient’s relatives and the patient. Psychomotor decline must be strictly controlled. In the first years of the disease, the muscular complaints can be partially counteracted by physiotherapy. Patients always require drug treatment as well. The administration of medications is assessed during follow-up care. Since the disease is progressive, regular adjustment of medication is necessary.In the final stages of the disease, the patient can be transferred to a hospice. Psychological care for the relatives follows on from this and usually involves several discussions with a suitable therapist. The extent of psychological aftercare is individualized from case to case. Tay-Sachs syndrome is always fatal, which is why patients must be informed about their prospects for recovery at an early stage. The diseased persons usually also need support in everyday life. During follow-up care, measures can be reviewed 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 primary care physician and various specialists.
What you can do yourself
Tay-Sachs syndrome can only be treated symptomatically to date. It is necessary to counteract the increasing muscle weakness with physiotherapy and physical therapy. The psychomotor degradation must be compensated in the long term by aids such as crutches, wheelchairs, stair lifts and handicapped access. When symptoms such as hearing loss or blindness appear, the child needs permanent support. As the disease progresses rapidly and leads to the death of the child by the third or fourth year of life, further measures may need to be taken to support the parents during the child’s illness phase and later during the mourning period. In the last months of life, the most important measure is to allow the child to live as symptom-free as possible. In addition, continued treatment of symptoms is always necessary. After the death of the child, trauma therapy may be useful. To cope with the grief, a visit to a self-help group or therapeutic treatment is recommended. If necessary, medication such as tranquilizers or antidepressants must also be taken, and their intake should be monitored by a doctor. The association “Hand in Hand against Tay-Sachs” provides those affected with further points of contact and tips for dealing with Tay-Sachs syndrome.
