About Taysachs Disease
Introduction
Taysachs disease is a rare disease which is caused by genetic disorder. It causes deterioration of the patients physical and mental capabilities which commence as early as when the child is 6 months old. The result is death at the age of 4. The genetic disorder is normally inherited from the parents of the patient. Occurrence of the disease starts when harmful amounts of the cell membrane accumulate in the brain’s nerve cells. This later leads to the affected cells dying prematurely.
History of Taysachs Disease
Between 1860 and 1870, the germ theory of disease was developed and accepted. There was a possibility that science could be able to prevent, cure or even explain about diseases made doctors to undertake the necessary diagnosis and prescription of disease. Bernard Sachs and Waren Tay provided different diagnosis for disease in order to separate themselves from similar symptoms seen in neurological disorders. They both reported this case to their Jewish families. By 1884, Tay had identified 3 cases in one family. Sachs on the other hand had seen the same and reported to the New York Neurological society. After recognizing that this disease had basis that was familial, Sachs suggested that it be named Amaurtic Familial Idiocy. Despite Gregory Mendel having published an article on genetics of peas back in 1865, the genetic basis of this disease was still not understood fully.
Between 1909 and 1906, 12 volumes of the first edition of the Jewish’s encyclopedia was published. At first, the disease was thought to occur only in the Jewish families but then it occurred in the citizens of the United States. Recent reports however show that the disease is also occurring in non-Jewish children. The symptoms of the disease being: paralysis and weakness, physical enfeeblement and marasmus. When the symptoms were investigated, neither syphilitic nor consanguinity, nervous antecedents or alcoholism was found to be the cause. All these cases were terminated fatally since there were no preventive measures or even treatment had any benefit.
During World War 1, the Jews migrated to the United States. The Jews were therefore said to be the ones who brought the disease to the United States. They were even forbidden entry in to the U.S.
John S. O’Brien however showed that taysachs disease was being caused by a defect in an enzyme. This was in the year 1969. He even proved diagnosis of taysachs disease. In 1970’s; the researchers began developing new protocols which entailed that newborns be tested. Also, pre-natal diagnosis was to be done and screening of carriers. By the end of this period, the researchers had already come up with 3 forms of GM2 which accounted for negative results in the carriers.
Symptoms of Taysachs Disease
The following are the main symptoms of taysachs disease
- Less eye contact
- Not being alert and playful.
- Seizures.
- Deteriorating physical and mental capabilities.
- Spasticity
- Ataxia
- Dysphagia
- Dysarthria
- Deterioration in motor and cognitive skills.
- Unsteady gait
- Deterioration of neurology
- Swallowing difficulties
- Speech difficulties
- Psychiatric illness
Conclusion
There is no specific treatment for Taysachs. Even when given the best care, children who suffer from the disease die at the age of 4. Patients can only receive supportive care to subsidize the symptoms while experiments on treatment are still being carried out. However, both parents should be screened to know if they are carriers. Also, healthy embryos can be transferred to the mother’s womb.
