TAY-SACHS

Tay-Sachs

Table of Content

Introduction1

Treatment for the Disease1

Medication2

Respiratory Care3

Feeding tubes3

Family support3

Follow-up care and coordination4

How the disease is diagnosed4

Screening4

Mutation analysis techniques5

Screening success with Ashkenazi Jews5

Enzyme Assay Techniques6

Major organ system effected7

Medicine and fight with diseases7

Tay-Sach

Introduction

Tay-sachs is the disorder which is caused by the fatal genetic storage of lipid, which contains the harmful quantities of a fatty stuff, which is commonly called as G M2 which is build up in the tissues and nerve cells of the brain. The particular disorder caused by the inadequate bustle of the enzyme called as Beta Hexosaminidase. It catalyzes the biodegraded rapidly in early life as the brain develops.

Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.

Treatment for the Disease

To get confirm about the health of the baby, is she suffering from Tay-sachs or not. The clinic doctor asks about the symptoms which are observed in the child, along with the symptoms doctor use to ask about the family disorders, and heredity and other blood test which are helpful to take a final decision about the symptoms of the child to decision about the disease found in the child (Neudorfer, 2004).

This discusses the Tay-Sachs disease, some of its types and its effects. The GM2-gangliosidosis is a collection of neurological chaos ensuing from genetically malfunctioning catabolism, and resulting irregular growth, of GM2-ganglioside. The three major types are distinguished as the B variant (Tay-Sachs disease), the O variant (Sandhoff disease), and the AB variant, caused by genetic abnormalities in the genes coding for the beta-hexosaminidase alpha- or beta-subunit, or the GM2-activator protein, respectively. The above is an important one for all the readers who have a keen interest in fighting the Tay-Sachs disease. The article entails a detail explanation right from the birth till the death of the young girl named Maigon Nicole, who died after suffering from this dangerous disease. The young girl, who was the only daughter of Reene and David, died at 3 because of this untreatable genetic disorder. The death of little girl was a shocked for the entire medical science as they were not able to cure this inherent diseases and compelled the medical and genetic experts of that time to come up with the action plans which provide solution to reduce the impacts of this incurable disease.

This is found that there is no such cure of the Tay sachs` disorder, the main goal of treating this disorder is to support, and comfort. There are some of the ways by which the clinic doctors` team work on the patient if they found the patient to be suffer from Tay-sachs disorder.

Following are the available treatments which can lower down the intemnsity of the tay-Sachs disorder:

Medication

There are many available prescribed medications which are quite helpful to reduce the seriousness of the Tay-Sachs. Such medications are bringing day by day improvement in the process of ...