Tay-Sachs Disease

There are many diseases in the world that can have severe negative impacts on a person and their family. Many neurodegenerative diseases are caused by genetic mutations. This essay will be discussing the similarities and differences between the diseases of Tay-Sachs, Alzheimer’s, Parkinson’s and Fragile X as well as their symptoms, treatments and intervention strategy’s.

Tay Sachs can only be inherited, which means it is passed from parents to child only. The process begins in the fetus, very early in pregnancy. However, the disease does not become physically apparent until the child is several months old. Tay Sachs is caused by the absence of a vital enzyme, called the Hex A gene, which is in chromosome 15. This gene plays an important role in the nervous system. It breaks down the fatty substance called

The cell is the basic unit of life in eukaryotic organisms. The inside of the cell is comprised of multiple subunits called organelle that all function together to maintain homeostasis and function. Each individual organelle is assigned a specific task and purpose for the cell. These tasks and purposes can range from structural support all the way to the disposal of malfunctioning organelle.1 Similarity to a machine, if one part stops functioning to full potential, serious if not fatal consequences can be faced. A shining example of the effects of a malfunctioning organelle occurs in Tay-Sachs disease. Tay- Sachs disease is a lysosomal disorder that is caused by a faulty lysosome.1 Recent studies and research have been investigating the causes and pathways Tay-Sachs disease with great success, which is amazing news for the scientific community.

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

There are no treatments or cures for Tay-Sachs disease; however, through palliative care,  treatment is used to keep the child comfortable. Palliative care often includes prescription medication to relieve symptoms, the use of feeding tubes, physical therapy, and respiratory care to avoid issues with the lungs and airways.

It has come to my attention that you believe Tay-Sachs disease is less devastating than ALD. To make an assumption does not do you justice and I am here to inform you on each of these demyelinating diseases so you can understand why in fact Tay-Sachs disease is in fact more devastating than ALD

Tay Sachs Disease, or TSD, is a fatal genetic disorder that result in the degeneration of the nervous system. TSD is presented in three forms, those being classic infantile, juvenile and adult late-onset. The most commonly seen form of TSD is that of classic infantile Tay Sachs Disease. In the classic infantile form, infants generally experience their first symptoms by 6 months of age. Death of infants with TSD is typically by age 5. The symptoms that TSD infants will experience prior to death include: an onset of retardation, paralysis, dementia, blindness and reoccurring seizures. The absence of hexosaminidase-A, or what we will refer to as Hex-A, is the cause

Tay Sachs Disease is an inherited disease that results in slow destruction of the central nervous system and sensory systems, which is caused by a mutation resulting in a deficiency of a lysosomal enzyme. The missing enzyme, hexosaminidase A, functions in breaking down the fatty material ganglioside GM2, a chemical found in nerve tissue. Without this enzyme, lipids accumulate in the brain cells and destroy them, resulting in damaged nerve cells, neurological problems, and eventually leading to death several years after birth. The disease was first discovered by Waren Tay, a British ophthalmologist in 1881. Tay-Sachs disease is very rare in the general population and is relatively common among certain ethnic groups such as Eastern Europeans

Some of the general symptoms of the disease can be characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, and possibility of visual impairment. Muscle weakness, clasping of the limbs, and myoclonic twitches of the head that can be onset late in the disease. Research of the GM2 ganglioside has revealed that storage of the fatty substance varies a large

The term ganglioside lipid was thought of because of the high abundance of the brain lipid in normal ganglion cell, a type of brain cell. Other names Tay Sachs disease is known by are B variant GM2 gangliosidosis, GM2 gangliosidosis, type 1, HexA deficiency, Hexosaminidase alpha-subunit deficiency, (variant B), Sphingolipidosis (Genetics Home Reference, 2017). Tay Sachs disease is diagnosed by prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis, can diagnose Tay Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease. CVS is performed between 10 and 12 weeks of pregnancy and involves taking a sample of cells from the placenta via the vagina or abdomen. Amniocentesis is done between 15 and 20 weeks of pregnancy and involves extracting a sample of the fluid surrounding the fetus using a needle through the mother’s abdomen (Herndon, 2016). If a child is displaying symptoms of Tay Sachs disease, doctors and get a family history, do blood work, tissue sample or do an eye exam to see if the child has a red spot near the

Well what causes Tay Sachs disease is that there’s something wrong with there fifteenth chromosome with this problem your body has trouble making the protein hexosaminidase A, since your body doesn’t make that anymore gangliosides build up and eventually will kill brain cells. In order for your child to get this disease the defective gene has to be passed down from each parent so that would mean that Tay Sachs disease is a heredity disease. If the defective gene just gets passed down from one parent it means that the child is a carrier of Tay sachs disease, in which this means that if this child marries someone who is also a carrier of Tay Sachs disease that means that there child will absolutely have this disease

Tay Sachs is a genetic disorder that occurs when there is a missing enzyme in the body. This causes a buildup of fatty substances in the nervous system (Gale). Beta-Hemosaminidase, or HexA, is the missing enzyme that causes the various nerve disorders that happen within Tay Sachs (NTSAD). This disease is inherited in a few different areas of the world, but it is most commonly

The genetic mutations that cause this disease are more commonly found in the Ashkenazi people with a Jewish heritage than those with other backgrounds. French-Canadian communities of Quebec, the Old Order amish community in Pennsylvania, and the Cajun population of Louisiana, are more responsible for the mutation for this disease. The HEXA has been discovered for the cause of Tay Sachs. The gene provides for making part of an enzyme, which is cause, "beta-hexosaminidase A", which plays an important role in the spinal cord and brain. Disruptions in the HEXA gene messes with the activity of beta-hexosaminidase A, and then prevents the enzyme from breaking down GM2 ganglioside. This results the the substance accumulating to toxic levels in the neurons in the brain and spinal cord. Continuous damage caused by the build up of GM2-ganglioside leads to the destruction of the neurons and thus causes the signs and symptoms of Tay-Sachs

The members will be a physician, a geneticist, an ethicist, a lawyer and a nurse. The physician, who is a pediatrician, makes the diagnosis of Tay Sachs. The geneticist, another specialist, provides more specific and applicable information on Tay-Sachs, such as causes and risks, prevention, diagnosis and treatment. These two specialists formulate a plan of care, which a nurse will implement. The ethicist informs them about accepted moral values and the proper human conduct, behavior and decisions in dealing with Tay-Sachs. The lawyer or legal practitioner informs the involved parties about the current laws and court decisions concerning or affecting the management of genetic disorders, such as Tay-Sachs. And the nurse carries out the detailed instructions of the geneticist and pediatrician as well as incorporates the guidelines inputted by the lawyer.

Known disease-associated mutations were retrieved from The Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php). The benign polymorphisms were retrieved from the NCBI dbSNP (http://www.ncbi.nlm.nih.gov/snp/) and previous literature. A variety of genes responsible for different lysosomal diseases were analyzed in this study and listed here. IDUA, mucopolysaccharidosis type I (MPS I); IDS, MPS II; GLB1, GM1 gangliosidosis or Morquio disease, type B (MDB); HEXA, Tay-Sachs disease; HEXB, Sandhoff disease; GBA, Gaucher disease; CTNS, cystinosis; GAA, Pompe disease; GUSB, MPS VII; SGSH, MPS IIIA; LIPA, lysosomal acid lipase deficiency.