In order for Tay-Sachs disease to be relevant the Hexosaminidase-A (Hex-A) enzyme is either defective or absent. This enzyme is needed to survive because it helps breakdown specific substances such as fats. The massive build-up of lipids called gangliosides affect the central nervous system, which eventually starts to destroy the cell and damages the tissue around it. Most people working in the medical field would define that occurrence as an “abnormal storage”. In order for the child to inherit this disease, both parents must be carriers. However, statistically it is stated there is only a 25 percent chance of the child to be affected if both parents are carriers. The child also has a 50 percent chance of becoming a carrier
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.
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.
Cherry red spot” in the eyes Infant with Tay Sachs Disease If two parents are carriers for
Warren Tay who was a British ophthalmologist physician, he noticed a cherry red spot in the retina of a one year old child who was suffering from mental and physical retardation. Bernard Sachs who was an American neurologist noticed an extreme swelling of neurons in autopsy tissue from affected children. He also founded that the disease comes from the families who is Jewish origin. Both physicians were describing the same disease, but it was not until the 1930s that the material causing the cherry-red spot and neuronal swelling was identified as a ganglioside lipid and the disease could be recognized as an "inborn error of metabolism." The term "ganglioside" was coined because of the high abundance of the brain lipid in normal ganglion cells
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 is genetically passed disease from parents that both have the defective gene on chromosome 15 (HEX-A). This defective gene prevents the body from producing a protein called hexosaminidase. Without the hexosaminidase protein a chemical called ganglioside will build up in the nerve cells located in the child’s brain. This build up will eventually destroy the brain cells and eventually lead to death. I would explain that both parents must be carriers of the defective gene for the disease to occur and be passed onto their child. I would further explain that for them (the affected child’s parents) to be carrying the defective gene one of their parent had to be a carrier themselves. I would share the Jewish descent from central or eastern Europe as historically being the geographical origin of the disease. I would explain some of the symptoms associated with the disease and what to look for as the disease progresses. Observed symptoms of Tay-Sachs disease in infants that can start at 3 to 6 months of age can be muscle weakness or paralysis, seizures, loss of hearing or deafness, respiratory distress, exaggerated startle response to sound or light, and a red spot which is located on the macula in the child’s eye. I would recommend to the parents to seek out a specialist for comforting care. The comforting care would include but not limited to pain management, seizure control medications,
Tay-Sachs disease is a genetic disorder which results in progressive destruction of the nervous system. Children are the most common victims of the disease. In the general population, Tay-Sachs itself is rare. Tay-Sachs disease is most commonly found in people of east and central European Jewish descent, French-Canadian communities of Quebec, Cajun population of Louisiana, and the Amish. Mutations in the HEXA gene are the cause of this disease. This can happen in Prophase one of Meiosis due to the crossing of the sister chromatids in tetrad form may have mutated the chromosome encoding all the info for the Hexa gene. The HEXA gene gives instructions to make part of an enzyme called beta-hexosaminidase A. Alterations in the HEXA gene may damage
Tay-Sachs sickness is an entangled and uncommon malady that happens when there is transformation in the DNA. This change does not permit the body to create 'Hex-A', which is basic to separating greasy mixes. Without this chemical, cerebrum and nerve harm can happen. Tragically this ailment has no treatment arrange and normally by 10 months of age, the youngster may encounter visual deficiency, seizures and be formatively postponed. The visualization is tragic: the kid will once in a while live past 5 years of age. The reason the youngster has this malady is on account of it is acquired. Either one or both of the folks are a transporter of this genotype that when communicated in posterity brings about Tay-Sachs. In the event that both folks
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
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 disease is an autosomal fatal genetic disorder, it is also a form of lipid metabolism disorder. Due to a buildup of fatty substances in
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
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.
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.