Sandhoff And Tay Sachs Disease

Children affected by Tay Sachs disease are born seemingly normal and develop like any other child in the first three to six months of life. Throughout the next month, and sometimes even years, the baby will progressively lose the ability to see, hear, and move. The child will develop a cherry-colored red spot in the back of the eye and they lose or never even gain important motor and mental skills. The child will stop smiling, crawling, sitting, turning over, and reaching for things. By

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.

Tay-Sachs disease is a rare genetic disorder that destroys the nerves of the brain and spinal cord (the neurons). Tay-Sachs is usually discovered during infancy, the child appears to be on track and developing normal until the first signs of symptoms become apparent. The children typically do not live past the age of 5 due to many symptoms of the disorder/disease. However there have been individuals with Adult Tay-Sachs Disease (ATSD) and Late Onset Tay-Sachs disease (LOTS) in which they develop mild symptoms later on and worsen throughout the years. The symptoms include: loss of motor skills or muscle movement, vision and hearing loss, intellectual disabilities and dementia, and even can cause paralysis. The most common way to notice a child

Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms. These symptoms are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic disease.(“Health and Wellness Resource center and Alternative Health Module”). This disease is a autosomally recessive disease that is caused by a defect in the HEXA gene which provides instructions for making part of an enzyme called beta hexosaminidase A, which is critical in the brain

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 autosomal fatal genetic disorder, it is also a form of lipid metabolism disorder. Due to a buildup of fatty substances in

Imagine giving birth to a beautiful seemingly healthy baby, the doctor wiping him or her off and handing it to you. Two days later, the hospital discharges you, and you begin to spend the next 3 months adjusting your new baby to your home. Towards the 4 month mark you realize some serious symptoms that are hard to ignore such as the inability to grow beyond his or her small figure., inability to hold something like a spoon or even your finger,and lastly lack of eye contact. Scary as this scenario may seem, at least 16 babies are diagnosed with Tay-Sachs disease in United States every year. Unfortunately, the diagnosed cases are only found in toddlers because, children with this disease only survive to the age of 5 years of age.

The enzyme hexosaminidase is a crucial hydrolytic enzyme found in the lysosomes. When this enzyme no longer functions properly, lipids accumulate in the brain and cause interference with normal mental processes. Simple blood tests can determine presence of Tay-Sachs due to measurement of the levels of activity for hexosaminidase. The hydrolysis, (or breakdown) of the gangliosides requires three proteins: two of which are subunits of the enzyme hexosaminidase A, and the other being a small glycolipid transport protein that acts as a substrate (catalyst) for the enzyme. Deficiency in any of these proteins can lead to abnormal ganglioside storage, primarily in the lysosomes of neurons. Tay-Sachs disease occurs because of a mutation like this, either inhibiting or deactivating this process. The mutation occurs not at the active site, but instead because of incorrect function of intracellular transport. Infants with the disease Tay Sachs usually appear normal and healthy until three to six months of age. At this time, their development usually begins

The HEXA gene provides instruction for making part of an enzyme called beta-hexosaminidase A, which plays a very critical role in the brain and spinal cord. This enzyme is found in the lysosomes, which are the structures in cells that break down toxic substances and their job is that of a recycling center. Beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. The mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in the neutrons in the brain and also the spinal cord. Damage by the buildup of GM2 ganglioside leads to the destruction of the neurons; Causing signs and symptoms of Tay-Sachs disease.

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 disease (TSD) is a fatal genetic disorder resulting in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A

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 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,

Also, diagnostic lab testing is done from blood and skin samples of progeria children to take a close look at the DNA.

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.