Prognosis For All Three Forms Of Griscelli Syndrome

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

Without this enzyme working properly, there will be a toxic buildup of ganglioside in the brain causing serious and life-threatening complications. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”).Which is why the symptoms are so serious and normally result in the death of the person that has this disease. The person doesn't necessarily die from the actual disease sometimes, it can actually be from complications caused by this disease. 1 in 3600 Jewish infants are born with Tay Sachs disease. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). This disease, although it may not seem like it, is a autosomally recessive disease that has to be inherited through parents that either have the disease or are both carriers. Parents can be carriers and not even know it because this disease is recessive so both recessive alleles have to be present in order for the disease to show itself. Interestingly, 1 in 27 eastern European Jews are carriers for this disease. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Two of the three forms listed above are fatal and result in death not very late after diagnosis. Death normally occurs at a young age as the

It became known that it was a genetic mutation on the HEXA gene on chromosome 15 that caused the disease. he HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme in the lysosome (works to destroy toxins and recycles waste) breaks down fatty structures, GM2 Gangliosides. When the gene mutation is visible, a defected beta-hexosaminidase A and they can’t properly break down the gangliosides. The buildup of gangliosides reach toxic levels and provide damage around the brain and spinal cells. They destroy the neurons around those areas, causing Tay-Sachs symptoms to become apparent like bad coordination and mental problems There are a large number of HEXA mutations discovered to be responsible for the Tay-Sachs. The mutations include base pair insertions and deletions, splice site mutations, point mutations, and other complex patterns. Each mutation alters how the protein works to produce, and overall alters the enzyme's

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

This disease causes the deterioration of the nerve cells and physical state for the first 6 months. Some symptoms during the infantile stage are blindness, deafness, and the inability to swallow. Sometimes the infant could be born paralytic. At juvenile age, the child may experience cognitive and motor skill deterioration. Motor speech, muscle movement, and swallowing are all non-apparent in the juvenile. Genetically, Tay-Sachs disease is caused by the HEXA gene. This gene provides instructions for making enzyme, beta-hexosamindase A, which is essential in brain, nerve, and spinal cord development. Mutations in this gene cause the beta-hexosamindase A from breaking down GM2 ganglioside which results in the accumulation of gangliosides in the brains nerve cells, thus causing Tay-Sachs disease. Tay-Sachs develops when very harmful gangliosides collect in the brains verve cells which ultimately result in death of the cells. Tay Sachs can be identified as a cherry-red spot located on the nerve

In contemporary America, the media is known for routinely showing images of the ‘normal’ body of the so-called ‘regular’ people, and those interpretations are disseminated all over society. Not only does the popular media impose those idea repeatedly, they consistently display women and men as products to be sold. There are some who shamed those for even displaying such bodies to begin with like the disabled woman, Jes Sachse, a twenty-five year old Canadian who garnered attention by mirroring American Apparel ads of beautiful, but racy images of other women. The difference between her and those women is her genetic disorder called Freeman-Sheldon syndrome, which is a condition that deforms areas such as the face, hands, and feet. She ultimately gained popularity,

Tay-Sachs disease, (also known as GM2 gangliosidosis or hexosaminidase A deficiency), is a fatal autosomal recessive genetic disorder caused by insufficient activity of the enzyme beta-hexosaminidase A. It is very rare, found more prevalently among certain populations, like those with Eastern European, (Ashkenazi Jewish) heritage (Bethesda, 2014), and usually results in death by the age of four. The purpose of this essay is to illustrate the pathology and inheritance patterns of this genetic disorder, and provide the molecular base, prognosis, and possible treatments.

It is available when both members of a couple are carriers. These tests can also be used to screen if you are a carrier of the disorder. Although there is no cure for Sandhoff, there is treatment. These are used to manage symptoms and pro-long life expectancy.” Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures (NINDS)”. As a result of research there are more experimental treatments. For example, children can receive transplants of stem cells from an umbilical chord. Another way is through gene therapy; which is done by “restoring the missing enzyme by introducing the correct genetic code so proper enzyme production can occur (NTSAD). “ Due to further research attempts, after diagnosis, there are ways to treat and manage symptoms to provide comfort.

6. Based on the cell biology, what options do you have to treat the disorder?

Tay-Sachs disease is one of three autosomal recessive, lysosomal storage disorders, collectively known as the GM2 gangliosidoses. They result from accumulation of

Symptoms of Tay Sachs disease is muscle weakness, lacking of muscle coordination, movement issues, problems with speech, and mental issues. The disease is caused by mutations in the HEXA gene. The HEXA gene is responsible for making a part of an enzyme called beta-hexosaminidase A which is located in lysosomes and plays a key role in the brain and spinal cord. The enzyme helps break down a substance called GM2 ganglioside. The mutation will keep the enzyme from breaking down the GM2 and the substance builds up to toxic levels mostly in neurons in the brain and spinal cord. As the GM2 substance builds up even more, the neurons are destroyed and symptoms began to show.

In the past, doctors had to base a diagnosis of progeria solely on physical symptoms, such as skin changes and a failure to gain weight, that were not fully apparent until a child's first or second year of life. But now the genetic test enables doctors to diagnose a child at a younger age and initiate treatment early in the disease process. Since this genetic test diagnosis children at their infant ages they can begin the treatment plan at a young age. Scientists now know that HGPS is usually caused by a change of only one letter in the billions of letters that make up DNA. That change can be seen using genetic sequencing, in which the gene is "decoded" and its sequence is determined letter by

Tay sachs disease is a rare disease that shows up in children at the age of 3-6 months that makes brain cells die it could also cause kids too loose helpful motor skills that they need. It could also make people that are older lose hearing and or vision. Tay sachs causes a cherry red spot in your eye which Wikipedia says “ a cherry red spot is a finding in the macula of the eye in a variety of lipid storage disorders and in central retinal artery occlusion.” another symptom is seizures can occur in anyone that has this disease tay sachs disease is mostly found in jewish people. When you have tay sachs disease you will most likely die when you are are an infant and if you live after infancy then you will most likely die before 50. If you have a severe case of tay sachs then you will most likely not live very long.

The Gauchers’ disease is described as the metabolism error that leads to the defect on the enzymes. This disease occurs during birth and the most common genetic disease among the Ashekenazi Jews. The disease leads to the weakening of the bones, anemia, platelet deficiency and enlarged spleen.

Mutations of the GL13 gene during development is known to cause this disorder. It is known to be involved in the patterning of tissues and organs. It helps by helping to control whether specific genes are turned off or on. This condition can also be inherited.