Sandhoff Disease Essay

Tay Sachs is an incurable genetic disease that affects the central nervous system. It is a rare disorder that occurs chiefly in infants and children, especially those of the Jewish heritage. It is characterized by a red spot in the retina, paralysis, gradual blindness, and loss of muscle movement.

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

Pick's disease is a form of dementia characterized by a progressive and irreversible deterioration of social skills and changes in personality, along with impairment of intellect, memory, and language. In 1892 Arnold Pick, a German neurologist studied a patient who in his life had dementia and lost of speech. When the patient died, his brain shrunk, with the brain cells having died (atrophied) in the specific areas of the brain. In Pick’s disease, the frontal and temporal lobes of the brain are most affected. Changes occur in the cerebral cortex (which is how the frontal lobe is affected.) Pick's disease affects the temporal lobes of the brain in 25%, frontal lobes in 25% and both frontal and temporal lobes in 50% of

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

CHARGE syndrome is a rare genetic disorder that manifests itself in 1 in 10,000 newborns. The syndrome is characterized by complex yet identifiable clinical features including Coloboma- which involves a cleft in one of the structures of the eye, heart defects, choanal atresia- a narrowing or blockage of the nasal cavity, retardation of growth and development, genitourinary malformation and various ear abnormalities (Kim et al., 2014). Although these malformations are associated with CHARGE syndrome, the specific pattern and severity of symptoms varies among diagnosed individuals (Hsu et al., 2014).

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

Tay-Sachs is a genetic recessive disease that causes physical and mental changes and deteriorations to be people that have the disorder. In the most common case of the disease, signs of having Tay-Sachs disease become visible around 6 months of age. Children with Tay-Sachs lose their motor skills, having a hard time crawling, swallowing, and standing. This comes from the weakening of their bones and slow development. As the disease progresses, recipients of the disease are prone to seizures, hearing and sight loss,intellectual disability, and paralysis. A cherry red spot on the eye is another common feature of people with the

"Children with Tac-Sachs disease often die by 4 despite the provision of best available care. Their seizures worsen, and eventually fall into an unresponsive vegetative state.

Tay-sachs disease is a rare hereditary disease that progressively destroys nerve cells in the brain and spinal cord, caused by an absence of an enzyme which leads to a buildup of fats in the nerve and brain cells. Which ultimately slowly destroys nerve and brain leading to the loss of mental and physical abilities such as speech, movement, sight and can lead to death (Freedman, 2009, p.8). Unfortunately there’s no cure but there is treatment but this treatment does not consist with preventing anything it's more for support and comfort. This treatments are: Medication can be used to reduce your child's symptoms. Respiratory care because children with Tay-Sachs disease are at high risk for lung infections accumulated mucus in the lungs that can cause breathing problems, but there is therapy called chest physiotherapy (CPT) that reduces the mucus and with our trained therapist we can train family members to perform CPT at home. Feeding tubes because of respiratory issues by inhaling food or liquids into their

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.

Tay-Sachs disease is an inherited disorder that progressively destroys nerve cells in the brain and spinal cord. Commonly it becomes apparent in infancy. Infants with this disorder usually appear normal until ages 3-6 months, when their development slows and muscles used for movement weaken.

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 disease is an inherited birth defect which first becomes noticeable at about four to six months of age when an otherwise healthy baby gradually ceases to smile, crawl, turn over, or reach out, and ultimately becomes blind and paralyzed. Death occurs at about the age of five years. Tay-Sachs disease is among a number of genetic disorders that result from the body's inability to produce lipid-degrading enzymes. Lacking these enzymes, lipids accumulate in the cells, resulting in kidney failure, enlargement of the liver and spleen, mental retardation, blindness, skeletal deformities, and, eventually, the shut-down of the entire nervous system.

Recognized as the terrifying and somewhat infrequent hereditary disease that plainly terminates your entire nervous system, Tay Sachs Disease normally appears all of a sudden and this is because of the enzyme beta-hexosaminidase A is not present in the body. People stricken by Tay Sachs Disease suffer a breakdown of their brain cells due to the body collecting fatty composites in the brain cells and tissues.

Sialadenitis associated with pain and swelling of the major salivary glands, is a common presentation to emergency rooms and outpatient clinics. One of the most frequent causes of sialadenitis is obstruction in the salivary ductal system. Salivary calculi affect 1.2% of the population and account for 60-70% of salivary duct obstruction. Other causes of obstruction to salivary flow include strictures in 25-25%, inflammation (5-10%) and other rare pathologies such as foreign bodies (1%).