Genetic Disorders: Tay Sachs Disease

Cherry red spot” in the eyes Infant with Tay Sachs Disease If two parents are carriers for

A) Similarities between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.

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

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.

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

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

Cystic Fibrosis (CF) is a common genetic disorder that affects the exocrine gland in the lungs, liver, pancreas, and intestines causing progressive disability due to multisystem failure. It is also known as “mucoviscidosis because of the mucus that builds up and blocks the respiratory system and pancreas”(Bedwell). Cystic Fibrosis affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. With them becoming so thick and sticky they can plug up tubes, duct, and passageways. Unfortunately, there is no real cure for Cystic Fibrosis. “Although, the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. New developments in prevention of exacerbations, therapy drugs and methods to preserve

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

Tay Sachs disease is a life threatening disease that is passed down through families. Anyone can be a carrier of Tay Sachs, but is not common in the general population. The disease is most common in the Jewish population. 1 in every 27 members is a carrier of the disease. Tay Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken (Genetics Home Reference, 2017).

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 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

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

Although Tay-Sachs is commonly found in infants/children, in some cases, symptoms and signs can appear in adolescence or even adulthood, and are milder than those seen with the infantile form. These symptoms include loss of muscle coordination/other problems with movement, speech problems, mental illness, and

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.

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