Tay-Sachs disease

Tay - Sachs disease is inherited in an autosomal recessive pattern , this means the two alleles in each cell are mutated. The parents of an individual with an autosomal recessive condition each possess one copy of the mutant allele and are unaffected heterozygous carriers. Tay - Sachs disease deteriorates neurons in the brain and spinal cord. The most common form of Tay - Sachs disease is evident in infancy. Infants who inherit the disorder generally appear unaffected until the age of 3 to 6 months, at this stage their rate of development decreases and skeletal muscles weaken. Infants who have inherited the disease lose motor skills (an action which involves using muscles) such as rolling over, sitting and crawling. As the effects of the…

The Tay-Sachs disease was named after ophthalmologist Warren Tay he was the first to spot the cherry- red retina and now it the marker of this bad disease. Another man Bernard Sachs a neurologist was the first to describe the changes in the brain prevalence. Tay-Sachs the disease is something that is inherited from both parents it is when both parents carry the Tay-Sachs gene and both parent transmits the gene that is defective to their child. If a child inherits two Tay-Sachs genes from both…

Tay-Sachs disease (TSD), also called GM2 gangliosidosis, is an uncommon disorder that is genetically inherited, which progressively destroys cells in the central nervous system. The central nervous system consists of the brain and the spinal cord. Because the disorder is autosomal recessive, both parents must have the mutation in the gene in order for the child to be a carrier or have the disease. A child with parents that are both carriers has a 25 percent chance of getting Tay-Sachs and 50…

Tay-Sachs Disease What if I told you that there was a disease that could cause your muscles to weaken. That it could also cause your brothers or sisters to die at an early age. Tay-Sachs Disease is a genetic disorder that usually happens in infants and the symptoms don’t show until the 5-6 months. This disease kills thousands if not hundreds of thousands. Tay-Sachs Disease symptoms are diagnosed according to what causes Tay-Sachs. Tay-Sachs is not inherited. Doctors, after diagnosis, will…

Tay - Sachs disease is a fatal and genetic disorder. The disease “leads to gradual deterioration of the central nervous system. ” A child inherits the genetic abnormality if both parents are carriers of the TS gene. The gene mutation that is inherited with TSD is Hex- A. Since there is a lack of enzyme Hex -A a substance called GM2 begins to accumulate. Babies lack this important enzyme which later leads to progressive destruction of the brain’s nerves cells as their lives progress. (McDowell…

What is Tay-Sachs Disease Tay-Sachs disease is an autosomal recessive genetic disorder that was first witnessed by Waren Tay in 1881. The disease is named after Waren Tay and Bernard Sachs, both contributed to the discovery of the disease in the late 1800’s. Tay witnessed a “cherry-red” spot on the on the retina of the eye, which is a spot observed when the fovea’s center is surrounded by a white halo. Bernard Sachs witnessed that the disease was mostly prevalent in the Ashkenazi Jewish…

are so many diseases in the world today it is pretty much impossible to find a cure for all of them. One of the diseases that doctors have been studying and have so far, unsuccessfully found a cure for is Tay—Sachs Disease. If I were a Genetic Counselor who had to speak with a couple and inform them about their child having the disease, I would provide them with the following information and approach them as follows: Your child has been diagnosed with a disease referred to as Tay—Sachs…

Aims/Objectives of Investigation I am intrigued by the process of clinical investigation and the development of medical care in disorders that currently immedicable and incurable. My prime aim for this project is to examine and investigate the current state of medical research regarding treatment, therapies and understand the leading solutions in the aim to cure Tay-Sachs disease. This includes exploring the achievements attained and challenges facing the medical researchers and clinical…

Tay-Sachs disease is a rare fatal genetic disorder, which occurs in children and characterized by progressive destruction of nerve cells in the brain and spinal cord. Children with Tay-Sachs are born with the absence of an important enzyme, hexosaminidase A (HEXA). This enzyme is found in lysosomes, where it breaks fatty acids called GM2 ganglioside. The absence of hexosaminidase A causes GM2 ganglioside to build up in nerve cells to toxic level, causing its damage and the symptoms of the…

Tay-Sachs is an inherited disease that destroys neurons in the brain and spinal cord. The most common forms of Tay-Sachs appear in infancy, the infant 's affected by the disease generally show no signs, until 3 to 6 months of age. Infants affected by the disease lose motor skills, they also have a tendency to be startled easily especially by loud noises. Infants will begin to have seizures and develop hearing and vision loss, intellectual disability, and paralysis as the conditions…