Tay- Sachs is a genetic disease that is located on chromosome 15. It occurs when the body lacks a protein that helps break down nerve tissues. It was discovered by Dr Waren Tay, and Dr. Bernard Sachs. Dr. Bernard Sachs, a neurologist, uncovered the first description of the cell changes in Tay- Sachs. He also discovered the pattern of the possibility that Tay-Sachs could be passed down through family links, more commonly (at the time) of those in the eastern Jewish population. In 1881 Dr. Waren Tay, who was an ophthalmologist, discovered a bright, cherry red ring on the retina of a patient’s eye. The two doctors finding where later linked together and called Tay- Sachs disease. It was very common with the Ashkenazi (eastern) Jewish population as well as French- Canadians, Cajuns and the Pennsylvania Amish Now Tay- Sachs is found in people of all ethnical backgrounds. In the spring of 1971 the very first Tay- Sachs screening event took place. Tay- Sachs occurs when the body lacks a protein called hexosaminidase A, which helps break down nerve tissues. It is a defect located on chromoso...
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
Tay-Sachs disease is a rare and fatal genetic disorder that destroys neurons in the brain and spinal cord. The disease appears in three forms, Juvenile Onset, Late Onset (known as LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons.
Tay-Sachs disease is a rear inherited disorder that affects the nerve cells (neurons) in the brain as well as the spinal cord. This disease is an autosomal recessive genetic disorder rather than a sex-linked disorder like some think. In order to inherit Tay-Sachs disease, the gene must be inherited by both parents (Gravel, 2003). If the gene is inherited only by one parent, then the individuals will only be a carrier and has the potential of passing on this disease to their children. The odds of inheriting Tay-Sachs disease if both parents are carriers are 1-4 (25%). The chromosome responsible for the abnormality or mutation that causes Tay-Sachs disease is chromosome 15. Chromosome 15 is the one that codes for production of the enzyme hexosaminidase A (Hex-A) (Gravel, 2003).
In the beginning of the story, Tayo is in a Veteran's Hospital. In the hospital he felt like smoke, virtually invisible. When the doctor asked him questions he simply responded, " sorry but nobody was allowed to speak to an invisible one." (p.15) However, the doctor kept asking him the same question, "If he had ever been visible." (p.15) Every time the doctor asked the smoke that clouded his vision cleared away. His visits to the doctor can be seen as the very first ceremony. It is there that the doctors are able to get Tayo to communicate with them. First he only speaks of himself in the third person. He sees himself as invisible and separate from his body. As the doctors keep talking to him Tayo starts to realize why he cries and is able to see more clearly.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
Survival Motor Neurons are a protein that is produced by the survival motor neuron gene 1. The SMN protein is found all over the body, especially containing high levels in the spinal cord. This protein is important for maintaining specialized nerve cells called motor neurons that are located in the spinal cord and brainstem. When a person have An abnormal or missing SMN1 it causes serious problems due to the fact it isn’t receiving the proper communication from these cells resulting in nerve cells shrinking and over time dying.
TSEs or more commonly prion diseases are a group of invariably fatal neurodegenerative diseases that occur in humans and animals . This disease is caused by a protease –resistant protein (PrPsc) after misfolding of a host-encoded prion protein (PrP). TSEs can exist as genetic, infectious or sporadic forms. The diseases are characterized by dementia, ataxia and neuropathlogically due to loss of specific neurons in the brain. Other clinical features include persistent painful stimuli, dystonia, visual or cerebellar problems and gliosis (1).
According to www.medterms.com , ALS is defined as “a classic motor neuron disease. Motor neuron diseases are progressive chronic diseases of the nerves that come from the spinal cord responsible for supplying electrical stimulation to the muscles. This stimulation is necessary for the movement of body parts.” “1 out of 10 cases are a genetic defect” (Amyotrophic lateral sclerosis- National Library of Medicine, 2012). The other nine times, the cause of cannot be determined.
Amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig's disease, is a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement (Dugdale, Koch, and Zieve 2010). In ALS, nerve c...
Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.
Parkinson's is an idiopathic, multifactorial neurodegenerative disease that attacks neurotransmitters in the brain called dopamine. Dopamine is concentrated in a specific area of the brain called the substantia nigra. The neurotransmitter dopamine is a chemical that regulates muscle movement and emotion. Dopamine is responsible for relaying messages between the substantia nigra and other parts of the brain to control body movement. The death of these neurotransmitters affects the central nervous system. The most common symptoms are movement related, including shaking, rigidity, slowness of movement and difficulty with posture. Behavioral problems may arise as the disease progresses. Due to the loss of dopamine, Parkinson's patients will often experience depression and some compulsive behavior. In advanced stages of the disease dementia will sometimes occur. The implications of the disease on the anatomy and physiology of the respiratory and phonatory systems significantly control speech.
A piece of well-oiled machinery consists of an intricate and complex system: there are well-organized processes, mechanisms within the device work efficiently, and multiple processes function simultaneously to subsequently perform various functions. What happens when there is a glitch in the machine? When there is something wrong, such as connections between intricate processes, which do not follow through, the machine fails to function properly. In some cases, there are not any adjustment or fallback mechanisms. At that point, the damage can be irreversible and the machinery is no longer salvageable. [However, this can illustrate the interactions and processes within the complex machinery.]
James Parkinson first discovered Parkinson's Disease in 1817. Parkinson's Disease is a common neurologic disorder for the elderly. It is a disorder of the brain characterized by shaking and difficulty with walking, movement, and coordination. This disease is associated with damage to a part of the brain that controls muscle movement. Parkinson's Disease is a chronic illness that is still being extensively studied.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's