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. Thanks to four scientist and doctors society is able to understand Tay-Sachs disease and begin looking for a cure. Tay-Sachs disease was discovered during the late 19th century by the British ophthalmologist, …show more content…
The abnormal accumulation of GM2 gangliosides in the neurons of the brain and spinal cord cause the neurons to slowly die, leading to the death of the individual. Infantile Tay-Sachs symptoms do not appear in the body until 3 to 6 months of age, but the destructive process had begun early in the pregnancy, leading to the general death around the age of 4. Juvenile Tay-Sachs symptoms begin to appear around 2 to 10 years of age, but despite the milder effects of the disease the destructive aspects of the disease have been at work since early on in the pregnancy, causing death to generally occur around the age of 15. Late Onset Tay-Sachs symptoms appear between adolescence and mid 30s, but does not have an average age of death. Due to the milder symptoms of the disease some individuals life expectancy may not be affected, but cases of Late Onset Tay-Sachs …show more content…
Although Tay-Sachs is an extremely rare disease it is most evident in people with Ashkenazi Jewish origin from eastern Europe and those with a Cajun heritage have a higher rate of being a carrier than any other group. Ashkenazi Jews and people of Cajun heritage have a carrier rate for Tay-Sachs disease of 1 in 17 people. However, 1 in every 25 people of Ashkenazi Jewish heritage have Tay-Sachs disease, including carriers of the disease. Another sad and interesting fact about Tay-Sachs disease is that children lose their ability to smile. While Tay-Sachs is a terrible and sad disease with barely no miracles, one miracle stands out and that is the oldest living child to ever live with Infantile Tay-Sachs. Seth England, 9 years old, is the oldest living child to have Infantile Tay-Sachs disease. Seth’s disease was discovered by his eye doctor and was later confirmed by the Mayo Clinic of Rochester, Minnesota. Despite the miracle of having lived so long with Tay-Sachs disease, Seth is only 70 lbs, can not talk or move and needs round the clock care his
It is truly remarkable how Randy Pausch and Morrie Schwartz stories are so similar but yet so different. They both seem to have an outlook on life in a positive way, not sad or demeaning. The only crippling difference is the fact that Morrie was at the age that wasn’t abnormal to be sick and Randy was just dealt the cards for a short life. One of Professor Randy Pausch’s many quotes during The Last Lecture makes a similar point between his experience and Morrie’s when he says, “…it’s hard to raise awareness of pancreatic cancer – people who get it don’t live long enough.” ALS is such a rehabilitating disease that scientist have issues pinpointing the causes to even get close to a cure, which didn’t hinder either of their strive to keep going as far as they could.
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 neurodegenerative disorder that is known to be genetically inherited. Both children and adults may suffer from this neurological disease, but it is most common in children (Percy, 1999). This disease causes abnormal brain development in individuals who are affected by this disease. This disease is known to get progressively worse, and unfortunately leads to death. Due to the rapid progression of this disease, the life expectancy is no more than five-six years of age due to complications related to the disorder (Percy, 1999).
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Creutzfeldt-Jakob is a fatal, progrossive and incurable neurologic disorder which affects the brain in a destructive way. Globally, it attacks one person in every one million people. Specifically, at United State there are more than 300 cases per year. However, it is extremely complicated to diagnose, so the number of cases might get higher in the future. CJD (Creutzfeldt-Jakob disease) symptoms usually occur in later life for women and men whose ages are between 60 and 70. This essay displays a definition of Creutzfeldt-Jakob disease based on its identity, causes, symptoms, risk factors and treatment.
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...
“The carrier rate for Tay-Sachs in the general population is 1/600” (OMIM). Sandhoff Disease is a rare genetic disorder, and it is a severe form of Tay-Sachs that progressively destroys cells in the brain and spinal cord. Since its discovery and analysis of inheritance, there have been advancements of its diagnosis, treatment, research, and its support resources for affected families. Those affected individuals lose motor skills and function of other body parts. As the disease progresses they experience seizures, vision/hearing loss, mental disability, paralysis, and a cherry red spot on the eye. This leads to loss of coordination, alertness, and respitory health. The disease has three forms infantile, juvenile, and late-onset. In infants symptoms usually begin at 6 months, and most don’t live past 3 years old. The juvenile and late-onset cases are mild compared to infants and the life expectancy varies. These mutated genes have many components that go into the evolution and complexity of Sandhoff’s existence.
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).
Canavan Disease is a fatal neurological disease where there is significant damage to the nerve cells in the brain. There is a defect in the myelin sheath that causes many problems for the nervous system. The major problem is caused when the enzyme aspartoacyle is not present. This missing enzyme causes a chemical imbalance that causes this defect in the myelin sheath. The myelin in the brain destructs which makes it a spongy tissue. This causes overall muscle weakening and slower movements, leading to severe mental retardation. A recent study has shown that the cells in the brain that are responsible for making myelin sheaths (oligodendrocytes), cannot complete the task. When babies are born they may not show any signs at all until the first few months. This disease is only inherited and categorized under a group of diseases called leukodystrophies. Leukodystrophies gets its name because it means there is a degeneration of myelin, which is a fatty cushioning that shields nerve fibers. This makes the nerve signals very difficult to transmit. People with Canavan Disease life span can range from a couple days, months, or maybe even until their twenties (Genetics Home Reference, n.d.); (Canavan Foundation, n.d.).
Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain. Infants who with Tay-sachs disease, who are not carriers, appear to develop normally for the first few months since their birth, but as the nerve cells become swollen with the fatty material, a severe decline of mental and physical abilities occurs. The child then becomes deaf, blind, and unable to swallow.
Where and how this deadly disease originated is unknown, but it was first identified in 1869, by the noted French neurologist Jean-Martin Charcot. ALS is not contagious, but research is still vague on the cause of the disease. Today, there are three recognized forms of ALS: genetic, sporadic, and Guamanian. The genetic form of ALS appears to be inherited or passed down within a family, and about ten percent of ALS patients have a family history of the disease. An abnormal gene has been located in about half these families, but the cause of the remaining half is still unknown. The next, most common form, is sporadic ALS. These patients have no family history of disease, and the cause of their coming down with ALS is a mystery. Finally, is Guamanian ALS, called this because a high percentage of cases occur in the Pacific Islands near Guam.
Imagine if you loss control of your body but your mind stayed unaffected. You would be a prisoner in your own body, all leading up to your death sentence. That is the sad fate for the people diagnosed with Amyotrophic lateral sclerosis (ALS). “Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder was first described by Ran in 1850. This description was then expanded in 1873 by Charcot, who emphasized the involvement of the corticospinal tracts. In the United States, ALS is often referred to as Lou Gehrig's disease, after the famous ball player who was stricken by the disease in the midst of his career. (Yale School of Medicine, 2014)” In this paper will go through the definition, the process, the signs, the risk factors, etiology, and discus the known people that have suffered with this terminal disease.
Guillain- Barre Syndrome (GBS) is a rare, but very fatal auto- immune disease that specifically focuses on attacking the myelin sheath that surrounds the peripheral nerves in the human body. There are many different severities of this disease, but without treatment it can not only affect the entire nervous system but eventually shut down the rest of the body.
With motor neurone disease it attacks the nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting. In the case study the
This is a neurodegenerative disease, meaning it results in progressive loss or death of neurons. It often starts off with effecting simple motor skills like writing and holding things, after a few months usually patients start losing the ability to walk, talk, or move any of their limbs. Although the brain trauma is what causes it, ALS has little-no-effect on the brain. This fatal disease is typically diagnosed around age 60 and most patients are given about 3-5 years to live after being diagnosed. It has been found that 10% of cases are shown as genetic. It was brought to attention that athletes were beginning to get diagnosed with ALS at a younger age than most. After extensive research in the early 2000’s, Brain Analyst, Dr. Mckee ran tests and finally came to the conclusion that the toxic proteins in the brains of ALS patients were coming from repeated blows to the head. It was then made evident why so many athletes in contact sports such as football, soccer, boxing, etc… were being diagnosed at such a young age and more frequently than