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 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 the GM2 ganglioside in nerve cells. If this enzyme is not able to do its job, the compound will progressively accumulate to toxic levels in the brain and spinal cord. The buildup of the GM2 leads to the destruction of nerve cells which causes the signs and symptoms of Tay-Sachs. The only way a child can develop Tay Sachs is by inheriting it. This genetic trait is relatively common in certain ethnic groups, like the Ashkenazi Jews. There is a 1 in 27 chance that a Jew in the United States will be a carrier of Tay Sachs, and a 1 in 250 chance that someone in the general American population will be a carrier. Tay Sachs carriers have a 50 percent chance of passing the defective gene to their children. A child who inherits only one bad gene is a Tay Sachs carrier, just like their parent. If both parents are carriers and they pass the Tay Sachs gene on to their child, the child will have a 50 percent chance of being a carrier; a 25 percent chance of not being a carrier and not having the disease;... ... middle of paper ... ...d symptoms are usually milder than those seen in infants with the condition. Symptoms in adult-onset Tay Sachs include: muscle weakness, loss of muscle coordination (ataxia), other movement issues, speech problems, and mental illness. Adults that have adult-onset Tay Sachs can generally live full lives, though they more than likely will be wheel-chair bound. There is currently no cure for any form of Tay Sachs disease. Therefore, the treatment is focused on controlling the symptoms of Tay Sachs. Doctors are able to help a child deal with the symptoms of Tay Sachs disease by prescribing medication to relieve pain, manage seizures, and control muscle spasticity. Researchers are developing ways to study and improve treatment options for Tay Sachs disease. However, even with the best possible care, children with Tay Sachs disease usually die by the age of 4 or 5.
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 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
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.
...rrier. There are available tests you can take to determine the possibility of your children receiving the disease.
As motor neurons degenerate, this obviously means they can no longer send impulses to the muscle fibers that otherwise normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look thinner as muscle tissue atrophies (Choi, 1988).
Chronic Wasting Disease is a highly transmissible, deadly neurodegenerative disease that affects cervids in North America (Belay et al., 2004; Saunders et al., 2012). There are only four types of cervid that are known to get this disease which include elk, mule deer, white-tailed deer, and moose (Chronic Wasting Disease Alliance). It has been classified has a transmissible spongiform encephalopathy (TSE), otherwise known as a prion disease (Belay et al., 2004). A prion is an irregular, pathogenic agent that causes abnormal folding of specific proteins called prion proteins. These proteins are mostly located in the brain (Chronic Wasting Disease Alliance). The abnormal folding of this protein causes neurodegenerative diseases in a variety of species including humans, sheep, cattle, and deer (Abrams et al., 2011).
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.
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.
...ssible, some improvement can be expected with therapy. Participating in activities -- including school -- and improved social interaction are sometimes possible. Medicines can treat some of the problems with movement in Rett syndrome. Medication can also help control seizures. Unfortunately, there is no cure for Rett syndrome.” (WebMD, 2014).
Several medications are available that may, in some individuals, improve symptoms or temporarily slow the disease progress, including: Cognex, Aricept, Exelon, and Reminyl. Other drugs are now being tested and could be marketed in the near future.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.