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.
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
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
Lou Gehrig's disease is often referred to as Amyotrophic lateral sclerosis (ALS), this is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons come from the brain to the spinal cord and from the spinal cord to the muscles throughout the entire body. The progressive degeneration of the motor neurons in ALS would eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is also lost. With voluntary muscle action progressively affected, for this reason patients in the later stages of the disease may become totally paralyzed (Choi, 1988).
Turner’s affects the second X chromosome in a chromosome pair. This X is either incomplete or missing completely, which causes a decrease in fetal development and also a decrease in the development after birth. Since Turner’s affects the second X chromosome, this means that Turner’s only affects females. However, females of a certain race, nationality or those who live in a certain region of the world have the same risk of having Turner’s. One in every 2000 to 2500 baby girls are born with Turner’s, according to the National Health Service in the United Kingdom. Normally if a baby is conceived with an X chromosome missing, the body will naturally abort the baby, which is a miscarriage. Turner’s is usually the cause of almost 10% of miscarriages in the first trimester.
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.
Even rarer forms of Tay-Sachs allow those affected to live into childhood, or even into adulthood, with extremely mild symptoms, such as Ataxia, weakness, and problems like mental illnesses or speaking difficulties. While Tay-Sachs disease is an autosomal recessive type inheritance, it’s most common in Ashkenazi Jewish heritage. Ashkenazi heritage is usually eastern or central European.
Once again, like cerebral palsy, there is no cure for myasthenia gravis. Although there is no cure there is treatments that allow going periods at a time without any symptoms. Some treatments for this disease includes making time to rest, use an eye patch for vision problems, and avoid any type of exposure to the heat. There are also medications that can be used to make symptoms better.
The reason Huntington's disease is a hereditary disease caused by a single abnormal gene. Doctors considered a dominant disorder chromosome is because only one copy of the gene is defective, inherited from parents. If the parent has a faulty gene, the chance that their children will have disabilities is 50 percent. Because the signs and symptoms often first appear in middle age, some parents may not even know they carry the gene until they have children grow up. If the child does not inherit by the defective gene then they will not pass down the Huntington’s disease for the next
Tay-Sachs disease is passed down from generation to generation by a certain gene. It is associated with chromosome 15, known as the HEXA gene. You have 23 chromosomes in total, including the X and Y chromosomes. On chromosome 15, the DNA codes for an enzyme, which is a substance that allows you to speed up chemical reactions in your body, that breaks down unneeded substances from your body. This enzyme is called beta-hexosaminidase. This unneeded substance that this enzyme breaks down is a fatty substance called GM2 ganglioside. If the enzyme is able to break down this GM2 ganglioside in the lysosomes, an organelle in your body where the breaking down of this substance occurs, there is no problem. However, in the case of Tay-Sachs disease, there is a change in this enzyme which will destroy this process. The enzyme not functioning properly will result in swelling of your nervous system, which will later on lead to the death of nerve cells. The swelling will eventually reach the brain and spinal cord, resulting to damage them. By the brain getting damaged and not functioning well it affects the nervous system. Having dysfunction in their brain and spinal cord, the infant would not be able to survive for long. Even with help with force-feeding, respiratory care, and other ways in which the hospital does to keep the infant to be alive, it would not last for long. Due to the weakening of the infant’s immune system, they eventually get infected with other diseases which cause their
There are multiple tests and doctors that may help diagnose a patient with Tay-Sachs disease. These test are organized into three groups based on when they are performed, such as preconception, antenatal, and after birth. Before pregnancy, both parents may have blood tests implemented in order to check for a hexosaminidase A deficiency. Such blood test are conducted by doing an enzyme analysis of blood or tissue. If both parents test positive for this deficiency there will be a 25% chance that the child will be affected by Tay-Sachs disease. Two types of antenatal testing may be performed in order to check the fetus for the disease, such as chorionic villus sampling and amniocentesis testing. An acceptable testing period for chorionic villus
Without this vital dopamine nerve cells cannot properly transmit messages resulting in a loss of muscle function.Parkinson's Disease is a non-communicable disease and doctors have not yet found out whether or not it is a hereditary disease. Parkinson's Disease has many distinct symptoms. The symptoms are:Muscle Rigiditystiffness difficulty bending arms or legsunstable, stooped, or slumped-over posture loss of balancewalking pattern changesslow movements difficulty beginning to walk difficulty initiating any...
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. Jean-Marie Charcot was the first to recognize ALS as a distinct neurological disease with its own unique pathology. In ALS, nerve cells degenerate and deteriorate, and are unable to transmit messages to muscles. In around 90% of the cases of ALS, the cause remains unknown. Studies have concentrated on the responsibility of glutamate in motor neuron degeneration. Glutamate is one of several neurotransmitters in the brain. While there is no known cure for ALS, strides in medicine have allowed for the development of a wide variety of medications to treat the various symptoms of ALS, as well as dietary, physical therapy, and breathing techniques, all of which can lessen symptoms and increase life expectancy.
Myerowitz, Rachel. (1997). "Tay–Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene". Human Mutation 9 (3): 195–208.