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
The ethnic group of Ashkenazi Jews, is very tightly knit. Their religion teaches them to remain among their own small group. Ashkenazi Jews rarely marry outside of their group. Ashkenazi Jews have a carrier frequency of 1 in 25. As Tay-Sachs disease is inherited as autosomal recessive traits, two carriers must breed in order to produce and offspring with Tay-Sachs. Because of the high carrier frequency in Ashkenazi Jews, they are considered to be 10 times more likely to have Tay-Sachs disease than the general population. Carrier screening is recommended pre-pregnancy in all couples in whom at least one is an Ashkenazi Jew.
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).
Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Amyotrophic Lateral Sclerosis is better known as ALS or Lou Gehrig’s disease. Amyotrophic Lateral Sclerosis was not brought to International or national attention until Famous New York Yankees baseball player, Lou Gehrig, was diagnosed with it in 1939. Jon Stone, the writer and creator of Sesame Street, was also diagnosed with Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis is very deadly and it physically handicaps a person as it progresses. There are two types of Amyotrophic Lateral Sclerosis, Sporadic and Familial. Sporadic is the most common cause in some cases and Familial is inherited, which is rare. Amyotrophic Lateral Sclerosis is one of the most aggressive muscular atrophy disorders, it has many signs and symptoms, and it can be treated but cannot be cured.
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.
Henry Louis Gehrig was born June 19, 1903 in New York. His parents, who were immigrants from Germany, often felt the struggles of providing for their only surviving son. Gehrig’s mother worked tirelessly to make sure her son had a better life in America. She encouraged him to attend college, and in 1921 Gehrig began his college career at Columbia where he received a football scholarship. Gehrig was spotted by the New York Giants baseball manager, John McGraw, the summer before he started school at Columbia. McGraw persuaded Gehrig to play professional baseball in a summer league under a different name even though it was illegal at the time. Gehrig was eventually discovered to be playing in the summer league after partaking in numerous games. As a result, he was unable to be a part of any college sports his freshman year (RVWfoundation, 2011).
Amyotrophic Lateral Sclerosis (ALS) is a disease that affects the nerve cells in the brain and spinal cord, specifically the motor neurons. Motor neurons carry signals from the brain and spinal cord to all of the muscles in your body. When a person has ALS, they are not able to generate enough motor neurons, and the brain cannot then initiate and control muscle movement. After some time, when the disease gets progressively worse, the patient has difficulty speaking, swallowing, breathing, etc. These kinds of tasks are essential to the body, so when it gets to a certain point, the patient dies. There are several other names for this disease, such as Lou Gehrig’s disease, and Motor Neurone Disease (MND).
...m protect their families from this disease.A blood test can distinguish Tay-Sachs carriers from non-carriers. Blood samples can be analyzed by either an enzyme test or DNA studies. The enzyme test is a biochemical test that measures the level of Hex-A in a person's blood. Carriers have less Hex-A in their body fluid and cells than non-carriers, but babies with Tay-Sachs disease have a complete absence of Hex-A in their cells. The biochemical test is able to detect all Tay-Sachs carriers of all ethnic backgrounds.
The child that I tested will be referred to as K.L. I tested her on April 14th 2016. K.L. is 2 years old, with her exact age being 2 years 9 months and 14 days. I called and asked her mother if she would mind dropping K.L. off with me for a few hours so I could perform the test, and then pick her back up after the test was complete. This test more accurate when the caregiver is not present. K.L. has a step sister and a baby brother on the way. She has always been in the daycare setting, because her grandmother is a provider. K.L. was delivered full term via planned cesarean section due to her mother’s small pelvis. There was no complications during this pregnancy. K.L. weighted 8 lbs. 4 oz. and was 20 ½ inches long at birth, now weighting in at ...
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.]
The fetus may measure under expected weight, and with later ultrasounds, physical abnormalities may be seen. The use of an ultrasound is not a full proof method of diagnosis for trisomy 18. During the end of the first trimester, pregnant mothers are given the option of prenatal screening to assess the fetal risk of certain chromosomal abnormalities, including trisomy 18. This testing referred to as combined test, combines results from the mother’s blood and the ultrasound results. If results suggest a higher risk probability, a later more conclusive test will be scheduled. During the 15th to 18th week of pregnancy, an amniocentesis or chorionic villus can be performed to have a detailed analysis of the fetal chromosomal material which will show any abnormalities in their karyotype. There is a slight risk with both procedures of injury of the fetus or possible miscarriage. Newer testing has been developed as “non-invasive prenatal diagnosis,” which involves extracting fetal DNA from the mother’s blood sample. After birth, diagnosis is suspected based on physical attributes of the infant. As with before birth, blood testing for chromosome analysis is used for confirmation testing.
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.
second, prenatal testing, is a testing of a fetus at risk for the disease. The
Diagnostic testing is a huge category in health care that has been majorly affected by new technology, in both good and bad ways. There are several different types of testing, prenatal and genetic being a couple that have had drastic changes in technology. Thanks to new cell-free DNA (cfDNA) testing, doctors have an improved understanding of the efficiency and restrictions concerning prenatal diagnoses (Lockwood). With enhanced testing, doctors can now detect
If I was a genetic counselor working with a couple who just had a child with Tay-Sachs disease, I would first explain that it is an inherited genetic disease. It would be important to explain the lineage of the disease and how if they were to trace their ancestry, it would most like trace back to European Jews. People of this decent have a 1 in 27 chance of being a carrier. Testing of the parents to see if they are carriers would not be necessary. I would explain that they are definitely both carriers because the only way to have a child with Tay-Sachs is to receive the defective gene from both parents and the two defective genes are now affecting each cell inside of their baby.