“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. There are many factors involved in the complexity of Sandhoff’s history, causes, and inheritance. Drs. Horst Jatzkewitz, Hartmut Pilz, and Konrad Sandhoff made the discovery of this disease in 1965. Originally these men were observing enzymes, and they found a new case of Tay-Sachs. It was then classified as an abnormal form of Tay-Sachs, but it was called Sandhoff due to the fact Konrad was given the most credit for its discovery. The determined cause of the disorder is an absence or reduced amount of the Hex A and Hex B enzyme. Without these, lipids abnormally build causing damage to cells. As a result of Sandhoff being an autosomal recessive disorder located on the 5q13 chromosome. Both parents have to be a carrier in o... ... middle of paper ... ...e, Sept. 2008. Web. 10 Feb. 2014. . McKusick, Victor A., Cassandra L. Kniffin, and Joanna. "#268800-Sandhoffs Disease." Online Mendelian Inheritance In Man, 25 Mar. 2009. Web. 10 Feb. 2014. . MOD. "Tay-Sachs and Sandhoff diseases." Birth Defects. March of Dimes, Dec. 2009. Web. 12 Feb. 2014. . NTSAD. "Sandhoff." NTSAD. National Tay Sachs & Allied Diseases, Jan. 2014. Web. 17 Feb. 2014. . Office of Communications and Public Liaison . "NINDS Sandhoff Disease Information Page." National Institute of Neurological Disorders and Stroke (NINDS). National Institute of Health, 6 Oct. 2011. Web. 14 Feb. 2014. .
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.
Lerner, K. L. & Lerner, B. W., (2008). Tay-Sachs disease. The Gale Encyclopedia of Science (4th ed.). Detroit
Throughout this semester, I have gained a abundance of information on genetics that I never knew, but reading the book "Mendel 's Dwarf" did make it a little bit more difficult for me to understand genetics. After looking back at my notes I remembered early in the semester our professor discussing the condition that Dr. Benedict Lambert suffers from which is Achondroplasia(dwarfism). Achondroplasia is condition of short limbs, usually in arms and legs, the torso and head size is majority of the time normal. Simon Mawer describe Dr. Lambert body as "His body is not normal, his is not normal, his limbs are not normal. He possesses a massive forehead and blunt, puglike features. His nose is stove in at the bridge, his mouth and jaw protrude. His
WORLD HEALTH ORGANISATION, 1997. Tabular list of neurological and related disorders. In: WORLD HEALTH ORGANISATION, ed. Application of the International Classification of Diseases to Neurology. Canada: World Health Organisation, p. 153.
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...
Goldmann, David R., and David A. Horowitz. American College of Physicians Home Medical Guide to Parkinson's Disease. New York: Dorling Kindersley Pub., 2000. Print.
Francis S. Collins is a renowned geneticist who originally became Ph.D in Physical Chemistry at Yale University and later on, a Medical Doctor at University of North Carolina. As soon as he graduated he was offered a fellowship in Human Genetics at Yale University under the guidance of Sherman Weissman, currently Sterling Professor of Genetics. In the late 1980’s Collins became known in the field of Medical Genetics for his development of positional cloning, a technique that allows to locate a hereditary disease-causing gene by studying the inheritance pattern within a family. Working with his method researchers found the genes responsible for diseases like Cystic fibrosis, Huntington’s disease, Neurofibromatosis, Multiple Endocrine Neoplasia type one, and Hutchinson-Gilford Progeria Syndrome. In 1993 Dr. Collins succeeded Dr. James D. Watson as the director of the National Human Genome Research Institute (NHGRI), overseeing the role of the United States in the mapping of the human genome. In 2009 President Obama personally recommended Collins to lead the National Institute of Health (NIH) where he works until present day. Francis S. Collins is by no means a bragging individual, bits and pieces of his accomplishments are scattered throughout the book and he makes no big deal about it; instead he j...
During fetal growth, the neural tube can develop any number of abnormalities. These “malformations occur because the tube fails to close properly, because parts of it are missing, or because part of the tube is blocked” (neural tube defect, 2014). Ramírez-Altamirano et al. (2012) have stated that “the most common types of neural tube defect are anencephaly, spina bifida, and encephalocele, all of which represent 95% of the cases.” Anencephaly is the most severe form of neural tube defect. In this condition the cephalic portion of the neural tube fails to close properly, resulting in very little cerebral tissue forming. Infants born with this defect are usually stillborn or live for a very short amount of time. Spina bifida consists of “a group of malformations of the spine in which the posterior portion of the bony canal containing the spinal cord is completely or partially absent” (Frazier & Drzymkowski, 2013, p. 63). This condition typically affects the lumbar portion of the neural tube, a...
Hutchinson-Gilford Progeria Syndrome is one of the world’s rarest diseases. There have been less than a hundred reported cases worldwide. Although the cause of the disease has been detected, because of its rarity, there is still no known cure for the condition. The life expectancy of a child with Hutchinson-Gilford Progeria Syndrome is 13 years. Many efforts have been made to help find a cure for this disease. The Progeria Research Fund is solely focused on raising funds towards the research for this fatal condition.
NIH, National Center for Biotechnology Information. (2015). Cyclothymic Disorder, ncbi.nlm.nih.gov Web. 22 July 2015. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002517
"Secondary Parkinsonism: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 11 May 2014.
National Institutes of Health. Retrieved [18th April 2011] from http://www.ninds.nih.gov/disorders/picks/picks.htm.
In Jan Tecklin’s book, Pediatric Physical Therapy, he states that “spina bifida is the second most common birth defect after Down syndrome” (163). Spina bifida includes any birth defect where the spinal canal is not completely closed. It is considered to be a neural tube defect or an NTD. The