Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Lesch-nyhan syndrome
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Lesch-nyhan syndrome
Lesch-Nyhan syndrome is a disease that appears almost entirely in males. It is categorized by neurological and behavioral oddities and the overproduction of uric acid. Uric acid is a waste product of regular chemical processes that are located in blood and urine. Additional uric acid can be discharged from the blood and build up under the skin and cause gouty arthritis (arthritis that is a build up of uric acid in the joints). Uric acid buildup can also cause kidney and bladder stones. The nervous system and behavioral disorders experienced by people with Lesch-Nyhan syndrome contain irregular unintentional muscle movements, such as tensing of various muscles (dystonia), jolting movements (chorea), and thrashing of the limbs (ballismus). Persons with Lesch-Nyhan syndrome usually cannot walk, require aid sitting, and commonly use a wheelchair. Self-injury (including biting and head banging) is the most common and is a very distinct behavioral problem in patients with Lesch-Nyhan syndrome.
The most usual displayed characteristic is developmental delay throughout the first year of life, with hypotonia and late motor skill maturity usually apparent by age three to six months. Kids with Lesch-Nyhan syndrome fail to reach normal milestones that include walking, sitting by themselves and crawling. Growth and puberty are also full-fledged at later times than normal children. If symptoms are appropriately coped with, most individuals survive into their twenties or thirties. There may be a slower advancement of disease in adulthood. Overall in the United States, Lesch-Nyhan syndrome affects 1 and 380,000 people. According to worldwide tests, the disease has the same frequency in each population and is not apparent more in a specific ethni...
... middle of paper ...
...at have it battle hard and try their hardest to live the most normal life possible.
Works Cited
Kaneshiro, Neil K. "Lesch-Nyhan Syndrome: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 16 May 2012. Web. 15 Jan. 2014. http://www.nlm.nih.gov/medlineplus/ency/article/001655.htm
2.) "Lesch-Nyhan Syndrome." - Genetics Home Reference. U.S. National Library of Medicine, 13 Jan. 2014. Web. 14 Jan. 2014. .
3.) Jinnah, H. A. "Lesch-Nyhan Disease ." Lesch-Nyhan Disease. WebMD, 13 Dec. 2013. Web. 15 Jan. 2014. .
4.) Draper, Richard. "Patient.co.uk - Trusted Medical Information and Support." Patient.co.uk. EMIS, 17 Sept. 2010. Web. 14 Jan. 2014. .
The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. At birth, the bones of the skull are not joined together; they close up as the child grows. In Jackson-Weiss syndrome, the skull bones join together too early. This is called "craniosynostosis." Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features. The big toes are enlarged and bend away from the other toes. They have very different ways off forming in the feet including the big toes are short and wide, the big toes also bend away from other toes, and the bones of some toes may be fused together which they call “syndactyly” or abnormally
McKusick, Victor A., Cassandra L. Kniffin, and Joanna. "#268800-Sandhoffs Disease." Online Mendelian Inheritance In Man, 25 Mar. 2009. Web. 10 Feb. 2014. .
Williams, C. A., Angelman, H., Clayton-Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J., Magenis, R., Schinzel, A., Wagstaff, J., Whidden, E. M. & Zori, R. T. (1995). Angelman Syndrome: Consensus for Diagnostic Criteria. American Journal of Medical Genetics, 56, 237-238.
Sarkar, P. K., & Shinton, R. A. (2001). Hutchinson-guilford progeria syndrome. Postgraduate Medical Journal, 77(907), 312-7. Retrieved from http://search.proquest.com/docview/206274391?accountid=1599
Philip Mortimer BMJ: British Medical Journal , Vol. 321, No. 7269 (Nov. 4, 2000) , p. 1123
Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
Cushing syndrome may affect anyone at any age. It develops when the body either produces too much of a certain hormone called cortisol or the patient might be receiving too much cortisol through corticosteroid hormone therapy. When a person receives too much cortisol, it’s diagnosed as hypercortisolism. This can lead to an interference in the production of other hormones from the other glands, not just the adrenal glands. If left untreated, Cushing syndrome may lead to Cushing’s disease. Many patients develop “moon face” or a “hump back”, along with many other symptoms, if this disease is left untreated for too long.
2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
Rett syndrome is a particular neurological disorder that is first found in the first few months of life and typically almost always diagnosed in girls, but can be seen in boys, rarely, but it is possible (International Rett Syndrome Foundation, 2014). Rett syndrome symptoms soon appear after an early period of regular or near regular development until six to eighteen months of life, when there is a slowing down or stopping of skills. A period of backsliding then follows when the young female child loses communication skills and purposeful use of her hands. Soon, the known physical handicaps became visible such as washing hands, difficulty walking, and head growth abnormalities, the head will grow slower than it supposed to. More symptoms that may be brought on by the syndrome can include seizures and rapid and/or slow breathing repetitions while the child is not sleep. In the younger years of childlife, there may be a time of separation or withdrawal when she is irritable and cries inconsolably. With time, motor skill problems may increase, but in generally, the irritability the child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not a degenerative disorder, saying that this syndrome does not cause the body or the mind of the infected child to become weaker. It also causes problems in brai...
Berwick, D. M. (2002). A user's manual for the IOM's 'quality chasm' report. Health Affairs,
Sarnat HB Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF,eds.Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap601
When caring for patients it is fundamentally important to have a good selection of up to date evidence Based Practice clinical articles to support research strategies, this allows professionals to assemble the most resent and accurate information known which enables them to make decisions tailored to the individual’s plan of care. It is essential to have clinical expertise and have the involvement from the individual patient, they must have full engagement and incorporation in order to have the accurate evaluation.