Lesch-Nyhan Syndrome Research Paper

Cerebral palsy is the term given to a general group of nonspecific neuromuscular disorders that cause behavioral abnormalities. The condition was originally thought to be caused by asphyxia and trauma during pregnancy; however, through extensive research many divisions of cerebral palsy emerged. Such categories include spastic, athetoid, and ataxic cerebral palsy. Today over half a percent of the worlds population is subject to this condition of the brain. Two to four out of a thousand are affected in the industrialized United States; however, with the introduction of new preventive measures the numbers of cerebral palsy victims born each year are expected to decline. (Anee Stanford, General Information about Cerebral Palsy, page 1&2)

LNS is a recessive disease that is carried by mothers and passed down to their sons. It is highly unlikely that a female would have LNS because two copies of the mutated gene would need to be present. One of these copies would be inherited from her father, which is not likely because males with LNS do not have children due to the effects of the gene. However, some females carry the disease, but they are silent

Symptoms include the child losing powerful hand skills and ability to speak. Hand movements such as hand wringing, washing, clapping, tapping, as well as the child putting their hands in their mouth become habit in this stage. The movements are prominent when the child is awake and disappear when the child is asleep. Breathing irregularities such as apnea and hyperventilating occur. Some of the girls will begin to display autistic like symptoms, losing social interaction, avoiding eye contact, and loss of communication. Slowed head growth becomes noticeable in this

It is difficult to diagnose CP before 6 months except in the complicated cases; it can be detected before the 6 months. (Sankar & Mundkur, 2005). Earlier symptoms that appear in CP are delay in motor progress, abnormal muscle tone and body positions. (Krigger, 2006). CP child shows inability of head control after the first 3 months, disinclination to sit or roll after 6 months, difficulty to walk after 18 months, and presentation of some of primitive reflexes that normally disappear at certain age. Berker & Yalcin (2010). Muscle tone in the initial period of a CP child displays hypertonicity, then around the 6 to 18 months hypertonicity is increased to be spasticity, or fluctuated between hyper or hypo tonicity. Berker & Yalcin (2010).

Cerebral palsy is deemed as a very common genetic medical condition, in which a child develops physical disability in relation with the body movement. A substantial number of legitimate and credible journal articles have discussed this medical condition. It has been evaluated that the condition of cerebral palsy will also cause certain sensation related abnormalities along with improper communication (Shatrov, et al, p. 387). This medical condition will make a direct impact over the physical and mental health condition of the patients. Different reviews have mentioned that the incidence rate of cerebral palsy is always increasing among the population of the United States of America (USA). However, still the prevalence rate of this condition

Among the many developmental disabilities known in the world today, “Cerebral Palsy (CP) is the most common motor disability in childhood.” (ythfcku) Cerebral Palsy is the term used to describe a number of different chronic conditions that impair the body’s movement and muscle coordination; this is typically caused by some extent of brain damage. The following paper will go on to inform you about all aspects of cerebral palsy so that you shall have a better understanding of this specific disability. The first thing to be explained is exactly what cerebral palsy is and the complications along with the disorder, what the different causes are of cerebral palsy, and then I shall go on about how to diagnose and treat the symptoms one would have to live with.

Cerebral palsy (often known as CP) is a term that broadly covers a number of conditions in which a person has an impairment of their motor function. Though motor skills are essential in living a normal lifestyle, living with CP is completely manageable in today’s modern world. Currently, there is no definite cure to offset the symptoms of CP, but there are a number of treatments that can mitigate the various effects of the condition. In this paper, I would like to discuss the effects of cerebral palsy, the treatments involved, quality of life for those who are affected, and future research regarding the condition.

Specific problems in the body cause motor delays. Motor delay means following a normal course of development at a level below suggested expectations for that child’s age. Problems with an internal system, the central nervous system, can lead to very specific movement problems. The cerebrum is a part of the central nervous system, if damaged it will limit or eliminate modulation, cause astereognosis and agnosia, damage reflexes, and impair laterality. Apraxia is a motor disorder caused by the damage of the cerebrum. Apraxia is a disorder of motor planning. Children with apraxia are clumsy and poorly coordinated when learning new motor tasks. Their advancement with new motor skills is not as efficient as other children. This is because their movement is very stiff, they have extraneous movements, seem to not understand where their body is in space, and have trouble with eye-hand and eye-foot coordination. (Payne & Isaacs, 2012) The damage in a child’s central nervous system, in this case cerebrum, result in a natural motor delay. This specific disorder supports the maturational perspective. Apraxia is an internal process determining change in a child’s motor development.

The genetic disorder I have been researching is Von Hippel-Lindau Syndrome. Von Hippel-Lindau Syndrome (VHL) is an inherited condition linked with the tumors in multiple organs. Organs such as blood vessel tumors of the brain, spinal cord and eye. VHL is passed on from generation to generation. A mutation in the VHL gene gives the person an increased risk of getting this disease. There are many different symptoms of this disorder. Some include difficulty walking and swallowing, headaches, poor coordination, and decreased feeling in the arms, legs, and body.

Cerebral palsy is a group of disorders which affects the development of movement and or posture, causing limitation of activates due to the permanent stationary non-progressive disturbance in the premature fetal of infant brain. (Gabr) This type of brain damage can occur in the womb, during the birthing process or in rare cases shortly after birth. There are 9 distinct categories that classify the severity of cerebral palsy and are defined by the symptoms a person displays. Depending on the location of the abnormalities on the brain, several different symptoms are visible. CP has many effects on the muscular system such as muscle control, coordination, tone and reflexes. Cerebral palsy is also accompanied by mental retardation in a majority of cases. Cerebral palsy is also the leading cause of physical disability in children that also has the possibility to cause motor disability the continues throughout life. (Gabr)

Lesch-nyhan syndrome is a disease caused by defection of enzyme due to genetical disorder. Enzyme which lacks is hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme is responsible for using purine embodied within nucleic acid. Because of this, blood is filled with excessive uric acid and purine which leads to hyperuricemia and sever gout. Uric acid and purine forms crystalline structure in kidney and joints. This disease come from disorder in X chromosome in DNA, so this disease is found mostly on male. Although there are reported cases in female, but it’s rare. The disease is found usually via abnormal behavior in child ages between 1 and 2 years old. Mental retardation, biting fingers and lips are common.

There are no exact cure for Lesch-Nyhan Syndrome, but there are various types of treatments for it.

The pro-oxidant effects of urate could be the link between hyperuricemia and inflammatory disease, yet the mechanism is poorly understood. In humans urate builds up in our serum from dietary purine. Urate is an antioxidant of reactive oxygen species, yet, high serum urate (hyperuricemia) is associated with gout, metabolic syndrome and cardiovascular disease. The link between hyperuricemia and inflammatory disease is oxidative stress. Urate acts as a pro-oxidant by generating reactive oxygen species and promoting the oxidation of LDL. Urate’s switch from antioxidant to pro-oxidant could be concentration dependent, ergo the ‘dose makes the poison’.

Gout is a condition of the joint that causes the patient severe pain. It is characterized by an increase of uric acid in the blood that lasts for some time. This elevation of uric acid in the blood is called hyperuricemia. In normal development, uric acid is chemical that is produced in the body. This chemical is created when the body breaks down substances called purines. Normally, uric acid dissolves in the blood and is excreted by the kidneys and passes through the urine. If the patient’s body produces an excess of uric acid or doesn 't remove enough if it, they can get sick. However, not all patients that have elevated uric acid levels will develop gout (Edwards, 2013). Under-excretion or over-production of uric acid by the

Uric acid comes from the breakdown of substances called purines. Purines are found in all body tissues. These purines are also found in many foods, such as liver, dried beans, peas, anchovies, red meat, fructose, and even beer (Katz). Uric acid dissolves in the blood, filters through the kidneys, and exits the body via urine excretion. This bodily function can be affected if the body increases the amount of uric acid it makes or intakes, and if the kidneys