Williams syndrome also recognized as Williams-Beuren syndrome is a genetic disorder caused by a deletion of more than twenty five genes from chromosome 7. Although Williams syndrome is often non-hereditary‚ the chances of the syndrome being passed on if an individual with Williams syndrome has a child are fifty percent. Individuals born with Williams syndrome often possess distinctive facial features which make the syndrome easily recognized. These features include wide spaces between their teeth
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Muscle fatigue‚ or physical fatigue‚ is the decline in ability of a muscle to generate force. It can be a result of strenuous exercise but unusual fatigue may be caused by interference with the different stages of muscle contraction. There are two main causes of muscle fatigue‚ nervous fatigue and metabolic fatigue. Nervous Fatigue Nervous fatigue is the decline in the ability of a nerve to sustain a signal resulting in innervation of the muscle. The muscle’s ability to generate force is most strongly
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Asperger’s Syndrome Today there are many different types of disabilities and syndromes. When you have a child to be diagnosed with a disability or a syndrome life can suddenly become overwhelming. This is especially true if they have been diagnosed with Asperger’s Syndrome. Parents sometimes feel guilty because their child has a disability or syndrome. Parents may feel that they are responsible for their child’s disability or syndrome. Parents may feel guilty about their child being diagnosed
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14 November 2011 Outline INTRODUCTION Thesis Statement: Although Down syndrome is used as a general term‚ several forms of this syndrome exist. I. Diagnosis A. Discovery B. Cause II. Types A. Trisomy 21 B. Translocation C. Mosaicism III. Expectations From Therapy CONCLUSION Down syndrome Lot’s of people fail to realize that several forms of Down syndrome exist. “Down syndrome is a set of mental and physical symptoms that result from having an extra copy
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Down’s Syndrome Down’s syndrome is a genetic condition involving an extra chromosome‚ this change occurs around the time of conception. A person with Down’s syndrome has forty-seven chromosomes instead of the usual forty-six. A relatively common genetic disorder‚ Down’s strikes 1 out of 600 babies. In 95 percent of all cases‚ the disorder originates with the egg‚ not the sperm‚ and the only known risk factor is advanced maternal age-at age 35‚ a woman has 1 chance in 117 of having a baby with
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is like that. Have you ever heard of something called Marfan syndrome or MFS? It is a genetic disorder that about one in every five thousand people have and there is a fifty percent chance that it can be passed on to the next generation ("What Is Marfan Syndrome?"). Marfan syndrome is an abnormal condition characterized by elongation of the bones‚ and abnormalities in the cardiovascular system and the eyes (Hamilton). Marfan syndrome is a genetic disorder that can be inherited from ancestors and
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comes to chronic diseases. Since we all know that we can safely eat a candy or even as many as thousands of candies or lay on the couch watching television day after day without seeing any immediate harmful effects‚ it can be difficult to imagine that we are slowly developing chronic diseases over time. This concept of developing diseases over time from the specific lifestyle choices that each of us makes‚ is known as chronic diseases of lifestyle (CDL). It is unfortunate that these chronic diseases
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METABOLIC SYNDROME LEARNING OBJECTIVES At the end of lecture students should know – Definition of Metabolic Syndrome – Visceral obesity is an indicator of the syndrome and an independent marker for CVD – Current and some potential future treatment options. METABOLIC SYNDROME CONCEPT (Not New) • 1923 - Kylin first to describe the clustering of hypertension‚ hyperglycemia‚ hyperuricemia • 1936 - Himsworth first reported Insulin insensitivity in diabetics • 1965 - Yalow and Berson
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Case Discussion Beal’s syndrome (OMIM # 121050) is a disorder of connective tissues. The syndrome was first explained by Beal’s and Hecht in 1971. It is inherited as an autosomal dominant disorder that is characterized by multiple flexion contractures‚ arachnodactyly‚ severe kyphoscoliosis‚ abnormal pinnae and muscular hypoplasia. It is caused by a genetic mutation in FBN2 gene (encoding the extracellular matrix micro fibril fibrillin 2) on chromosome 5q23. The FBN2 gene provides instructions for
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This literature review will be looking at an assortment of scholarly articles available online in order to investigate the effects of different kinds of chronic joint pain‚ their causes and different methods of treatment with varying levels of effectiveness and acceptance by the medical community. Chronic joint pain is primarily caused by arthritis‚ the common name for over 200 diseases and conditions that cause swelling and inflammation of joints and surrounding tissues. The most common forms of
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