Fabry Disease Analysis

5. What is the prevalence and prognosis of this condition? Is it an inheritable (genetic) condition/disease? (1 point)

As a HNC Health Care student I am required to provide evidence of the following principal aims and objectives: to integrate knowledge, theory and practice, to develop and apply a broad knowledge and skills and to have an individual patient/client focus in my practice. To achieve all of the above I am required to complete project in a form of Graded Unit which consists of three stages: planning, development and evaluation.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

The 25 participants were interviewed by a certified doctor and were asked questions regarding their

The symptoms for MSUD depend on its type of MSUD. There are four types; Classic MSUD, Intermediate MSUD, Intermittent MSUD and Thiamine-responsive MSUD. They are all inherited by genetics. The difference depends on how severe it is, how active their enzymes are and the age when this disorder

INTRODUCTION: The definition of FG syndrome is based on original observations by Opitz and Kaveggia in 1974. They described a case of 3 brothers and their 2 male first cousins with an undescribed X- linked mental retardation syndrome. They were also affected with macrocephaly, imperforate anus and congenital hypotonia and agenesis of the corpus callosum . In 1977, Riccardi et al reported another male in the original family and 3 affected brothers from an unrelated family . They had short stature, joint contractures, seizures, characteristic personality and facial features,

Fabry disease is a rare genetic disorder. A gene defect (mutation) alters a protein, called an enzyme, that normally breaks down a particular fat (globotriaosylceramide). The mutation keeps the enzyme from breaking down the fat. This causes excess fat to build up in the blood vessels (vasculature) of many organs of the body. Over time, this results in less blood flow and fewer nutrients getting to the body's organs. The buildup can also wear away at nerve fibers. That causes pain and other symptoms. The areas most often affected are the hands and feet, skin, eyes, and digestive system. Eventually the fatty deposits can affect your cardiovascular system, nervous system, and kidneys. This can cause a heart attack, stroke, kidney

Gaucher disease is an abnormality fat of storage. It is an increasingly genetic and very rare disorder that is most common in family members. The people who suffer the most, have consequences in the lack of of levels of a certain enzyme in the body. Because of this, a fatty lipid spreads throughout one’s human body. This disease is also known to be called lysosomal storage disorder. This type of disorder can cause symptoms to happen at any time of your life, whether it is childhood or adulthood. How can you get this disease? You can get it from parents who struggle with the cells in their body. “The enzyme that is not working well in Gaucher disease is called glucocerebrosidase. This enzyme helps the body break down glucocerebroside, a fatty

Fabry disease is a condition caused by a genetic mutation. It is passed down (inherited) from a parent who carries the gene mutation for Fabry disease. The gene mutation changes an enzyme that breaks down a certain type of lipid, called globotriaosylceramide, and prevents it from breaking down the lipid. This causes excess lipids to build up in cells in certain organs of the body and the nervous system.

Fabry disease is a rare X-linked lysosomal storage disorder caused by the absence or deficiency of hydrolase alpha-galactosidase A activity. As a consequence, accumulation of globotriaosylceramide occurs in a wide variety of cells throughout the human body. Specific gene mutations determine disease severity and different phenotypes

There are some simple things the parents may observe which will help to detect leukodystrophy diseases at early stages. The importance of recognizing Leukodystrophy in advance is to decelerate the spreading process of the disease. The abnormal eye movement is one of the methods that parents could notice and usually considered to be an unmanageable movement of the eyes in a strange way.2/3 Another way is when there is a walking pattern change without the patient control.2 For example, a long muscle contraction on one side which will cause a foot-dragging.4 Finally, changing in behaviour such as the child crying for a long time without any reason.2 In brief, Leukodystrophy diseases are dangerous conditions that are hard to detect and have a noticeable effect on the patient that people around could notice these effect such as abnormal eye movement, changing in walking pattern, and in

Acute Neuropathic Gaucher’s disease has a combination of afflictions. It has all of the underlying symptoms and signs as type-I, in addition an acute form of multiple neurological side effects where motor control in the throat, eyes, and throughout the rest of the body, often in the form of spams (Stein 2010) (Gauchers Foundation 2016) . The more prolonged symptoms that are found in the other forms of the disease are not as noticeable due to that fact that the person normally dies before time can take its toll. These acute neurological problems are often the cause of death with-in the first 2-4 years of life. Sources have suggested that there is no connection between the disease and ethnic lineage (Agamanolis

When trying to implement a new practice, there are several tools that must be considered to use. First, you must ask a focused clinical question, searching literature is another important component, screening your findings, appraising each article’s findings, and applying the findings. There are many different types of articles, such as: diagnosis articles, prognosis articles, harm articles, and meta-analysis articles. Having the appropriate literature to support your new practice

According to Inderjeet Dokal there are currently 13 known variations of genes that cause FA and they are as follows: “FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, and FANCN” (Dokal, 2008). Dokal and many other doctors agree that FA is a very penetrant genetic disorder. That is, all of these subtypes of the FA gene can cause many of the different types of cancer and bone marrow deficiencies that are associated with FA. For example, in the list given by Dokal, the subtype FANCA is known to express as a gene that controls certain aspects of protein coding. This one genetic subtype causes breakdowns in the various checkpoints throughout the cell cycle. As you can imagine, this one gene can destroy