Chaac Disease

Each of the three types of Gaucher Disease affect many systems of the body. Type I of the disease, which is the most mild form and is most frequently seen, is the only form of Gaucher which does not affect the nervous system. Typically, the average age of onset for Type I Gaucher is 21 years (6) . Approximately 1 in 10 Ashkenazi Jews is heterozygous for type I. Although the condition is non-neuronopathic, patients can exhibit a wide array of symptoms ranging from increased spleen and liver volume, lung compression, a variety of bone problems including lesions, bone tissue death and pain, and anemia and easy bruising. Individuals with Type I Gaucher Disease typically have a life span of 6 to 80 years (5) . Within families, the severity of Type I of the condition varies immensely, thereby making it impossible to determine which family members will suffer from the most severe symptoms. Gaucher Disease is different from most other autosomal recessive conditions in that one of the nonfunctional glucocerebrosidase genes (which are characteristic of Gaucher Disease) is passed o1n to each of the patient's offspring, causing them all to be carriers. Among Ashkenazi Jews, it has been presumed that around 1 in 450 Ashkenazi Jews has two mutated copies of the glucocerebrosidase gene (4) .

NP- C1 develops as a result of mutations in the NPC1 gene, located on chromosome 18 at position 11.2. The NPC1 gene is involved in the production of proteins that are located within the membrane of compartments within the cell. As a result of the mutation, affected individuals are not able to breakdown cholesterol and other lipids, leading to their accumulation in cells, causing a buildup of fat (lipids) in

Fabry disease is an inherited disorder which is caused from abnormal deposit of globotriaosylceramide, a particular fatty substance, in blood vessel walls throughout the body. Some symptoms that may be noticed are pain in the hands and feet, small red spots normally found between belly and knees, cloudy vision, hearing loss, ringing in the ears, and a decreased ability to sweat. The only FDA approved treatment for this disease is enzyme replacement therapy (ERT). This replaces the enzyme that is not working correctly, which allows the body to break down fatty substances the way it should. This disease is passed down through genes from parents. You either were born without alpha-galactosidase A or it doesn’t perform its duty.

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

Doctors particularly look for balance difficulty, loss of proprioception, absence of reflexes, and signs of neurological problems (NINDS). Tests that aid in the diagnosis of the disease include electromyograms, nerve conduction studies, electrocardiogram, echocardiogram, blood tests, as well as magnetic resonance imaging, Electromyograms are used to measure the electrical activity of muscle cells, nerve conduction studies measure the speed in which nerve impulses are transmitted, electrocardiograms show the beat patterns of the heart, blood tests are used to look for elevated glucose levels and MRIs are used to provide images of the brain and the spinal cord. Genetic testing is preferred over these listed tests, because it gives a definite diagnosis. Patients with confirmed diagnoses Friedreich’s ataxia have shorten life expectancies. However, the disease itself does not prove to be fatal for most patients, the common cause of death is a heart condition that usually accompanies the disease. People with less severe symptoms of the disease can live well into their sixties or even older. The progression rate of the disease varies from person to person. Within 8-10 years following the onset of the symptoms, the patient is usually unable to walk (VMC). And generally between 10-20 years after onset, the patient will be confined to a wheel chair (NINDS). The

Chagas disease is caused by the protozoan parasite Trypanosoma cruzi, and about 7 million of people are infected in the endemic area of Latin America. Was discovered in 1909 by the Brazilian physician Carlos Chagas, and the infection occurs mainly by contact with de feces or urine of infected triatomine bugs, but there are other infection routes such as: congenital, transfusions, transplants and contaminated food. The Chagas disease has two stages, an acute and a chronic phase, in the acute stage the parasite can be found in the circulating blood and may be mild or asymptomatic. In the chronic phase, the parasites are in the heart and digestive muscles, most of infected people never develop Chagas-related, but a parcel of the infected suffer

Friedreich’s ataxia (FRDA) is an inherited disease named after Nikolaus Friedreich, who first described the disease in 1863 (National Ataxia Foundation, 2013). FRDA is autosomal recessive, meaning an individual only develops symptoms if there is a deficiency in both Frataxin genes. An individual with a deficiency in only one Frataxin gene is said to be a carrier and will not exhibit symptoms. FRDA affects the coordination of human’s movements. The disease affects the central nervous system, mainly the spinal cord and nerves that control muscle movement in the arms and legs. The disease is caused by a deficiency in the frataxin expression (Medline Plus, 2014). Symptoms of this disease normally occur between the ages of 5 and 15; and include difficulty walking, muscle weakness, speech problems, involuntary eye movements, scoliosis, and heart palpations. Individuals with this disease eventually have to use a wheelchair. At this point in time there is no cure for FRDA, except for treatment with medicines, braces, surgery, and physical therapy.

In 1937, a rare disease called Behcet 's Disease (BD) was first described by Dr. Hulusi Behcet, who is a dermatologist in Turkey. The disease is also known as Behcet 's syndrome and described by The American Behcet 's Disease Association (2014) as "a rare, chronic, autoimmune, autoinflammatory disorder" (American Behcet 's Disease Association [ABDA], 2014). The disease, recognized worldwide, can affect multiple systems in the human body and associated with morbidity and mortality. Dr. Hulusi Behcet (2014) first described the disease as "a triad of oral ulcers, genital ulcers and ocular inflammation" (ABDA, 2014). The epidemiology behind this disease indicates its prevalence in multiple countries. It is less prevalent in the United States and Western Europe. According to National Organization for Rare Disorders (2015),the highest prevalence rate, 80-370 cases per 100,000, of this disease is in Turkey, as well as in Japan, Korea, China, Iran and Saudi Arabia (National Organization for Rare Disorders [NORD], 2015). According to the National Institute of Arthritis and Musculoskeletal and Skin Disease, the disease affects more men than women in Middle Eastern and Asian countries. However, it affects more women than men in the United States (National Institute of Arthritis and Musculoskeletal and Skin Disease [NIAMS], 2015). It can develop in people of all ages but it tends to develop in people between the ages of 20 to 40.

This is a disease that kills the brain cells. The study made in Scripps research institute has shown that Marijuana is an excellent medical for this disease. Feature in the lifestyle fitness news the patient should be prescribed by a professional doctor the marijuana dose and you will be glad to see a great improvement once you take 2 weeks of the dose. The patient will never be the same again. Do not take over the counter prescriptions in such a

Lastly, the implication of treatments used will be discussed based on the recent research. This literature review will conclude with a concise discussion. In addition, it is important to compare the treatments used to control ASD.

There are four different types of methods to be used by an occupational therapy to treat their clients with motor control problems to enable clients’ functional movement, and independence. These methods are Rood, Brunnstrom, Neurodevelopmental(NDT) also known as Bobath’s, and Proprioceptive Neuromuscular Facilitation (PNF). These four methods have similarities according to their different perspectives on how clients are going to be treated with abnormal tones. These four methods are very helpful for OTs/OTAs to treat their clients. Examples of these dysfunctions are abnormal muscle tones such as; rigidity – antagonist and agonist are both working together, spasticity – hypertonic; and flaccidity – Hypotonic, as well as different abnormal reactions of the client such as; inability to do righting reactions, equilibrium reactions; and protective extension reactions. There are also two types of abnormal reflexes that the client might manifest if they have a CNS dysfunction and those are Asymmetrical Tonic Reflexes for an Infant, and Deep Tendon Reflex for an adult. Incoordination of Dorsal Column, Basal Ganglia, and Cerebellar are also examples of CNS Dysfunctions that the client might have. Using these 4 approaches, such as rood’s, brunnstrom’s, bobath’s and pnf, will help reduce all of those abnormal patterns and normalize tone, posture, and balance.

Chagas disease is an endemic infection in Latin America caused by the parasite Trypanosoma cruzi. Nowadays, it affects millions of people worldwide including thousands in Europe and Oceania. Megacolon, that represents the most frequent complication of the digestive chronic form, happens due to lesions of the enteric nervous system, followed by motility disorders. The neuronal lesions seems to initiate right in the acute phase and persist for a long period during the chronic phase, being that the mechanisms involved on such process are still debated. Among the cells of the immune system possibly involved in this pathological process, we emphasize the mast cell (MC), due to its well known role in the bidirectional communication between the immune

Vogt-Koyanagi-Harada (VKH) disease is a rare systemic inflammatory and autoimmune disease that is frequently associated with the ocular, auditory, integumentary, and neurologic manifestations (Lavezzo et al., 2016). In a 2016 study, researchers indicated that the origin of this disease has not been identified. However, it is suggested that VKH disease is caused by autoimmune disorder in which T-cells affect tissues that are rich in melanocytes. VKH disease is most commonly encountered in highly pigmented individuals such as the Hispanics, Asians, and Native Americans, and it appears to be slightly more predominant in females that males. (p. 2)

The case study, The Case of Tropical Disease and Its Treatment: Science, Society, and Economy explores the Chagas disease (diagnosis) and a possible alternative treatment. This essay will focus on the Chagas disease in depth covering concepts including background, treatment and alternative solutions/treatment. The objective of this essay is to identify diseases endemic to South America (Costa Rica), examine the Chagas disease (signs and symptoms, treatment, and control) and alternative treatment solutions, and formulate an implementation plan to control the Chagas disease throughout South America.

Chagas disease occurs in two stages. The severity and course of infection might be different in people infected at different times in life and in different ways. The first stage is the acute stage, which is characterized by the presence of chagomas. This stage lasts for the first few weeks or months of infection. It usually goes unnoticed because it is either asymptomatic, or the infected only exhibit signs/symptoms that are not entirely unique to the disease. This includes headaches, rash (chagomas), loss of appetite, fever, fatigue, body aches. The signs on physical examination may include mild hepatomegaly or splenomegaly and swollen glands. The most recognized marker of acute Chagas disease is called Romana’s sign, which refers to the swelling of the eyelids on the side of the face nearest the initial infection area (CDC, 2013). Even if these symptoms do occur, they usually fade away on their own, which is why the infection usually persists. If left untreated and/or unnoticed, the infected will end up in the chronic stage of the disease. In this stage, the infection may continue to remain silent for decades, or even throughout the entire life. 30% of infected in this stage will develop cardiac complications (cardiomyopathy, heart failure, cardiac arrest) or intestinal complications (megaesophagus, megacolon) (CDC, 2013). For most patients who develop a cardiac complication, it is too late and there is no treatment besides symptomatic.