Huntington’s disease, or Huntington’s chorea, is a progressive neurodegenerative disease of the central nervous system that is genetically inherited through an autosomal dominant trait. (Webster) It is caused by a mutation on the huntingtin protein where the CAG repeat region is elongated. CAG is responsible for coding glutamine. This mutation causes many devastating effects and is ultimately fatal. There is no known cure. The disease results in many symptoms, including chorea, which is characterized by irregular and involuntary movement of the body. The disease causes neurodegeneration in the brain, including the caudate, putamen and the cortex. This will cause cognitive decline as the disease progresses further. Additionally, weight loss is a common feature of Huntington’s disease, and it is very difficult for HD patients to maintain appropriate body weight. Issues with mitochondrial dysfunction and energy metabolism are also seen, including lack of ATP production in muscle, decreased activity of the electron transport chain, and compromised energy metabolism in both the brain and ...
In order to study the gene mutation that is supposed to cause Paget’s Bone Disease researchers had to have viable candidates to host the gene mutation. They found the best candidate to host the gene mutation in mice so they implanted the gene mutation in embryos of mice offspring. The researchers hypothesized that p62P394L is sufficient to induce PDB, especially since the p62 gene is responsible for encoding 62 kDa protein which functions in signaling osteoclast precursors. Results were found by fixing the first through fifth lumbar vertebra of four, eight, and twelve month old homozygote, heterozygote and WT littermates in 10% buffered formalin for 24- 48 hours. The first through fourth vertebra were then completely decalcified while the fifth was not. Longitudinal sections of both decalcified and undecalcified vertebra were cut, mounted on glass slides and stained to analyze. The mice with p62P394L had histologically normal bones, indicating that p62 mutation is not enough to induce Paget’s disease of the bone in vivo, there are additional factors necessary. Knowing osteitis deformas is due to hyper responsive multinucleated osteoclasts, it seemed a sensible suggestion. However, there are many other variables that should be factored when considering possible causes for osteoclast hyperformation. If p62P349L is present, doesn’t necessarily mean a person will get PDB, though an environmental factor such as measles could easily open up transduction pathways that could eventually lead to pagetic bone lesions. We find this study to be a stepping stone for future researchers to use in order to actually identify what causes Paget’s bone disease. (Hiruma, Kurihara, Subler, Zhou, Boykin, Zhang, Ishizuka, Dempster, Roodman & Wi...
Cholesteatoma is a growth of excess skin or a skin cyst (epithelial cyst) that contains desquamated keratin and grows in the middle ear and mastoid (Thio, Ahmed, & Bickerton, 2005). A cholesteatoma can grow and spread, destroying the ossicles, tympanic membrane and other parts of the ear. They appear on the pars flaccida and pars tensa sections of the tympanic membrane. A cholesteatoma can occur when a part of a perforated tympanic membrane is pushed back into the middle ear space, debris and skin cells can build up forming a growth. It can obstruct tympanic membrane movement and movement of the ossicles. As the layers grow, the amount of hearing loss can increase. A cholesteatoma can be congenital (present at birth) or be acquired as a result of another disease. They can also be formed as a result of a surgery, trauma, chronic ear infection, chronic otitis media, or tympanic membrane perforation. It can develop beyond the tympanic membrane and cause intracranial and extracranial complications. Due to this patients can experience permanent hearing loss as a result of an infection of the inner ear as well as other serious health concerns. These include dizziness, facial nerve weakness and infections of the skull (Hall, 2013). Patients may present chronically discharging ear, hearing loss, dizziness, otalgia (ear pain), and perforations (marginal or attic).
In Caucasia, by Danzy Senna, Birdie spends time in several different racial contexts and, in each one, adjusts the racial definition of herself. Through this process, she discovers much about the conception of race in contemporary American society and achieves the nuanced understanding that race, while merely a construction, is still (operationally) real. This is contrasted by the more dangerous, oversimplified understanding of race – that races are biological rivals, inherently different and unable to coexist without some sort of power structure – embodied by the character of Redbone, who is also a symbol of inauthenticity. This latter aspect of Redbone shows the emptiness inherent in the views he holds about race, an important reason for his inclusion in the novel.
Hypokinetic Dysarthria is a motor speech disorder that is often associated with Parkinson’s disease (PD). It can occur when there is interference in the basal ganglia control circuit. These disruptions can include “degenerative, vascular, traumatic, infectious, inflammatory, neoplastic, and toxic-metabolic diseases (Duffy, 2013, p. 176).” Damage to the basal ganglia control circuit results in reduced range of motion as well as the inability to inhibit involuntary movements. Hypokinetic dysarthria is most commonly caused by PD; a progressive, neurogenic disease that is characterized by tremor, rigidity, slowness of movement, and incoordination. Eighty-seven percent of hypokinetic dysarthria cases are associated with degenerative disease (Duffy, 2013).
Paget’s disease (PD), also known as osteitis deformans, is considered to be an osteometabolic disorder. It can be described as a focal disorder of accelerated and disorganized skeletal remodeling that may affect multiple bones in the body, giving rise to progressive enlargement and deformity of the bones and joints.1 PD is prevalent across both the sexes with incidence ranging from 1.5% to 8%.2 It is more common in individuals over 50 years of age.
The symptoms of Huntington’s disease increase slowly and last until death. Chorea is one of
Ataxic dysarthria is one of several types of dysarthria. “Dysarthria is a group of motor speech disorders resulting from disturbed muscular control of the speech mechanism due to damage of the peripheral or central nervous system” (Hedge, 2001, p. 198). In specific, ataxic dysarthria is a disorder that affects the control of speech production due to damage to the cerebellum or the neural pathways that connect the cerebellum to other parts of the central nervous system.
Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the only important manifestation of the disease but several non-motor symptoms are also associated with this disease.[1]
The cause of this is caused by a defect on chromosome 4. This gene is in control for building proteins called huntingtin. Chromosome is a construction of nucleic acids and protein. It brings genetic information in the form of genes. The defect on the gene defines that specific proteins are required to make brain substances that can’t be prepared in the brain normally. This is also the result to the harm and loss of brain cells and some portions of the brain. Also there a collection of chemical called dopamine. This also causes movement problems. This damage this leads to the symptoms to the disorder known as Huntington’s disease. (Patient.Co.Uk, 2011).
Parkinson’s disease is “Characterized by the degeneration of the substantia nigra within the basal ganglia, causing a gradual decrease of the neurotransmitter dopamine” (Webb & Adler, 2008, p. 296). This disease is yet to have a known cause, although researchers are working hard in search of one. In other words, Parkinson’s disease is described as a dopamine deficiency in the caudate nucleus and the putamen (Webb & Adler, 2008, p. 176), and an excess amount of acetylcholine, a neurotransmitter. There is no answer as to why there is a breakdown of these nerve cells that cause Parkinson’s disease. Researchers are pointing to genetic and environmental factors that may be the cause (The Michael J Fox, n.d.).
Dementia can occur in relation to many different illnesses. Some of the most common of which are Huntington’s Disease,
Bone diseases most directly influence the ability to walk or to move any part of the body--hands, limbs, neck, and spine. They are related to joint disorders--ARTHRITIS, COLLAGEN DISEASE, DISLOCATION of joints, and RHEUMATISM. The medical specialty pertaining to bone disorders is ORTHOPEDICS. Fractures are the most common bone disorders. They can occur as the result of an accident or be secondary to metabolic diseases.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Huntington’s disease is caused by an abnormal dominant gene. Also called Huntington’s chorea, it is a complex disorder that affects a person capability to feel, think and move. The symptoms of Huntington’s disease consist of mood swings, irritability, depression, and anger. These symptoms are likely to worsen and the disease a lot of times runs in the family. If people have at least one parent with Huntington’s disease, the chances of them inheriting it are 50-50 chance. There is also a 50-50 chance that, that same person could pass the faulty gene on to their future child. This pattern of inheritance is called "autosomal dominant". The disease could also affect a person’s judgment and other mental functions. In some cases the person could
Dementia is an organic brain syndrome which results in global cognitive impairments. Dementia can occur as a result of a variety of neurological diseases. Some of the more well known dementing diseases include Alzheimer's disease (AD), multi-infarct dementia (MID), and Huntington's disease (HD). Throughout this essay the emphasis will be placed on AD (also known as dementia of the Alzheimer's type, and primary degenerative dementia), because statistically it is the most significant dementing disease occurring in over 50% of demented patients (see epidemiology).