Etiology: Huntington’s disease (HD) is progressive and causes nerve cells to break down within the brain (Huntington’s Disease Society of America, 2015). HD is an autosomal dominant genetic disorder therefore, if one parent has it, there is a 50/50 chance a child will inherit the gene (World Health Organization, 2015). Today, scientists are still working to find out more information about this genetic condition.
Epidemiology: This degenerative brain disorder affects both genders proportionally. The disease usually presents itself within mid-life however, it can manifest as early as two-years-old (World Health Organization, 2015). Today, approximately 30,000 Americans are symptomatic and death occurs 15-20 years following onset (Huntington’s
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Scientists do not know how HD demyelinates nerve cells (John Hopkins University, 2015). HD’s pathophysiology is still not clear among medical professionals and researchers. The Division of Neuropathology at John Hopkins University reports, “As valuable as they are, animal and cell models of HD are not enough on themselves to unravel the pathogenesis of HD and discover an effective treatment” (para. 1).
Clinical History: The clinical history presents with involuntary jerky movements of extremities and facial muscles that the individual can’t control (Stein, & Roose, 2000).
Signs and Symptoms: Individuals will present with signs and symptoms as: chorea, decline in executive functioning, loss of memory and recall, decreased judgment, mood alterations, anxiety, depression, and impulsivity (Alzheimer’s Association, 2015).
Medical Treatment: Currently, there is no treatment or cure for Huntington’s disease (World Health Organization, 2015).
Prognosis: Unfortunately, with no treatment or cure, the individual eventually becomes completely dependent on a care giver. With a FIM score of 1, an individual is at an increased risk for aspiration, infection, heart failure, and other secondary complications (Pendleton, & Schultz-Krohn,
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It is a progressive and a fatal disease that brings a vast amount of heartache to its victim, their family, and friends. Once an individual is tested and they are positive with the mutant gene, all occupational domains should be considered. A high emphasis should be placed on their context and environment as the disease presents itself. When the symptoms present themselves, the individual’s occupational engagement will be affected since chorea is a hallmark symptom of HD. All aspects of an individual’s activities of daily living will depend on a caregiver since HD presents with uncontrollable movements of the extremities and facial muscles. As the disease progresses, an individual will eventually be totally dependent on a caregiver since cognition will decline. Client factors will be affected as the brain atrophies and the central nervous system responds to the changes (Wittwer, Webster, & Hill, 2013). The domain of performance skills and patterns will be greatly affected due to dementia, behavioral changes, and chorea. The context and environment of an individual that has HD will need to be modified since HD has no cure and it is progressive. As the HD progresses, the clients functional mobility will diminish and will need a wheelchair. The environment would need to support the mobility of their wheelchair and adaptive
Huntington’s disease is a neurodegenerative disorder that slowly breaks down somatic tissues. This degeneration causes a mass amount of chorea, change in mental functioning, change in behavior, decreased memory, along with other serious psychological problems. Since the mechanism of the disease is still not fully understood, there is no cure for the disease, but there are several therapies and medications available. All of the medication and treatment available only help to manage symptoms; they are just stalling the progression of the symptoms but not the overall disease.
Huntington’s disease occurs from acquiring a defective gene IT15 found on chromosome four. A typical copy of this gene yields the protein huntingtin. However, when the defective gene is bigger than usual, it yields huntingtin in a larger quantity. The etiology becomes fickle when reasons concerning why this defective protein damages the portion of the brain that administers movement. Scientists reveal that the reasoning is due to a miniscule protein called Rhes, which is found in the brain portion that governs movement. Overall, the mutant protein huntingtin causes Huntington’s disease and the defective protein Rhes contributes, however more research and testing is needed to explicate how the Rhes protein augments the pathology. The pathology entails progressive degeneration of the spiny neurons within the basal ganglia, chiefly the putamen and caudate. As the disease advances, neuronal loss ensues in the
Huntington’s disease, named after George Huntington, was discovered in 1872. It is a neurological condition that is caused by an altered gene. This gene is passed from parent to child, but the disease cannot be seen until a later age. As the disease affects the brain by death of brain cells, the patient loses thinking. Also loss of physical and emotional functions such as walking, feeling pain, and lack of display of emotion. The symptoms start to appear when adults are around the age of 30 as well as up to 70. The most common symptom of Huntington’s is chorea. Chorea is where the body jerks, usually in the arms and legs. They may also experience difficulty speaking, swallowing, and focusing.
Huntington 's disease is a dynamic, neurological disorder. Tragically, it doesn 't demonstrate manifestations until people have reached they’re 30 's or more. 'Children whose parent 's have this genetic disorder have a 50-50 ' ( ) possibility of acquiring the trait.
Huntington’s disease is a progressive neurodegenerative disease that causes uncontrolled physical movements and mental deterioration. Huntington’s destroys the brain leading to changes in personality and even cognitive functioning. A faulty gene is responsible for this disease. This faulty gene generates a malformed protein which is accountable for the immediate damage. This damage leads to a slow decline and eventually death. Unfortunately there is no cure and only minor treatments to manage
Furthermore, the disease is caused by an HTT gene that has a mutation. The gene supplies instruction for the protein. However, the function of the detrimental disease is currently unknown, but it creates life changing effects on people’s neurons and nervous systems that are found in the brain. The gene,
Huntington’s disease, also known as Huntington’s chorea, is a rare pathology among the nervous system. With fewer than 200,000 US cases per year is an inherited condition in which nerve cells in the brain break down over a period of time. This disease will usually start to effect people when they are in their 30s or 40s. Huntington’s usually results in psychiatric symptoms, progressive movement and thinking. No cure to this disease exists but physical therapy, drugs, and talk therapy can help manage symptoms.
Huntington’s Disease (HD) is a genetically inherited, progressive, autosomal dominant, fatal neurodegenerative disease that’s characterized by behavioral difficulties, decline of cognitive abilities, abnormal involuntary movements (chorea), and muscle spasms (dystonia) (1). These characteristics help diagnose patients with HD, but a genetic test can be done to prove that one has the disorder. The gene responsible is that which produces the huntingtin protein in chromosome 4; the defect causes extra repeats of the chemical code (2).
Early motor disturbances of HD include abnormal eye movements, trouble with coordination and minor involuntary movements known as chorea (non-periodic jerking of limbs, face, or trunk). As the disease progresses, chorea becomes more pronounced,
Huntington’s disease (HD) is a fatal genetic neurodegenerative genetic disorder affecting the brain. It results in uncontrolled jerking movements (chorea), cognitive and behavioural changes. HD leads to incapacitation of the patient and ends fatal. However, death rarely results from HD itself. It is typically due to complications of HD. HD was originally called Huntington’s chorea, because of the involuntary movements that looked like jerky dancing. Chorea is the Greek word for dancing. The majority of HD patients start developing the disease around 30 to 40 or even later. If HD onsets before the age of 20, the condition is called juvenile Huntington’s disease. This form of HD has often expresses the symptoms different and progresses faster
Huntington’s Disease is a disease that kills off brain cells in adults. The disease is estimated to actively plague in 30,000 people in the United States, and leaves 150,000 people with a 50% chance of developing Huntington’s (Huntington’s Disease Statistics).
What is huntington's Disease? How can I get it? Should I be tested? Is there a cure? These are all really good questions a lot of people would ask about Huntington's Disease. Huntingtons Disease is a brain disorder in which you get from genetics. This means you can only get this disease if somone in your family has had it. Usually you start seeing the symptoms from the ages of 30-50. Huntington's Disease is deadly. I am 30 years old and my father had this disease. Should I get tested for it?
The topic that will be discussed and introduce is the neural disease knowns as Huntington’s Disease. The topic of Huntington’s Disease will be discussed about to get a much broader knowledge on the neural disease consist of ten pages. The first page will discuss the background and the history of Huntington’s Disease. What year was the neural disease founded and whom first discovered. The second page will discuss the biochemical basis of Huntington’s Disease and how it’s developed and what type of mutation happens for the disease to become onset or late offset. The third page will discuss the symptoms of Huntington’s Disease and when the disease symptoms develop and whether if it happens in youths or elderly. And what is the range of symptoms
Having Huntington's disease if very serious and over time can kill you. Huntington's disease is where your nerve cells in your brain slowly start to die off. When lots of your nerve cells die you get chorea. You’ll have random jerks in movement on the face, arms, neck. You will have a loss of mental function as well. This disease is genetically passed down too. The major cause is the abnormal huntingtin (mHtt) with more than 36 glutamine residues. The mHTT gene gives instructions for creating a protein called huntingtin. The gene's role is in the nerve cells in the brain. The symptoms of Huntington’s disease occur in personality, behavior and mental function. Common symptoms are hallucinations, depression, being irritable, not being able to remember, uncontrolled jerking movements. and loss of balance.
Huntington’s disease is caused by a mutation in the gene for a protein called huntingtin. The defect causes the cytosine, adenine, and guanine (CAG) building blocks of DNA to repeat many more times than is normal leading to a overproduction of this protein resulting