Huntington disease hd falls into the differential diagnosis of chorea, dementia, and psychiatric disturbances. Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability cognition adultonset huntington disease, the most common form of this disorder, usually appears in a persons thirties or forties. For people whose family members have had huntingtons disease, they can take a genetic test to determine if they are at risk. Parkinsons disease huntingtons disease, hereditary, acute disturbance of the central nervous system usually beginning in middle age and characterized by involuntary muscular movements and progressive intellectual deterioration.
The hereditary and debilitative nature of the disease means that many people are involved either directly or indirectly by this condition. Huntington s disease has a broad impact on a persons functional abilities and usually results in movement, thinking cognitive and psychiatric disorders. This book breaks down some of the more difficult behavioral issues associated with having huntingtons disease and suggests several approaches to solving them. In the whole range of medical terminology there is. The movement disorders associated with huntingtons disease can include both involuntary movement problems and impairments in voluntary movements, such as. This book is the authors journey as wife, mother, breadwinner, caregiver and widowspouse survivor of huntingtons disease.
If the child inherits the gene, hd symptoms will develop. In japan, a much lower prevalence of about onetenth of prevalence of the caucasion population is described. In 1872, physician george huntington reported a familial form of chorea noted previously on long island by his father and grandfather, also physicians. On average, the disease leads to death about fifteen years after the first signs of the illness show. A case study describing the complexities and nuances of predictive testing of monozygotic twins audrey heimler and andrea zanko2 when a candidate for predictive testing for the huntington disease gene is a monozygotic twin, confidentiality of the co. After describing how hd affects brain circuitry as the disease progresses, paulsen connects problems such as apathy, impulse control, and irritability to the neurodegeneration. The journal of huntingtons disease is an international multidisciplinary journal to facilitate progress in understanding the genetics, molecular correlates, pathogenesis, pharmacology, diagnosis and treatment of huntingtons disease and related disorders. List of books and articles about huntingtons disease. George huntington originally discovered hd in 1872.
Huntington disease was formerly known as huntington chorea since the most obvious symptoms involve uncontrollable body movements known as chorea. People are born with the defective gene, but symptoms usually dont appear until middle age. Researchers have developed a novel measure of disease progression for huntingtons disease, which enabled them to identify a genetic modifier associated with how rapidly the. The cooccurrence of alzheimer disease and hd has also been reported davis et al 2014. Prevalence in the caucasian population is estimated at 110,0001. This can lead to problems with moving, memory loss as well as thinking skills.
Home browse science and technology health and medicine diseases and disorders huntington s disease. Huntington disease definition of huntington disease by. This book also addresses behavioral and cognitive symptoms, brain imaging, and family dynamics and therapeutic alliances in working with individuals affected by hd. This fourth edition of huntingtons disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002. Huntingtons disease has a broad impact on a persons functional abilities and usually results in movement, thinking cognitive and psychiatric disorders. Huntingtons disease hd is an inherited disease that causes certain nerve cells in the brain to waste away.
Essay about huntingtons disease 1557 words bartleby. Publications product categories huntingtons disease. Huntingtons disease, often abbreviated as hd, is a brain disease that causes nerve cells in the brain to deteriorate. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Huntingtons disease symptoms and causes mayo clinic. Working with mouse, fly and human cells and tissue. Apparent sporadic huntingtons disease occurs in 68% of new cases of the disease,w11 w12 and it can also be caused by unexpected or unknown paternity, or a parent dying before they develop symptoms of the disease. With the help of a health care team, people with huntingtons can live independently for many years. Such changes, unlike chorea, directly impair function, a finding that is, in part, indicated by the modern preference for the terminology huntingtons disease rather than huntingtons chorea.
People at risk of inheriting the faulty hd gene can have genetic testing done to. Disturbances of both involuntary and voluntary movements occur in individuals with hd. Definition huntington disease hd is a progressive neurodegenerative disease causing uncontrolled physical movements and mental deterioration. Huntingtons disease is a genetically inherited condition which results in severe nervecell damage in the brain. Pestka is a clinical nurse specialist and an assistant professor of nursing at the mayo. The difference in prevalence rates among different populations is attributed to variations in genetic risk factors. A person who has the faulty hd gene has a 50% chance of passing it on to each of their children. Involuntary jerking or writhing movements chorea muscle problems, such as rigidity or muscle contracture dystonia slow or abnormal eye movements.
Discover librarianselected research resources on huntington s disease from the questia online library, including fulltext online books, academic journals, magazines, newspapers and more. Often presents in midlife but may appear at any age. Adultonset huntington disease, the most common form of this disorder, usually appears in a persons thirties or forties. Huntingtons disease, hereditary, acute disturbance of the central nervous system usually beginning in middle age and characterized by involuntary muscular movements and progressive intellectual deterioration. It is about creating awareness and giving the families affected by huntingtons disease a voice to a situation that few understand including friends, family, co. Huntington disease hd is an autosomaldominant disorder, characterized as disease of progressive brain degeneration in late adulthood with subsequent brain atrophy. The volume includes all major areas of huntington disease clinical care and research, whereas many other hd texts focus solely on neurological symptoms.
Sportsman is a staff nurse in the medical psychiatric program and elizabeth l. Huntingtons disease and laboratory investigation of this disease. Huntington disease synonyms, huntington disease pronunciation, huntington disease translation, english dictionary definition of huntington disease. Huntingtons disease is an inherited disease that causes the progressive breakdown degeneration of nerve cells in the brain. Neurobiology of huntingtons disease ncbi bookshelf.
However, many people would not rather take the test because of. It is important, howe ve r, that the person who is thinking about being tested make an info r m e. Huntingtons disease article about huntingtons disease by. Huntingtons disease background huntingtons disease is inherited as an autosomal dominant disease that gives rise to progressive, elective localized neural cell death associated with choleric movements uncontrollable movements of the arms, legs, and face and dementia. Genetic modifier for huntingtons disease progression. Disease and pathology lyme disease, or lyme borreliosis, is an emerging infectious disease transmitted by ticks. Huntingtons disease, or huntingtons chorea, is a progressive genetic disease marked by death of brain cells coupled with loss of muscular control and coordination, declining mental abilities, and erratic behavior.
Huntington disease hd, also called huntington s disease, is a rare, incurable genetic disease that results in the progressive degeneration of both physical and mental abilities. Today, huntingtons disease is treatable, but it is still a devastating disease that has no cure, but researchers are working on longterm treatment for the disease. Hd was originally known as huntingtons chorea, coming from a greek word meaning to. Huntingtons disease is a rare neuropsychiatric disorder with a prevalence of 510 per 100,000 in the caucasian population. Huntingtons disease offers introduces this disease, detailing its history and progression, and discusses the search for the gene that. Understanding behavior in huntingtons disease by jane s. In huntingtons disease, traffic jams in the cells control center kill brain cells date. Recently, several phenocopies have been described, all of which have an even lower prevalence see paragraph on differential diagnosis. Huntington disease hd is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Huntingtons disease a shadow of love doesnt have arms to embrace you, to make you feel wanted and secure. As a result of the adverse effects on the mind and lifestyle, there is an ongoing debate regarding. Lyme disease is considered an emerging infectious disease because its incidence has increased over the past 20 years, and it was. Inside the obriens by lisa genova, eternal on the water by joseph monninger, you me everything by catherine isaac. Research paper on huntingtons disease sample essays.
Research paper on huntingtons disease 10 october 2016 huntingtons disease is a hereditary brain disorder that is progressive in neurodegeneration. Chorea, an involuntary movement disorder consisting of nonrepetitive, nonperiodic jerking of limbs, face, or trunk, is the major sign of the disease. Each individual in a fa m i l y with hd will feel diffe r ently about testing. Drawing on the expertise of key researchers in the field, the book discusses the basic neurobiology of huntingtons disease. The disease was discovered by george sumner huntington 18501916, an ohio doctor who first described the hereditary movement disorder in 1872. Huntingtons disease can attack just about anyone, but it is involved in the genetics of a family. Clinical manifestations include chorea, cognitive decline, loss of coordination, and personality change.
Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble. Chorea is one of the main symptoms of huntingtons disease. Understanding the role of genetics can help you recognize huntington disease in a patient with progressive motor disability. We have collaborated with st andrews healthcare to launch a mini guide to understanding the effects of huntingtons disease. The affected areas of degeneration are the basal ganglia, which play an important role in the control of movement.
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