Adult Huntington woman

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Huntington's disease facts. Huntington's disease HD is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness or balance problems.

Later, HD can take away the ability to walk, talk or swallow. Some people stop recognizing family members. Others are aware of their environment and are able to express emotions. If one of your parents has Huntington's disease, you have a chance of getting it. A blood test can tell if you have the HD gene and will develop the disease.

Genetic counseling can help you weigh the risks and benefits of taking the test. There is no cure. Medicines can help manage some of the symptoms, but cannot slow down or stop the disease. What is Huntington's disease? Chorea1 is derived from the Greek word for dance and describes the uncontrollable dance-like movements seen in people with HD.

The hereditary nature of HD helps distinguish it from other types of chorea with infectious, metabolic, or hormonal causes. Understanding the hereditary nature of HD eventually enabled modern researchers to pinpoint the cause of the disease—a mutation or misspelling in a single gene. More than 30, Americans have HD. Although the mutation is present from birth, symptoms of HD typically appear in middle age adult HD , and in rare cases they appear in children juvenile HD.

The disease, which gets progressively worse, attacks motor control regions of the brain, as well as other areas. Chorea, abnormal body postures, and impaired coordination are among the most visible symptoms. But HD also causes changes in emotion and cognition thinking that can be devastating for people with the disorder and for their families. Although there is no cure for HD, treatments are available to help manage its symptoms and other potential treatments are under investigation to slow or stop its course.

And there are now genetic tests available for HD, which gives people at risk for the disease the option to plan for their health and the health of future generations. How does Huntington's affect the brain? The most severe loss of nerve cells also called neurons occurs in deep brain structures called the basal ganglia, especially in a part of the basal ganglia called the striatum.

The basal ganglia have a variety of functions, including helping to control voluntary intentional movement. Subsections of the basal ganglia, called the caudate nuclei and putamen, are most severely affected. As HD progresses over time, neuronal degeneration becomes more widespread throughout the brain. In addition to metabolic changes, there is degeneration in areas of the brain that control hormones. How is Huntington's inherited? HD is passed from parent to child through a mutation in a gene. Genes contain the blueprint for who we are, from our outer appearance to the composition and workings of our internal organs, including the brain.

The gene responsible for HD lies on chromosome 4. When a parent has HD, each child has a 50 percent chance of inheriting the copy of chromosome 4 that carries the HD mutation. If does not inherit the HD mutation, he or she will not develop the disease and cannot pass it to subsequent generations.

In some families, all the children may inherit the HD gene; in others, none do. Whether one child inherits the gene has no bearing on whether others will or will not share the same fate. A person who inherits the HD mutation and survives long enough will develop the disease. To understand the HD gene mutation, it helps to know a little more about what genes are and what they do. Genes contain the instructions for making the approximately one million proteins that run everything in our bodies. The HD gene makes an essential protein called huntingtin , whose function is largely unknown but may be necessary for early nerve cell development.

Huntingtin is most active in the brain. Genes are composed of deoxyribonucleic acid DNA , a long chain-like molecule. The links in a DNA chain are called bases, or nucleotides, and there are four varieties—adenine, thymine, cytosine, and guanine—typically abbreviated as A, T, C, and G. The disease-causing mutation inside the HD gene consists of a three-base sequence repeated many times. This type of mutation, called a triplet or trinucleotide repeat expansion, is responsible for dozens of other neurological diseases, but in each case the three-base sequence, or triplet, resides within a different gene.

Individuals with the disease may have 36 or more repeats. People who have repeats in the intermediate range are unlikely to develop the disease, but they could pass it on to future generations. When HD occurs without a family history, it is called sporadic HD. These cases can occur when one parent has an intermediate range of CAG repeats, sometimes called a premutation. Prior to conception of , the of repeats may expand into the disease-causing range. This increase in disease severity from one generation to the next—with a younger onset and faster progression—is called anticipation.

What are the major symptoms and s of Huntington's? Early s of the disease vary greatly from person to person, but typically include cognitive or psychiatric symptoms, difficulties with movement, and behavioral changes. Behavioral changes. The individual experiences mood swings or becomes uncharacteristically irritable, apathetic, passive, depressed , or angry.

These symptoms may lessen as the disease progresses or, in some individuals, may continue and include hostile outbursts, thoughts of suicide , deep bouts of depression , and, rarely, psychosis. Social withdrawal is common. Early s might include having trouble with driving, problem-solving or decision making, prioritizing tasks, and difficulty organizing, learning new things, remembering a fact, putting thoughts into words, or answering a question.

Familiar tasks that were simple to complete when healthy now take longer or cannot be done at all. As the disease progresses, these cognitive problems worsen and affected individuals are no longer able to work, drive, or care for themselves. When the level of cognitive impairment is ificant enough to impair daily functioning, it is described as dementia.

Many people, however, remain aware of their environment and are able to express emotions. Some individuals cannot recognize other family members. Uncontrolled and difficult movement. Movement problems may begin with uncontrolled movement in the fingers, feet, face, or trunk. These movements, which are s of chorea, often intensify when the person is anxious or distracted and become larger and more apparent over time.

HD can also begin with mild clumsiness or problems with balance. Some people develop chorea-related movements. Chorea often creates serious problems with walking , increasing the likelihood of falls. Some individuals with HD do not develop chorea; instead, they may become rigid and move very little, or not at all, a condition called akinesia.

Others may start out with chorea but become rigid as the disease progresses. In addition to chorea, some individuals have unusual fixed postures, called dystonia. The two movement disorders can blend or alternate. Other symptoms may include tremor unintentional rhythmic muscle movement in a back-and-forth manner and abnormal eye movements that often occur early. Physical changes. Speech becomes slurred and vital functions, such as swallowing, eating, speaking, and especially walking, continue to decline.

Many people with HD lose weight as they encounter problems with feeding, swallowing, choking, and chest infections. Other symptoms may include insomnia , loss of energy, and fatigue. Some individuals with HD develop seizures. Eventually the person will be confined to a bed or wheelchair. In general, the duration of the illness ranges from 10 to 30 years. The most common causes of death are infection most often pneumonia and injuries related to falls. At what age does Huntington's appear? The rate of disease progression and the age at onset vary from person to person. As a general rule, having a higher of CAG repeats is associated with an earlier onset and faster course of the disease.

A common observation is that the earlier the symptoms appear, the faster the disease progresses. Adult-onset HD most often begins between ages A few individuals develop HD after age Diagnosis in these people can be very difficult. The symptoms of HD may be masked by or confused with other health problems, or the person may not display the severity of symptoms seen in individuals with HD of earlier onset.

These individuals may also show symptoms of depression rather than anger or irritability, or they may retain sharp control over their intellectual functions, such as memory, reasoning, and problem-solving. There is also a related disorder called senile chorea. Some elderly individuals develop choreic movements, but do not become demented, have a normal HD gene, and lack a family history of the disorder. Some scientists believe that a different gene mutation may for this small of cases, but this has not been proven.

Some individuals develop symptoms of HD before age This is called early-onset or juvenile HD. A common early of juvenile HD is a rapid decline in school performance. Movement problems soon become apparent, but they differ from the chorea typically seen in adult-onset HD. One common motor symptom in juvenile HD is myoclonus, which involves rapid involuntary muscle twitches or jerks.

Other motor symptoms typical in juvenile HD include slowness, rigidity in which the muscles remain constantly tense , and tremor. People with juvenile HD may also have seizures and mental disabilities. The earlier the onset, the faster the disease seems to progress. The disease progresses most rapidly in individuals with juvenile or early-onset HD, and death often follows within 10 years.

Individuals with juvenile HD usually inherit the disease from their fathers, who typically have a later onset form of HD themselves. To verify the link between the of CAG repeats in the HD gene and the age at onset of symptoms, scientists studied a boy who developed HD symptoms at the age of two, one of the youngest and most severe cases ever recorded. They found that he had nearly repeats. This correlation has been confirmed in other studies. How is HD diagnosed?

Neurological tests. A neurologist will interview the individual intensively to obtain the medical history and rule out other conditions. Tests of neurological and physical functions may review reflexes, balance, movement, muscle tone, hearing , walking, and mental status. A tool used by physicians to diagnose HD is to take the family history, sometimes called a pedigree or genealogy. It is extremely important for family members to be candid and truthful with a professional who is taking a family history since another family member s may not have been accurately diagnosed with the disease but thought to have other issues.

Genetic tests. The presence of 36 or more repeats supports a diagnosis of HD. A test result of 26 or fewer repeats rules out HD.

Adult Huntington woman

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What is Huntington disease?