Juvenile Huntington's Disease Quick Facts:
Cause :
* HD allele with large number of repeats, usually inherited from father
Age of onset :
* Before 20 Years
Number of CAG repeats :
* Usually above 55, sometimes over 100
Signs of Onset :
* Decline in school performance
* Behavioral problems
* Movement difficulties
* Personality changes
Symptoms :
* Rigidity
* Seizures
* Dementia
* Speech
* Swallowing Problems
Treatments :
* Anticonvulsant (Seizure) Drugs
* Physiotherapy
Affected Brain Areas :
* Caudate
* Putamen
* Globus Pallidus
* Cerebellum
Length of Disease :
* Less than 10 Years
Inheritance :
* 50/50 Chance of passing allele on to children
Juvenile Huntington's Disease Quick Facts: Stanford University
Huntington's Disease (HD) is a hereditary brain disorder that affects people of all races all over the world. It takes its name from Dr. George Huntington, a Long Island physician who published a description of what he called "hereditary chorea" in 1872. From the Greek word for "dance"= chorein. Chorea refers to the involuntary movements which are among the common symptoms of HD. Therefore Huntington's Disease was at first called Huntington's Chorea. But, because "Chorea" is only one symptom of the three which are characteristic for this disease, it was in later years called Huntington's Disease.
Until quite recently, little was known or published about HD. Yet in the last twenty
years, much has been learned about the causes and effects of HD and about treatment,
therapies and techniques for managing the symptoms of the disease. In 1993, after
a ten-
HD is a degenerative disease whose symptoms are caused by the loss of cells in a part of the brain called the basal ganglia. This damage to cells affects cognitive ability (thinking, judgment, memory), movement, and emotional control. Symptoms appear gradually, usually in midlife, between the ages of 30 and 50. However, the disease can strike young children (juvenile form) and the elderly.
In most cases, people can maintain their independence for several years after the
first symptoms of HD appear. A knowledgeable physician can prescribe treatment to
minimize the impact of the symptoms. Allied health professionals, such as social
workers, occupational and physical therapist, speech-
INHERITANCE
HD is a family disease for two reasons. First, it is passed from one generation to the next by the transmission from parent to child of a "mutated" (altered) gene. Each child of an affected parent has a one in two, or 50%, chance of inheriting the gene that causes HD, and is said to be "at risk". People who carry the gene will eventually develop Huntington's unless they die of some other cause before the onset of symptoms.
HD occurs in approximately 1 in 10.000 people in most "western" countries. In other countries the prevelance may be much lower.
Males and females have an equal chance of inheriting the gene from an affected parent.
Those who do not inherit the mutated gene will not develop the disease, nor will their children; HD does not "skip a generation". Genetic testing is available to determine whether or not a person carries the mutated gene for HD.
THE FAMILY
HD is also a family disease because of its impact on every family member. As the
disease progresses, the family role of the altered person will gradually change.
The spouse or partner will have to assume more and more of the housekeeping, decision-
Children and adolescents must face living with a mother or father who is ill and whose behaviour may be erratic. They may even be asked to participate in the parent's care. For parents, telling children about HD can pose difficult questions. Should a child/children be told about HD? If so, at what age. When is a child old enough to cope with the idea of being at risk for HD?
There are no easy answers, particularly since children develop at different rates and each family situation is different. Generally, it is a good idea to be as open as possible without being alarmist, and to convey the facts bit by bit. This way, a child can develop a gradual awareness of HD rather than being suddenly overwhelmed by information.
SYMPTOMS AND STAGES OF HD
Symptoms:
The symptoms of HD vary widely from person to person, even within the same family. For some, involuntary movements may be prominent even in the early stages. For others, these may be less evident and emotional and behavioral symptoms may be more obvious. The following are common features of HD.
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Depression, irritability, anxiety and apathy are often encountered in HD. Some people can experience depression for a period of months or even years before it is recognized to be an early symptom of Huntington's. Behavioral changes may include aggressive outbursts, impulsiveness, mood swings and social withdrawal. Sexual needs are often not present or extremely big. Control of ones temper is difficult and the patient shows often a demanding behavior. Often, existing personality traits will be exacerbated by HD, e.g. a person who had a tendency to be irritable will become more irritable. Schizophrenia and other serious psychiatric problems are uncommon in HD but do occur.
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Slight intellectual changes are often the first signs of cognitive disturbance. These
may involve reduced ability to organize routine matters or to cope with new situations.
Short-
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Physical symptoms may initially consist of "nervous" activity, fidgeting, twitching,
or excessive restlessness. Handwriting may change and facial grimaces may appear.
Day-
These initial symptoms will gradually develop into more marked involuntary movements
of the head, trunk and limbs -
Speech and swallowing can become impaired. Movements generally tend to increase during voluntary effort, stress or excitement and decrease during rest and sleep.
THE STAGES OF HD
Though the pattern and severity of symptoms vary from person to person, the course of HD can be roughly divided into three stages.
Early in the disease, manifestations include subtle changes in coordination, perhaps some involuntary movements, difficult thinking through problems, and often, a depressed or irritable mood. At this stage, medications are often effective in treating depression and other emotional symptoms. It is a good time to begin planning for the future. Financial plans should be made and legal documents drawn up.
In the middle stage, involuntary movements (chorea) may become more pronounced. A staggering gait can sometimes be mistaken for drunkenness. Speech and swallowing will begin to be affected. It is important to consult a speech therapist who will be able to offer suggestions and strategies for improving communication and swallowing abilities. Likewise, occupational and physical therapists can develop programs to help maintain the highest level of functioning and thereby improve quality of life.
Thinking and reasoning skills will also gradually diminish. At this stage it may
become increasingly difficult to hold a job and to carry out household responsibilities.
Here again, simple strategies may be employed to help decrease frustration, increase
functioning and prolong independence. For example, disorientation and short-
People with late stage HD may have severe chorea, but more often have become rigid. Choking on food becomes a major concern, as does weight loss. At this stage people with HD are totally dependent on others for all aspects of care, can no longer walk, and not able to speak.
Although cognitive abilities are severely impaired, it is important to remember that the person is generally still aware of his/her environment, remains able to comprehend language, and remains an awareness of loved ones and others. He/she may continue to enjoy looking at photographs and hearing stories of family and friends.
People do not die from HD itself but rather from a complication of the disease, such as choking or infection. Death generally occurs about 15 to 20 years after onset.
DIAGNOSIS
A clinical diagnosis of HD can only be accomplished by a comprehensive examination which generally entails a series of neurological and psychological exams and a detailed family history.
MRI (Magnetic Resonance Imaging) or CT (Computerized Tomography) scans may be included in the exam but the findings from these procedures are not sufficient to form a diagnosis.
Similarly, a genetic test may be used to help confirm, or rule out, a diagnosis of HD. However, a positive test result (indicating the presence of the HD gene) is not sufficient in and of itself to confirm a diagnosis of HD.
It is best to see a neurologist who is very familiar with HD, as the symptoms can mimic those of other disorders such as Parkinson's Disease or alcoholism. Referrals to knowledgeable professionals can be provided by your local or national HD organization.
For some, a diagnosis of HD can be a relief. It may provide an explanation for why their memory is not quite as sharp as it used to be or why they are feeling irritable or depressed. Others find the news very upsetting.
It is not uncommon for people to be in a state of "denial" when they are first diagnosed with HD. Regardless of their initial reaction, it can help to discuss the situation with others, either in a support group, with a social worker or with a counselor or therapist.
JUVENILE HUNTINGTON'S DISEASE
In approximately ten percent of cases, HD affects children or adolescents. Children
most often inherit the disease from their fathers (adult-
Initial symptoms usually involve slow, stiff and awkward walking and talking, choking,
clumsiness and falling. Later, the child may become slow to respond and performance
at school may become erratic. The course of the juvenile form is generally more rapid
than the adult-
BEING AT RISK FOR HD
Being at risk for HD affects different people in different ways. Some choose not
to think or talk about their at-
Being at risk for HD influences major life choices such as marriage, family planning
and carreer decisions. It can also have a pervasive influence on every day activities.
An episode of clumsiness, twitching or forgetfulness, such as everyone experiences
from time to time, may be seen as a potential symptom of HD and can take on nerve-
Many people come to accept the uncertainty of being at risk for HD, especially in
the absence of an effective treatment or cure for the disease. Indeed, faced with
the choice, most prefer to live with this uncertainty rather than taking a pre-
For others, genetic testing for HD offers a chance to end the uncertainty and to gain information which they believe will enable them to make informed choices about the future.
GENETIC TESTING
Soon after the HD gene was found in 1993, a test was developed which enabled people to find out if they were carrying the mutated HD gene that causes HD. Earlier tests were based on a process of "linkage analysis" which required blood samples from several family members. The new "direct gene test" is much more accurate and requires blood only from the individual taking the test.
The HD gene was found to contain a specific section that was expanded in people with
HD. In all people, this stretch of genetic material, or DNA, contains a pattern of
so-
By analyzing a person's DNA and counting the number of CAG's, it is possible to tell if that person will develop HD. The test cannot predict the age of onset, but the juvenile form has normally more than 50 repeats upto more than 120.
The decision to undergo genetic testing is an intensely personal one and one that
cannot be taken lightly. Everyone has their own circumstances to take into consideration,
and there are no "right" or "wrong" answers. Testing should never be forced upon
an at-
Various resources are or should be available to asssist you in making this decision. HD societies, social workers, genetic counselors at testing centers can help. Testing should only be done at (academic) testing centers where teams of professionals who are knowledgeable about HD are available.
The testing procedure involves sessions with various professionals. It typically
includes one session devoted to each of the following: genetic counseling, a neurologic
exam, a psychological interview, discussion of the results and follow-
The purpose of the preliminary sessions is to ensure that the person understands the potential implications of his/her genetic status and is prepared to receive the results. The neurologic exam will determine if any early symptoms of HD are present. If the person is found to be symptomatic, he/she will be offered the option of discontinuing the testing procedure.
It is important to note that presymptomatic testing for HD cannot determine when the disease will begin or its course or severity. People who test positive for the gene may remain healthy for many years. HD can only be diagnosed by a neurological exam.
Recognizing that medical, ethical, legal and social issues arise from the availability
of predictive testing, recommendations concerning the use of a predictive test for
the detection of HD were drawn up by a committee consisting of representatives of
the International Huntington Association and the Research Group on Huntington's Disease
of the World Federation of Neurology. These Guidelines, are approved and published
in Neurology 1994; 44: 1533-
TREATMENT
Treatment for HD takes many forms. While current treatments do not alter the course of HD, medications can be effective in treating common symptoms such as depression and anxiety. Involuntary movements can also be lessened by medication. Some drugs have significant side effects, however, so it is important that these be explained by the physician before the treatment begins.
Some doctors may prescribe drug treatment when it is not absolutely necessary. In many cases, people with HD do better when medication is kept to a minimum. Often, drugs that are effective at one stage of the disease may not be effective at another.
For these reasons, it is preferable to locate a neurologist with expertise in HD. Not all neurologists are familiar with the disease. Though a family physician is not likely to have much experience with HD, that physician should remain involved in ongoing care and treatment. The person with HD and family members play a critical role in monitoring and assessing the effectiveness of any care and treatment.
It is also helpful to consult a physician or occupational therapist and a speech therapist so that strategies that can have a positive and lasting impact on the quality of life can be implemented early.
Nutrition is important in everyone's life, but takes on added significance in HD. People with HD require an unusually high number of calories to maintain their body weight.
Maintaining, or even gaining, weight can help reduce involuntary movements and other symptoms, particularly in the later stages of HD. Nutritional supplements can help and a nutritionist can offer other valuable suggestions.
Often the best advice and emotional support one gets is from someone who "has been there".
The mutual support given and the knowledge shared are the reasons that many find HD support groups to be an important part of their lives. Support groups are located in many countries.
THE SEARCH FOR A CURE
The key to better treatments and an eventual cure for HD is research. There have been several exiting breakthroughs in recent years, notably the HD gene discovery of 1993. Since then certain brain proteins have been discovered which appear to interact with "huntingtin", the protein expressed by the HD gene. Research is under way to determine how these substances combine to cause the symptoms of HD, and to find ways of stopping this interaction as a possible means of treatment.
After the gene discovery, an international coalition of scientists, known as the Huntington Study Group (HSG), was formed to conduct basic and clinical research facilities with teams of doctors with expertise in treating HD. The group has begun to test new drugs which could potentially lead to effective treatment for HD.
For couples planning a family, prenatal testing of a fetus is also an option. A "nondisclosing"
variation of the prenatal test can also be done using linkage analysis (also called
"exclusion test"). Instead of examining the gene, this method of testing compares
patterns of chromosomal inheritance in several family members with the chromosomes
inherited by the fetus. In this way, the approximate risk that the fetus is carrying
the HD gene can be determined without disclosing the genetic status of the at-
(INTERNATIONAL HUNTINGTON ASSOCIATION)