Huntington's disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.
Most people with Huntington's disease develop signs and symptoms in their 40s or 50s, but the onset of disease may be earlier or later in life. When disease onset begins before age 20, the condition is called juvenile Huntington's disease. Earlier onset often results in a somewhat different presentation of symptoms and faster disease progression.
Medications are available to help manage the symptoms of Huntington's disease, but treatments can't prevent the physical, mental and behavioral decline associated with the condition.
Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly among affected people. During the course of the disease, some disorders appear to be more dominant or have a greater effect on functional ability.
Impairments in voluntary movements — rather than the involuntary movements — may have a greater impact on a person's ability to work, perform daily activities, communicate and remain independent.
Other common psychiatric disorders include:
Other changes in mood or personality, but not necessarily specific psychiatric disorders, may include:
Symptoms of juvenile Huntington's disease
When to see a doctor
Huntington's disease is caused by an inherited defect in a single gene. Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder.
With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent. A parent with a defective Huntington gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, therefore, has a 50 percent chance of inheriting the gene that causes the genetic disorder.
Autosomal dominant inheritance pattern
In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You only need one mutated gene to be affected by this type of ...
If one of your parents has Huntington's disease, you have a 50 percent chance of developing the disease. In rare cases, you may develop Huntington's disease without having a family history of the condition. Such an occurrence may be the result of a genetic mutation that happened during your father's sperm development.
After the onset of Huntington's disease, a person's functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from disease onset to death is often about 10 to 30 years. Juvenile onset usually results in death in fewer than 15 years.
The clinical depression associated with Huntington's disease may increase the risk of suicide. Some research suggests that the greater risk of suicide occurs before a diagnosis is made and in middle stages of the disease when a person has begun to lose independence.
Eventually, a person with Huntington's disease requires help with all activities of daily living and care. Late in the disease, he or she will likely be confined to a bed and unable to speak. However, a person's understanding of surroundings and interactions remain intact for a long time.
Common causes of death include:
Preparing for your appointment
If you have any signs or symptoms associated with Huntington's disease, you'll likely be referred to a neurologist after an initial visit to your family doctor.
A review of your symptoms, mental state, medical history and family medical history can all be important in the clinical assessment of a potential neurological disorder.
What you can do
You may want a family member or friend to accompany you to your appointment. This person can provide support and offer a different perspective on the effect of symptoms on your functional abilities.
What to expect from your doctor
Tests and diagnosis
A diagnosis of Huntington's disease is based primarily on your answers to questions, a general physical exam, a review of your family medical history, and neurological and psychiatric examinations.
Brain imaging and function
Genetic counseling and testing
The test won't provide information that is beneficial in determining a treatment plan.
Before undergoing such a test, consider seeing a genetic counselor, who can explain the benefits and drawbacks of learning test results.
Predictive genetic test
Some people may elect to do the test because they find it more stressful not knowing. Others may want to take the test before they make decisions about having children. Risks may include problems with insurability or future employment and the stresses of facing a fatal disease. These tests are only performed after consultation with a genetic counselor.
Treatments and drugs
No treatments can alter the course of Huntington's disease. But medications can lessen some symptoms of movement and psychiatric disorders. And multiple interventions can help a person adapt to changes in his or her abilities for a certain amount of time.
Medication management is likely to evolve over the course of the disease, depending on the overall treatment goals. Also, drugs to treat some symptoms may result in side effects that worsen other symptoms. Therefore, the treatment goals and plan will be regularly reviewed and updated.
Medications for movement disorders
Medications for psychiatric disorders
Instruction on appropriate posture and the use of supports to improve posture may help lessen the severity of some movement problems.
When the use of a walker or wheelchair is required, the physical therapist can provide instruction on appropriate use of the device and posture. Also, exercise regimens can be adapted to suit the new level of mobility.
Lifestyle and home remedies
Managing Huntington's disease is demanding on the person with the disorder, family members and other in-home caregivers. As the disease progresses, the person will become more dependent on caregivers. A number of issues will need to be addressed, and strategies to cope with them will evolve.
Eating and nutrition
Eventually, a person with Huntington's disease will need assistance with eating and drinking.
Managing cognitive and psychiatric disorders
Coping and support
A number of strategies may help people with Huntington's disease and their families cope with the challenges of the disease.
Planning for residential and end-of-life care
Creating legal documents that define end-of-life care can be beneficial to everyone. They empower the person with the disease, and they may help family members avoid conflict late in the disease progression. Your doctor can offer advice on the benefits and drawbacks of care options at a time when all choices can be carefully considered.
Matters that may need to be addressed include:
People with a known family history of Huntington's disease are understandably concerned about whether they may pass the Huntington disease gene on to their children. These people may consider genetic testing and family planning options.
If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor. A genetic counselor will discuss the potential risks of a positive test result, which would indicate the parent will develop the disease. Also, couples will need to make additional choices about whether to have children or to consider alternatives, such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.
Another option for couples is in vitro fertilization and preimplantation genetic diagnosis. In this process, eggs are removed from the ovaries and fertilized with the father's sperm in a laboratory. The embryos are tested for presence of the Huntington gene, and only those testing negative for the Huntington gene are implanted in the mother's uterus.
In vitro fertilization
With in vitro fertilization, the doctor uses a needle to remove eggs from the ovary (A). The eggs and sperm are combined in a petri dish (B) and placed in an incubator (C). If fertilization occurs, ...
Last Updated: 2011-05-05
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