Huntington’s disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington’s disease symptoms have a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders. Can I get life insurance if I have Huntington’s disease? Yes! You can purchase a guaranteed issue whole life insurance policy. There are NO questions asked. More on this below.
When the disease develops before age 20, the condition is called juvenile Huntington’s disease. An earlier emergence of the disease often results in a somewhat different set 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.
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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.
The movement disorders associated with Huntington’s disease can include both involuntary movement problems and impairments involuntary movements, such as:
- Involuntary jerking or writhing movements (chorea)
- Muscle problems, such as rigidity or muscle contracture (dystonia)
- Slow or abnormal eye movements
- Impaired gait, posture, and balance
- Difficulty with the physical production of speech or swallowing
Impairments involuntary 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.
Cognitive impairments often associated with Huntington’s disease include:
- Difficulty organizing, prioritizing or focusing on tasks
- Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration)
- Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity
- Lack of awareness of one’s own behaviors and abilities
- Slowness in processing thoughts or ”finding” words
- Difficulty in learning new information
The most common psychiatric disorder associated with Huntington’s disease is depression. This isn’t simply a reaction to receiving a diagnosis of Huntington’s disease. Instead, depression appears to occur because of injury to the brain and subsequent changes in brain function. Signs and symptoms may include:
- Feelings of irritability, sadness or apathy
- Social withdrawal
- Fatigue and loss of energy
- Frequent thoughts of death, dying or suicide
Other common psychiatric disorders include:
- Obsessive-compulsive disorder — a condition marked by recurrent, intrusive thoughts and repetitive behaviors
- Mania, which can cause elevated mood, overactivity, impulsive behavior and inflated self-esteem
- Bipolar disorder — a condition with alternating episodes of depression and mania
In addition to the above symptoms, weight loss is common in people with Huntington’s disease, especially as the disease progresses.
Symptoms of juvenile Huntington’s disease
The start and progression of Huntington’s disease in younger people may be slightly different from that in adults. Problems that often present themselves early in the course of the disease include:
- Loss of previously learned academic or physical skills
- Rapid, significant drop in overall school performance
- Behavioral problems
- Contracted and rigid muscles that affect gait (especially in young children)
- Changes in fine motor skills that might be noticeable in skills such as handwriting
- Tremors or slight involuntary movements
See your doctor if you notice changes in your movements, emotional state or mental ability. The signs and symptoms of Huntington’s disease can be caused by a number of different conditions. Therefore, it’s important to get a prompt, thorough diagnosis.
Autosomal dominant inheritance pattern
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 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.
After the start 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 emergence to death is often about 10 to 30 years. Juvenile Huntington’s disease usually results in death within 10 years after symptoms develop.
The clinical depression associated with Huntington’s disease may increase the risk of suicide. Some research suggests that a greater risk of suicide occurs before a diagnosis is made and in the 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, he or she is generally able to understand language and has an awareness of family and friends.
Common causes of death include:
- Pneumonia or other infections
- Injuries related to falls
- Complications related to the inability to swallow
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 the presence of the Huntington gene, and only those testing negative for the Huntington gene are implanted in the mother’s uterus.
I co-0wn a physical therapy practice and before I went into the insurance business, physical therapy was my full-time job. I still see some patients every week to help them rehab. Let’s take a look at Huntington’s disease diagnosis process and some of the medications and treatments available.
A preliminary 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.
The neurologist will ask you questions and conduct relatively simple tests in the office to judge:
- Muscle strength
- Muscle tone
- Sense of touch
- Vision and eye movement
- Mental status
The neurologist may also perform standardized tests to assess:
- Mental agility
- Language function
- Spatial reasoning
You’ll likely be referred to a psychiatrist for an examination to judge a number of factors that could contribute to your diagnosis, including:
- Emotional state
- Patterns of behaviors
- Quality of judgment
- Coping skills
- Signs of disordered thinking
- Evidence of substance abuse
Brain imaging and function
Your doctor may order brain-imaging tests for assessing the structure or function of the brain. The imaging technologies may include magnetic resonance imaging (MRI) or computerized tomography (CT) scans that provide detailed images of brain structures.
These images may reveal structural changes at particular sites in the brain affected by Huntington’s disease, although these changes may not be apparent early in the course of the disease. These tests can also be used to rule out other conditions that may be causing symptoms.
Genetic counseling and testing
If symptoms strongly suggest a diagnosis of Huntington’s disease, your doctor may recommend a genetic test for the defective gene.
This test can confirm the diagnosis, and it may be valuable if there’s no known family history of Huntington’s disease or if no other family member’s diagnosis was confirmed by a genetic test. But the test won’t provide information that might help determine a treatment plan.
Before undergoing such a test, the genetic counselor will explain the benefits and drawbacks of learning test results. The genetic counselor can also answer questions about the inheritance patterns of Huntington’s disease.
Predictive genetic test
A genetic test can be given to someone who has a family history of the disease but shows no signs or symptoms. This is called predictive testing. The test result has no treatment benefit, and it doesn’t indicate when disease onset will begin or what symptoms are likely to appear first.
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. In principle, federal laws exist that make it illegal to use genetic testing information to discriminate against people with genetic diseases.
These tests are only performed after consultation with a genetic counselor. Huntington’s disease treatment options.
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
Drugs to treat movement disorders include the following:
- Tetrabenazine (Xenazine) is specifically approved by the Food and Drug Administration to suppress the involuntary jerking and writhing movements (chorea) associated with Huntington’s disease. A serious side effect is a risk of worsening or triggering depression or other psychiatric conditions. Other possible side effects include drowsiness, nausea, and restlessness.
- Antipsychotic drugs, such as haloperidol (Haldol) and chlorpromazine, have a side effect of suppressing movements. Therefore, they may be beneficial in treating chorea. However, these drugs may worsen involuntary contractions (dystonia) and muscle rigidity. Other drugs, such as risperidone (Risperdal) and quetiapine (Seroquel), may have fewer side effects but still should be used with caution, as they may also worsen symptoms.
- Other medications that may help suppress chorea include amantadine, levetiracetam (Keppra, others) and clonazepam (Klonopin). At high doses, amantadine can worsen the cognitive effects of Huntington’s disease. It may also cause leg swelling and skin discoloration. Side effects of levetiracetam include nausea, stomach upset and mood swings. Clonazepam may worsen the cognitive side effects of Huntington’s disease and cause drowsiness. It also has a high risk of dependence and abuse.
Medications for psychiatric disorders
Medications to treat psychiatric disorders will vary depending on the disorders and symptoms. Possible treatments include the following:
- Antidepressants include such drugs as citalopram (Celexa), escitalopram (Lexapro), fluoxetine (Prozac, Sarafem) and sertraline (Zoloft). These drugs may also have some effect on treating obsessive-compulsive disorder. Side effects may include nausea, diarrhea, drowsiness and low blood pressure.
- Antipsychotic drugs — such as quetiapine (Seroquel), risperidone (Risperdal) and olanzapine (Zyprexa) — may suppress violent outbursts, agitation, and other symptoms of mood disorders or psychosis. However, these drugs may cause different movement disorders.
- Mood-stabilizing drugs that can help prevent the highs and lows associated with bipolar disorder include anticonvulsants, such as valproate (Depacon), carbamazepine (Carbatrol, Epitol, Tegretol) and lamotrigine (Lamictal).
A psychotherapist — a psychiatrist, psychologist or clinical social worker — can provide talk therapy to help a person manage behavioral problems, develop coping strategies, manage expectations during the progression of the disease and facilitate effective communication among family members.
Huntington’s disease can significantly impair the control of muscles of the mouth and throat that are essential for speech, eating and swallowing. A speech therapist can help improve your ability to speak clearly or teach you to use communication devices — such as a board covered with pictures of everyday items and activities. Speech therapists can also address difficulties with muscles used in eating and swallowing.
A physical therapist can teach you appropriate and safe exercises that enhance strength, flexibility, balance, and coordination. These exercises can help maintain mobility as long as possible and may reduce the risk of falls.
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.
An occupational therapist can assist the person with Huntington’s disease, family members and caregivers on the use of assistive devices that improve functional abilities. These strategies may include:
- Handrails at home
- Assistive devices for activities such as bathing and dressing
- Eating and drinking utensils adapted for people with limited fine motor skills
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.