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Health and Social Care Teacher at Hazeley Academy

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Huntington's disease is a condition that stops parts of the brain working properly over time. It's passed on (inherited) from a person's parents.

It gets gradually worse over time and is usually fatal after a period of up to 20 years.

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Overview

Huntington's disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a wide impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.

Huntington's disease symptoms can develop at any time, but they often first appear when people are in their 30s or 40s. If the condition develops before age 20, it's called juvenile Huntington's disease. When Huntington's develops early, symptoms are somewhat different and the disease may progress faster.

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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Symptoms

Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly from person to person. Some symptoms appear more dominant or have a greater effect on functional ability, but that can change throughout the course of the disease.

Movement disorders

The movement disorders associated with Huntington's disease can include both involuntary movement problems and impairments in voluntary movements, such as:

Involuntary jerking or writhing movements (chorea)

Muscle problems, such as rigidity or muscle contracture (dystonia)

Slow or unusual eye movements

Impaired gait, posture and balance

Difficulty with speech or swallowing

Impairments in voluntary movements - rather than involuntary movements - may have a greater impact on a person's ability to work, perform daily activities, communicate and remain independent.

Cognitive disorders

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

Psychiatric disorders

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

Insomnia

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 disorders, 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 early in the course of the disease include:

Behavioral changes

Difficulty paying attention

Rapid, significant drop in overall school performance

Behavioral problems

Physical changes

Contracted and rigid muscles that affect gait (especially in young children)

Tremors or slight involuntary movements

Frequent falls or clumsiness

Seizures

When to see a doctor

See your health care provider 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.

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Causes

Huntington's disease is caused by an inherited difference in a single gene. Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the nontypical 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 nontypical gene could pass along the nontypical copy of the gene or the healthy copy. Each child in the family, therefore, has a 50% chance of inheriting the gene that causes the genetic disorder.

Complications

After Huntington's disease starts, a person's functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from the first symptoms 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 the greatest risk of suicide occurs before a diagnosis is made and in the middle stages of the disease when a person starts to lose independence.

Eventually, a person with Huntington's disease requires help with all activities of daily living and care. Late in the disease, the person will likely be confined to a bed and unable to speak. Someone with Huntington's disease is generally able to understand language and has an awareness of family and friends, though some won't recognize family members.

Common causes of death include:

Pneumonia or other infections

Injuries related to falls

Complications related to the inability to swallow

Prevention

People with a known family history of Huntington's disease are understandably concerned about whether they may pass the Huntington 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 that 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.

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Huntington's disease - Symptoms and causes

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This condition causes a progressive breakdown of nerve cells in the brain. Find out about what signs to watch for and how treatments may help.