Huntington’s disease is a genetic disease which causes progressive neuropsychological symptoms, including changes in behavior, thinking and movement. The Huntington’s disease gene mutation is passed through families and affects the functioning of certain nerve cells in the brain causing cell death. The specialists at IU Health Neuroscience have particular expertise in Huntington’s disease, providing comprehensive evaluation and exceptional treatment.
Most people who develop Huntington’s disease have symptoms which begin in their 30s and 40s. However, rarely patients can develop symptoms as early as childhood. When symptoms begin in childhood, they may resemble those of Parkinson’s disease with rigidity, slow movements and tremors.
IU Health Neuroscience helps people who have Huntington’s better manage their condition so they can enjoy life to their fullest ability. A team of experts provide individualized care through sophisticated diagnostic testing, the most innovative treatments, including clinical trials, and various educational and support services. Our advanced treatment and specialized expertise is highly sought by people from across Indiana and beyond. In providing the highest level of care for patients with this disorder, we are designated as a Center of Excellence by the Huntington’s Disease Society of America.
Symptoms of Huntington’s disease are varied, and may begin with psychiatric issues before movement problems.
The most common psychiatric disorder associated with Huntington’s is depression. This is not simply a reaction to receiving a diagnosis, but occurs because of injury to the brain and changes in brain function. Symptoms include:
- Feelings of sadness or unhappiness
- Loss of interest in normal activities and social withdrawal
- Insomnia or excessive sleeping
- Fatigue, tiredness and loss of energy
- Feelings of worthlessness or guilt
- Indecisiveness and decreased concentration
- Frequent thoughts of death, dying or suicide
- Changes in appetite
Other common psychiatric problems are obsessive-compulsive disorder, mania and bipolar disorder. Mood or personality changes may also occur, such as irritability, apathy, anxiety or inappropriate behaviors.
Movement disorders associated with Huntington’s disease can include involuntary and voluntary motions such as:
- Involuntary jerking or writing (chorea)
- Involuntary sustained contracting of muscles (dystonia)
- Muscle rigidity
- Slow, uncoordinated fine movements
- Slow or abnormal eye movements
- Impaired walking, posture and balance
- Difficulty with production of speech and swallowing
People who have Huntington’s will see a decline in their cognitive function, and may experience:
- Loss of memory
- Loss of judgment
- Speech changes
- Personality changes
- Disorientation or confusion
Symptoms of Juvenile Huntington’s
Fewer than ten percent of people who have Huntington’s develop symptoms before age 20. Earlier onset often results in a faster disease progression and somewhat different presentation of symptoms, which can include:
- Loss of previously learned academic or physical skills
- Rapid drop in school performance
- Behavioral problems
- Rigidity in muscles that affect walking
- Changes in fine motor skills such as handwriting
- Tremors or slight involuntary movements
Huntington’s disease is caused by a genetic defect on chromosome #4. The defect causes a part of DNA to occur many more times than it is supposed to. When the gene is passed on from one generation to the next, the chance of developing symptoms at an earlier age increases. As the disease continues in families, it becomes evident at younger and younger ages.
Indiana has the second highest recorded Huntington’s disease population in the nation. Current estimates indicate that as many as one in 10,000 people in the U.S. have the disorder. The disease creates a ripple effect because relatives are likely to experience Huntington’s and its varied consequence. It is therefore estimated that one in 1,000 Americans is directly affected.
If one of your parents has Huntington’s disease, you have a 50 percent chance of inheriting the gene. If you inherit the gene from your parents, you will develop the disease at some point in your life and can pass it on to your children. If you do not get the gene from your parents, you cannot pass the gene on to your children. Genetic counseling is advised if there is a family history of Huntington’s. Experts also recommend genetic counseling for couples with a family history of the disease who are considering having children.
Huntington’s disease strikes people in the prime of their lives. The average age of onset is between 30-50. Everyone who inherits the gene will eventually develop the disorder, and the illness can last 10-25 years. It has been diagnosed in children as young as two and adults as old as 80.
People who have Huntington’s may suffer from many problems related to the disorder, including:
- Loss of ability to care for self
- Loss of ability to interact
- Injury to self or others
- Increased risk of infection
Depression and suicide are common among people with Huntington’s disease, as it causes disability that gets worse over time. It is important for all family and caregivers to monitor for symptoms and treat accordingly. As the disease progresses, the person will need assistance and supervision, and may eventually need 24-hour care.
Our highly skilled doctors are experts at diagnosing Huntington’s disease. To confirm the disorder, they rely on the patient’s family history and symptoms as well as a detailed neurological exam. Brain imaging tests such as a head CT scan or MRI may show loss of tissue, especially deep in the brain, although imaging is not required for the diagnosis.
If symptoms strongly suggest Huntington’s, your doctor may recommend a genetic test for the defective gene. This test can confirm the diagnosis, and it may be valuable if there is no known family history. Some people who are not experiencing symptoms, but have a parent with Huntington’s disease, may chose to undergo presymptomatic gene testing. However, before undergoing such testing, it is required to see a genetic counselor who can explain the benefits and drawbacks of learning test results. IU Health’s Huntington disease center of excellence includes an experienced genetic counselor.
IU Health Neuroscience doctors have vast experience treating movement disorders, and the clinical knowledge to properly identify signs and symptoms. Many people seek our highly specialized expertise when frustrated with lack of diagnosis or adequate treatment elsewhere.
The goal of Huntington’s disease treatment is to reduce symptoms and help the person function for as long and as comfortably as possible. There is no cure yet, and no way to stop disease progression. IU Health Neuroscience offers the full range of the most innovative treatments, research, and our highly skilled doctors determine the best course of therapy for each person.
Medications can lessen some symptoms of movement and psychiatric disorders. Dopamine blockers may help reduce abnormal behaviors and movements. Other options include antipsychotics, antidepressants, and anti-anxiety and mood-stabilizing drugs. Medication is likely to evolve over the course of the disease and some drugs may result in side effects that worsen other symptoms. Therefore, the treatment goals and plan will be regularly reviewed and updated.
Multiple therapeutic interventions can help a person with Huntington’s disease adapt to changes in ability.
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 progression of the disease and facilitate effective communication among family members.
Huntington’s can significantly impair 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. They 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
Huntington’s Disease Clinic
IU Health Neuroscience provides a dedicated Huntington’s disease clinic at IU Health University Hospital in Indianapolis, in the Neurology outpatient department. Patients can learn about the latest treatment options in the news, participate in clinical trials and join a Huntington’s support group. The clinic is staffed by neurologists, a social worker, a genetic counselor, and nurses specializing in movement disorders.
Managing at Home
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. Many issues will need to be addressed, and strategies to cope with them will change over time.
Eating and Nutrition
People with Huntington’s disease often have difficulty maintaining a healthy body weight. This may be caused by difficulty eating, higher caloric needs due to physical exertion or unknown metabolic problems. To get adequate nutrition, more than three meals a day may be necessary.
Difficulty with chewing, swallowing and fine motor skills can limit the amount of food eaten and increase the risk of choking. Problems may be minimized by removing distractions during a meal and selecting foods that are easier to eat. Utensils designed for people with limited fine motor skills and covered cups with straws or drinking spouts can also help. Eventually, a person with Huntington’s will need assistance with eating and drinking
Managing Cognitive and Psychiatric Disorders
Family and caregivers can help create an environment that may help a person with Huntington’s disease avoid stressors and manage cognitive and behavioral challenges. These strategies include:
- Using calendars and schedules to keep a regular routine
- Identifying and avoiding stressors that can trigger outbursts, irritability, depression or other problems
- Creating an environment that is as calm, simple and structured as possible
- Initiating tasks with reminders or assistance
- Prioritizing or organizing work or activities
- Breaking down tasks into manageable steps
- For school-age children or teens, consulting with school staff to develop an appropriate individual education plan
- Providing opportunities for the person to maintain social interactions and friendships as much as possible
From diagnosis through treatment, IU Health Neuroscience provides the most experienced doctors and the most innovative treatment options for sophisticated Huntington’s disease care.
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