Huntington's Disease: Symptoms, Treatment, and Care
Huntington’s disease (HD) is a genetic neurodegenerative disease, meaning that it causes damage to the nervous system and that damage is progressive. Jerky involuntary movements are the classic sign of the disease. If you or a family member has been diagnosed with Huntington’s disease, it’s important to understand some facts about the disorder.
Huntington’s is not a new disease. Texts from the Middle Ages describe diseases causing twitching and jerking movements. During the Renaissance, a Swiss physician labeled these illnesses as “chorea,” from the Greek word for dance. When George Huntington began practicing medicine in New York in 1871, he met members of a family who had a pattern of unusual movements and dementia. Some of them had been patients of his father and grandfather. He studied them and published a description of the disorder, “On Chorea,” in 1872, when he was 22 years old.
The condition became known as Huntington’s chorea and later as Huntington’s disease. A group of researchers identified the genetic marker for Huntington’s in 1993.
What is Huntington’s Disease?
Huntington’s disease is among the most serious neurodegenerative diseases. It causes psychiatric problems and difficulty with movement and thinking. Onset usually occurs in one’s 30s or 40s, although there is a late-onset type and a juvenile type. Although the life span after onset can vary, the disease is always fatal.
Huntington’s is a rare disorder. Of 100,000 persons of European descent, between three and seven of them will have the disease. The disease is even rarer in Asia and Africa.
Huntington’s Disease Symptoms
The symptoms of Huntington’s can occur in any order. They fall into three categories:
- Involuntary jerking movements, also known as chorea
- Rigidity and tightening of muscles
- Speech difficulty and trouble swallowing
- Problems with gait, balance and posture
- Problems with eye movement
- Problems with executive function, affecting organizing skills and decision making
- Perseveration, or the tendency to get stuck on a particular thought or action
- Slowed processing skills, including difficulty finding words
- Trouble learning new information
- Lack of self-awareness
- Lack of impulse control
- Depression, often with thoughts of death or suicide
- Social withdrawal
- Manic behavior or bipolar disorder
Weight loss is another of the signs of Huntington’s disease. Researchers are unsure what causes it.
Stages of Huntington’s Disease
Since Huntington’s disease is a progressive disease, symptoms do become worse. The terms most commonly used for the stages of the disease are early, middle and late.
In the early stages of Huntington’s, individuals can usually keep their jobs and take care of themselves at home. They may continue driving. They may exhibit irritability, unease with new situations and some difficulty coping with cognitive tasks. Involuntary movements often appear, but they are usually small and infrequent.
In the middle stages, those with Huntington’s may have difficulty with gait and balance. They may struggle with speaking and swallowing. Involuntary jerking movements become bigger and more frequent. This is the stage in which weight loss can occur. Problems with thinking become noticeable to outside observers. Most will need help at home.
Those with late-stage Huntington’s will need round-the-clock care. Involuntary movements may decrease as rigidity worsens. They may become unable to walk. Some become unable to swallow. The ability to speak may be lost, but most individuals can still understand speech. Weight loss may be severe.
A more clinical description of Huntington’s divides the disease into five stages. This document also lists five “alternate” stages, which describe the disease in terms of the patient’s attitude. The five alternate stages are:
- Defiance: The person with HD may accept the diagnosis but resists accepting what it means
- Perseverance: The person with HD persists despite difficulties relating to the progress of the disease
- Compassion: The person with HD regrets the distress and inconvenience that their disease causes for family members and others
- Stamina: The person with HD carries on as well as possible
- Grace: The person with HD accepts needing help from others
Those with Huntington’s usually live ten to thirty years after diagnosis. Those with the juvenile form usually live around 10 years. Death may occur from heart failure, malnutrition or aspiration pneumonia, in which food or liquid gets into the lungs.
There is an increased rate of suicide among those with Huntington’s, although studies have shown different statistics. Some researchers believe that it is about 12 times the normal rate. Those with depression, anxiety, bipolar disorder and other psychiatric disorders that are often part of the disease had increased risk.
Causes of Huntington’s Disease
Huntington’s disease is caused by a faulty gene on the fourth chromosome. This gene produces a protein called huntingtin, which is important in brain function. The gene normally contains a DNA segment that is repeated from 10 to 35 times. When the genetic fault is present, the DNA segment is repeated many more times, up to 120 times or more. Those with 40 or more repetitions of this bit of genetic code almost always develop Huntington’s disease.
A higher number of repetitions results in earlier onset of the disease. Those who have from 36 to 39 repetitions may or may not develop the condition.
Children can inherit the disease from a parent in a pattern called autosomal dominant. That means that each child has a 50% chance of inheriting the gene. A child who does not inherit the gene cannot pass it down.
Those who have a family history of Huntington’s are usually aware that they are at risk of inheriting the disease. Some people are unaware of their history. This could occur with adoption or if the affected individuals in their family died early of other causes. Some families keep their history of Huntington’s secret.
Predictive Genetic Testing
Those who have a family history have the option of a predictive genetic test that would tell them whether they have the faulty gene before they have symptoms. About 90% choose not to take the test.
According to one study, those who decline testing do not want to know if they have the gene because there is no cure. They also said that once they received test results, they couldn’t “unlearn” the information. Those who want to take the test must undergo psychological screening to make sure that they can deal with a positive result.
Some people want genetic testing because they want to have children and do not want to pass the disease down to their children. If they test positive, there are ways for them to have children without passing down the gene. There are even ways for parents to have children free of the faulty gene without ever finding out their own status.
There are no risk factors for Huntington’s other than the presence of the genetic fault. Some researchers believe that environmental factors and other genetic factors could influence the age at which the disease occurs.
Diagnosis and Treatment
Doctors diagnose probable Huntington’s disease through a physical exam combined with a family medical history. In the physical exam, doctors look for the involuntary movements that are characteristic of Huntington’s, as well as noting problems with reflexes, balance and coordination. Tests can rule out other possible causes. The diagnosis of Huntington’s disease can be finalized through a genetic test if the patient consents.
Huntington’s disease treatment relies on medications to help with symptoms. Doctors commonly prescribe drugs for the disordered movement. Also, doctors may use antidepressants, anti-psychotics and mood stabilizers to help with the psychiatric symptoms.
Those with Huntington’s disease may benefit from speech therapy, physical therapy and occupational therapy. Both the patient and family members may benefit from speaking with a psychiatrist, psychologist or clinical social worker.
Since weight loss is an issue, those with Huntington’s disease and their caregivers need to pay special attention to eating. Dietary supplements can be helpful. The combination of easy-to-eat foods and specially adapted eating utensils can make mealtimes less stressful.
Huntington’s Disease Care Options
Because Huntington’s disease impairs both speech and cognition, some experts believe that those with HD should be asked about their wishes fairly early in the disease. In this way, they can have input into their futures. They may create a living will or fill out advance directives. They may have input into care decisions.
Because Huntington’s disease presents such a challenging mixture of symptoms, many times families cannot care for patients at home. The behavioral symptoms can be especially difficult. Those with Huntington’s can lose their inhibitions, become aggressive, be unaware of their own limitations and engage in repetitive statements or actions.
Assisted living or memory care communities are suitable for some of those with Huntington’s. They need social interaction, and they can get that in the right supportive care community. When their cognitive abilities decline, they may need dementia care. Near the end of life, they may need to transition to skilled nursing, palliative care or hospice care.
The Atrium at Boca Raton is a supportive care community that specializes in friendly encouragement. It offers safe housing, a calm environment, nourishing meals, medication support and a program that can be personalized to meet each resident’s needs. Its memory care community features extra security and a staff that is trained in dementia care.
Call us at 561-750-7555 to learn more, or request a free copy of our Guide for Finding the Right Assisted Living Community.