Huntington disease is rare genetic neurodegenerative disorder, and it most often occurs in people of European descent: According to the U.S. National Library of Medicine, Huntington’s disease strikes between 3 and 7 of every 100,000 people with European ancestry.
Diagnosis can be traumatic, but that doesn’t mean that hope for a rewarding way of life is lost. Education is the first step to managing symptoms and improving outcomes. The next step is identifying the support and care options to create a quality life with Huntington’s.
What Is Huntington’s Disease?
Huntington’s disease involves significant changes to the central area of the brain caused by genetic mutations. The ensuing damage can result in a variety of physical, cognitive and emotional symptoms. These worsen with time.
The nature of the disease remains mysterious, although research conducted within the past several decades has uncovered a great deal about its causes and potential treatments.
Symptoms of Huntington’s Disease
Huntington’s disease symptoms vary, especially when progressing through the condition’s stages. Early symptoms often involve cognitive problems, memory lapses or a general inability to focus. Emotional problems such as feelings of hopelessness are also common. Some people may struggle with limited impulse control.
As the disease progresses, the following symptoms can be expected:
- Involuntary jerking of the body
- Difficulty speaking
- Struggling to swallow
- Choking on food
- Unusual eye movements
- Rigid motions
- Inability to walk or sit up
In addition to these physical symptoms, people diagnosed with Huntington’s often withdraw socially due to emotional symptoms. Many report feeling sad or apathetic. Thoughts of death and suicide can occur.
Stages and Progression
As a progressive condition, Huntington’s disease involves a variety of stages with a wide range of symptoms. Early on, these may be relatively mild, and often, difficult to identify. As the disease continues to take over, however, symptoms become more apparent — and more difficult to manage.
In most cases, the symptoms of Huntington’s disease begin to appear between the ages of 30 and 50. The condition can strike people of all ages, however. Some people first see symptoms after age 50, while others suffer a juvenile form of the disease.
Experts at the UC San Diego School of Medicine reference dramatically different types of Huntington’s stages. The most familiar are the standard classifications involving the disease’s physical and cognitive manifestations. These are accompanied by alternate stages related to the emotional experiences of being diagnosed. Both play important roles in understanding how the disease progresses — and realizing that the variance of people’s reactions to this progression are perfectly valid and normal.
Beginning with the onset of the illness and extending up to eight years, this stage is marked by minimal disruptions to independence. During this stage, those diagnosed with Huntington’s may be able to work on a part-time or even full-time basis while engaging in daily essential tasks such as eating or bathing.
The alternate version of stage I is marked by a clear sense of defiance, in which the diagnosed individual may acknowledge the existence of the condition while still refusing to accept it. Experts Jim Pollard and Rosemary Best describe this stage as “boldly resisting the inevitable.”
Typically beginning between three to five years after the onset of Huntington’s disease, stage II is marked by a modest loss of independence. Employment may become difficult to maintain at this stage, with many people choosing to leave the workforce to focus on disease management.
As such, Pollard and Best refer to this stage as “perseverance.” Those with Huntington’s may tire of disease-related difficulties but carry on throughout these challenges.
After five to fifteen years of dealing with Huntington’s, people can no longer handle any form of employment — even work-related tasks they once found easy to manage. They require assistance with cognitive-oriented practices such as handling finances. Friends or family members may take over these concerns while also providing additional help with domestic tasks.
This can create worry or embarrassment for people with Huntington’s, who, according to Pollard and Best, may feel sorry for causing trouble and wish they could help.
Between one and two decades after the onset of Huntington’s, those diagnosed will need significant help with nearly all aspects of daily living. While it is sometimes possible to continue residing at home, most people function better within planned living communities at this point.
The alternate name for this stage? Stamina. Many people find an inner strength at this stage that they never realized they possessed. This allows them to persevere even as they deal with large disruptions and a deterioration of physical and cognitive abilities.
As the final and most severe stage of Huntington’s, this phase is most identifiable based on the need for extensive support. Stage V may begin as early as eleven years after the onset of the disease. In other cases, however, some degree of independence is possible a full two decades after diagnosis.
While the symptoms at this stage can be severe, those with the disease achieve a sense of grace, as well as greater concern for the welfare of others. As Pollard and Best put it, these individuals hold a mentality of being “there for each other.”
Causes and Risk Factors
Huntington’s disease occurs due to a mutation in one of the copies of the huntingtin gene. This gene provides information for a protein that is also referred to as huntingtin. Although the huntingtin protein can be found in many of the body’s tissues, its activity is most prominent in the brain.
The defective gene responsible for Huntington’s disease contains the DNA sequence cytosine-adenine-guanine (CAG). When Huntington’s occurs, this sequence is repeated too often near the gene’s beginning. As a result, the mutant huntingtin protein harms specific parts of the brain, including a C-shaped structure called the caudate, and, eventually, the cerebral cortex. Symptoms begin to appear as these areas of the brain sustain significant damage.
Primarily a genetic disorder, Huntington’s disease is often passed down through family members. Children of parents with Huntington’s hold a 50 percent chance of developing the condition themselves. If, however, they do not acquire the disease, they will not pass it to their own children. Likewise, the severity of the mutation responsible for Huntington’s may determine the likelihood of passing the disease to offspring.
Those with fewer than 26 repeats of the responsible gene will not develop the disease — nor will their children. Those with over 40 repeats, however, will definitely develop the disease and are likely to pass it on. A gray area exists in which those with higher repeats are more likely to develop Huntington’s but may experience a later onset and reduced symptom severity.
Risk factors can offer extensive insight not only into whether a particular person might develop the disease, but also into its eventual severity.
Diagnosis and Treatment
A genetic test is available that can diagnose the presence of Huntington’s disease long before symptoms develop. This test is usually available to adults over the age of 18. Many people prefer not to be tested at all, as nothing can be done to slow or stop the condition’s progression.
Huntington’s disease can be difficult to diagnose in its early stages, as symptoms vary between people and may mimic other disorders. The preliminary diagnosis process typically involves a neurological examination that aims to determine current capacities for:
- Muscle strength
- Sense of touch
- Language skills
- Spatial awareness
Psychiatrists are also involved in the diagnosis process, as significant changes in mental and emotional health often accompany the onset of Huntington’s. These professionals may seek insight into a variety of contributing factors, such as:
- Behavioral patterns
- Mood disturbances
- Signs of substance abuse
- Harmful coping mechanisms
- Evidence of disordered thinking
While the above tests can offer valuable insight during the onset of Huntington’s, further examination may be required for those believed to have progressed to later stages of the disease.
Many people undergo brain imaging tests such as CT scans. Advanced imaging technology provides detailed images that may reveal structural changes prompted by the disease. Additionally, such tests can be used to rule out other diseases or conditions that might otherwise be thought responsible for Huntington’s symptoms.
Should the exams outlined above reveal a pattern of symptoms and risk factors for Huntington’s, a genetic test may be needed to confirm the diagnosis. Such tests are especially common when no known family history of the disease exists.
Upon confirming Huntington’s diagnosis, treatment planning can commence. Early intervention can provide impressive outcomes, often delaying the onset of severe symptoms. Unfortunately, no treatment will reverse the disease.
In most cases, a comprehensive approach to treatment will prove effective. This may include medications such as tetrabenazine or tranquilizers. Additionally, exercise is strongly recommended, as it may raise the body’s levels of brain-derived neurotrophic factor (BDNF) which is believed to provide valuable protection. Beyond medications, physical, occupational and speech therapy may be required to address a variety of symptoms.
Huntington’s Disease Care Options
Given the progressive nature and often slow onset of Huntington’s disease, it’s important to begin planning for a future of thriving while living with the condition. This should include not only therapeutic efforts, but also a living situation that allows for strong community connections and a personal sense of meaning.
During the early stages of the disease, many people are able to continue living at home. Eventually, however, a life planning community may become more appealing. This frees people with Huntington’s from many burdens of daily living, instead allowing them to focus on the relationships and personal satisfaction they crave. There’s no need to let this condition stand in the way of a meaningful way of life.
The Cabana at Jensen Dunes offers assisted living care to those with Huntington’s disease, as well as programs and activities designed to strengthen physical and cognitive abilities. Call us at 772-208-5062 to learn more, or request a free copy of The Cabana’s Guide for Finding the Right Community.