Understanding the wide-ranging impact of HD on an individual can help family and friends remain supportive of the person as he or she faces the challenges of the disease. Over time, HD affects all facets of a person’s life. It causes changes in the brain that impact movement, cognition (thinking), emotions and behavior, and changes in one area often affect another.
1 – Movement Disorders
Abnormal movements are the most visible symptoms of HD. Early signs of HD may include clumsiness, loss of balance and fidgeting. Problems with movements may include quick involuntary movements, known as chorea, twisting postures known as dystonia, and reduced speed and accuracy of fine movements. The movement disorders of HD are often accentuated with stress or excitement.
Adults with HD often appear restless and make “fidgety” gestures or grimaces. These involuntary movements are known as chorea. Chorea can be mild or severe and is often the first physical symptom of HD. It may appear as random, jerky movements of the fingers and toes. Later, the person may develop a distinctive “scissoring” or lurching walk. Over time, involuntary movements of the head, trunk and limbs may become severe, causing the person to writhe or twist into exaggerated positions. In late stage HD, chorea may subside. Some individuals with HD experience little chorea and instead primarily experience slowing, stiffness, and poor coordination.
Chorea is probably the most common symptom of HD. In the early stages, people with HD may be unaware of their chorea or they may incorporate the movements into their voluntary actions. If the chorea is mild or if the person is not bothered by it, treatment can be limited to strategies such as balance training. However, if the person with HD is distressed by their chorea; if severe chorea is causing falls and accidents; or if it significantly interferes with quality of life, there are medications available, which may reduce or control the involuntary movements. Several types of medications can be used to control chorea. These medicines do not slow down the progress of HD and they have the potential to cause significant side effects. It is important to work closely with a physician or neurologist familiar with HD when considering chorea treatments. The types of drugs used to treat chorea will change over time and each person should consult with their primary care provider or a neurologist experienced with HD to determine what course of treatment/medications will work best for their individual condition.
– Impairment of voluntary movements
HD also affects voluntary movements and muscle control. HD patients often make movements that are exaggerated in size. In addition, they have trouble maintaining an ongoing movement. This may cause them
to drop things or to dip at the knees when walking. Although chorea is the most obvious movement problem associated with HD, many patients are much more disabled by these impairments in voluntary movements
than by the chorea. As the disease progresses movement slows and the patient loses coordination and small motor control. Walking becomes slower and more poorly coordinated and falls become more common. Diminished muscle control will also cause problems with swallowing and the speech of a person with HDwill become slurred and harder to understand. Late stage HD patients are not able to walk or to care for themselves and their speech becomes impossible to understand even though they can understand much that is said to them.
Addressing the impairment of voluntary movements in HD requires a broad-based approach.While there are currently no treatments which can halt the advance of the disease, Physical Therapy (PT), Occupational Therapy (OT), Speech Therapy, Nutrition, and Assistive Devices may make it easier to adjust to changing capabilities and prolong quality of life. For example, an OT may recommend putting corner guards on furniture or installing handrails in the home to help prevent bruises or falls while a Speech Language Pathologist may introduce exercises to help maintain clarity of speech or swallowing techniques to aid in eating.
2 – Cognitive Disorders
HD causes more than movement disorders. It also affects the ability of the brain to understand, organize and retain information. Changes in cognition (the ability to think) can be an initial indicator of HD. HD progressively affects cognitive functions such as: organizing and prioritizing, controlling impulses, beginning and ending activities, creative thinking and problem solving. The
person with HD may become forgetful, distracted or reckless.
Changes in cognition can be one of the hardest aspects of HD to accept. It can become a source of great frustration to both the patient and to their family. It can be hard to accept that disorganization and forgetfulness are symptoms of the disease and that the person with HD cannot simply “try harder.” However, simple strategies and techniques exist which have improved the quality of life for many HD families, including:
• Maintaining familiar routines
• Breaking tasks into small steps
• Avoiding open-ended questions
• Adopting “to-do” lists and calendars
• Using patience and understanding
3 – Emotional/Behavioral Disorders
Among other things, HD causes progressive damage to the nerve cells in the brain that regulate thoughts and feelings. These unregulated emotions, caused by the disease, may cause mood swings and irritability. The patient may overreact to everyday events. People with HD may say cruel things or behave aggressively because of the changes in their brains. It is important to know when it is the disease “talking” and not the patient.
Depression is also common in HD. It appears to be directly related to the brain disorder and it typically responds very well to standard treatments, though HD patients may be very sensitive to the side effects of medication and should have their dosages carefully monitored by a doctor. The types of drugs used to treat depression will change over time and each person should consult with their primary care provider or a neurologist experienced with HD to determine a course of treatment for their individual condition.
Excerpted from “Huntington’s Disease. A Family Guide” with permission from the Huntington’s Disease Society of America (HDSA), www.hdsa.org