Drawing Straws
Therapy Allows Mind-Body Adaptation for Patients With Huntington Disease
By Isabelle Gullö
Monday April 13, 2009
Over the course of their careers, OTs may encounter patients with Huntington disease, a genetic disorder that causes deterioration of brain nerve cells and spurs significant changes in a person’s ability to control thoughts, moods, and movements. More than 35,000 Americans suffer from the condition, with another 250,000 at risk. Patients with HD experience spasmodic movements (chorea) and have difficulty with cognitive processes, such as planning or sequencing events. Many experience depression, anxiety, delusions, and aggression.HD is named for George Huntington, MD, a family practice physician who first described the condition in 1872 as being characterized by “a tendency toward insanity” and “its manifestation as a grave disease in adult life.” It is caused by a dominant gene, which means that a person carrying the gene is certain to develop the disease and has a 50% chance of passing it on to his or her children. The disease usually manifests between the ages of 30 and 45 and is fatal. Although there are treatments to alleviate certain symptoms, such as chorea and depression, there is no cure, despite extensive research on the Huntington gene and its behavior.Grasping at Straws
With that said, studies show that occupational therapy, along with exercise, nutrition, and a strong family support system, can greatly enhance quality of life for people with HD, having a positive impact not only on physical health, but on balance, motor skills, performance of day-to-day tasks, and — equally as important — a person’s mindset. “The main objective with therapy is to keep patients safe and independent for as long as possible,” says Mary Morgan LaGorio, OTR/L, CHT, with Minneapolis-based Hennepin County Medical Center, a Huntington’s Disease Center of Excellence.OTs do this by helping patients engage in the activities they are used to performing, because a person’s motor skills can supersede the movement patterns of chorea. “Start by breaking down complex — or seemingly complex — tasks into individual components,” suggests Samuel Frank, MD, movement disorder specialist and assistant professor of neurology at Boston University School of Medicine. For example, do not just ask someone with HD to make pasta. Instead, break the activity down into multiple steps that are more doable for the patient. “Ask them to get the pot, then fill it with water, then put it on the stove and turn on the gas,” he explains.Overall, establish a daily routine for patients and create lists of importance that are clearly visible. “Focus on something that is meaningful to the person, and set up a program that is reasonable and safe for the patient and family to carry out,” LaGorio recommends. “Family members can be overwhelmed with caring for their loved one, so programs should not be too overwhelming for anyone.”Other important aspects are home assessments for safety and appropriate modifications, as well as suggestions for adaptive equipment and wheelchairs should they become necessary. “Make sure that any equipment is safe for the patient to use based on their cognitive skills, motor skills, and balance,” LaGorio cautions. There are many simple devices that may help, but be aware that some patients with HD may be hindered, Frank adds. Canes are a great example of this, he says: “Under most circumstances, the gait in some would require a cane. However, some patients with HD will simply carry the cane, instead of using it, which worsens their balance and walking.”It’s crucial for HD patients to keep moving. “The average age of onset is 39,” Frank notes. “These patients are generally otherwise healthy, and can live 20-plus years with the disease. The better the physical condition they start out with and are able to maintain, the better they will do under more adverse circumstances, such as declining balance and infections.” When people with HD disengage from moving and become sedentary, they erode their foundation: balance and coordination. With exercise, overall function improves because the patient learns to adapt to his or her new movement patterns.“Exercises should be easy to do and remember,” says Frank, who encourages anything that maintains balance and use of hands. “Proximally, patients will lose strength and coordination. In addition, as the disease progresses, there tends to be more dystonia [increased tone with contractures] rather than chorea [flowing, brief movements].” Many types of exercise, such as tai chi or yoga, work on balance and encourage calmness and relaxation — “two very important and often overlooked aspects of therapy,” Frank says.Beyond therapy and fitness, nutritional support is a vital component to maintaining health. “Assist patients to be as independent in eating as possible,” LaGorio advises. Additionally, family support can make all the difference for HD patients, she notes: “I’m constantly amazed at what families can do for their loved ones.”Lengthening Straws
It’s essential that OTs know HD is more than a physical disease and chorea, Frank says. “The cognitive aspects need to be considered when working with patients. They may need to be given directions multiple times, as they sometimes perseverate on thoughts or have poor attention.” The speed of therapy sessions also needs to be a slower than for many other patients, he points out: “A slow response does not signify unwillingness to cooperate; patients with HD have a delay in processing and reaction.”Education about the disease for patients, caregivers, and staff is a key element of treatment at all stages, Frank continues. “Unfortunately, there are many myths about HD, but information empowers,” he says. Research plays a key role in uncovering more about HD, as well as in the advancement of treatment. In a recent study, researchers at the University of Texas Southwestern Medical Center at Dallas discovered that a drug used in some countries to treat symptoms of HD prevents the death of brain cells in genetically engineered mice. The drug, called tetrabenazine (TBZ; commercially distributed as Xenazine or Nitoman), blocks the action of dopamine, a neurotransmitter that plays a complex role in HD pathology.“Presymptomatic treatment of HD patients with TBZ may delay onset of the disease,” says Ilya Bezprozvanny, PhD, associate professor of physiology at UT Southwestern. According to Bezprozvanny, TBZ was recently recommended for FDA approval in the U.S. and may be approved for HD later this year. In the process of finding a cure, Bezprozvanny suggests it may be necessary to explore the possibilities of removing certain neuronal proteins associated with HD from cells (toxic-expanded huntington protein, or Htt), or making new neuronal cells, perhaps by using neuronal stem cells, both extremely challenging and lengthy procedures.In the meantime, researchers hope to find treatments that delay symptom onset, slow disease progression, or alleviate symptom intensity. “This is a line of research my lab is currently focused on, and I think these kinds of treatments can be developed soon,” Bezprozvanny says.Adds Frank: “For years, patients have been focused on the next generation, but I feel we’re approaching a generation that will significantly benefit from emerging concepts and therapies. I’m hopeful and cautiously optimistic about ideas and treatments moving forward.”Resources
Huntington’s Disease Society of America: www.hdsa.org
Tang TS, Chen X, Liu J, Bezprozvanny I. Dopaminergic signaling and striatal neurodegeneration in Huntington’s disease. J Neurosci. 2007;27(30):7899-7910.
Isabelle Gullö is a medical writer for the Gannett Healthcare Group.
To comment, e-mail oteditor@gannetthg.com.
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