Huntington's disease is a neurodegenerative disorder characterized by midlife onset, involuntary movements, cognitive decline, and behavioral disturbances. In 1872 George Huntington described a familial form of chorea and named it hereditary chorea. His description, which appeared in the Philadelphia Medical and Surgical Reporter, included all the features considered diagnostic for the disease that now bears his name (1,2).
Huntington's disease is caused by a mutated autosomal dominant gene located on the short arm of chromosome 4. Persons who have a parent with Huntington's disease have a 50 percent risk of developing the disease themselves. Genetic testing is almost 100 percent sensitive and specific for detecting the abnormal gene. The classic computed tomography finding of flattening of the lateral aspects of the lateral ventricles seen on transverse sections represents atrophic changes in the caudate nuclei and may assist the practitioner in diagnosis.
However, the cornerstone of any diagnosis of Huntington's disease is the patient's family history (3). A patient with Huntington's disease may present with neurological or psychiatric symptoms, or both. The movement disorder may begin with simple twitching or jerking or with clumsiness or coordination problems. As the disease progresses, the patient exhibits generalized chorea. The gait may become bizarre, including stuttering or dancing movements compounded by ataxia. In addition, frank dementia becomes apparent as the disease advances.
Psychiatric signs and symptoms spanning a wide range of disturbances appear among 35 to 73 percent of patients with Huntington's disease; 30 percent of patients meet DSM criteria for major depression (4,5). Suicide is a common cause of death, occurring at four to six times the rate in the general population. Huntington's disease usually proves fatal between ten and 20 years after onset because of pneumonia and respiratory compromise with progressing dysphagia, which frequently lead to recurrent aspiration (3,5).
No treatment is available to reverse, retard, or stop the relentless progression of Huntington's disease. However, several medications, including baclofen, idebenone, and vitamin E, have been studied in clinical trials with limited samples (6,7,8). For choreiform movements, dopamine receptor antagonists such as haloperidol, pimozide, and fluphenazine can be used at low dosages (9).
However, clinicians should be mindful of the side effects commonly associated with these medications, namely, parkinsonism and tardive dyskinesia. Clozapine may also be beneficial in managing movement disorders and psychotic symptoms among patients with Huntington's disease (10). Although newer neuroleptic agents such as risperidone, olanzapine, quetiapine, and ziprasidone may prove useful, they have not been systematically studied in the treatment of Huntington's disease.
For the management of aggressive behaviors, carbamazepine and valproic acid are commonly used among patients with Huntington's disease, as they are among patients with other neurodegenerative disorders. Serotonergic agents have likewise been implicated in controlling aggressive behaviors associated with a variety of neuropsychiatric disorders (11). Ranen and associates (12) reported the efficacy of sertraline in the management of aggressive behavior among patients with Huntington's disease.
Benzodiazepines may also be useful in alleviating aggressiveness or anxiety, but attention must be paid to unsteady gait, sedation, and predisposition to aspiration while patients are taking these agents. Clomipramine and selective serotonin reuptake inhibitors may be beneficial in controlling obsessive-compulsive behavior associated with Huntington's disease, as is the case with other dementias (13). Electroconvulsive therapy has been used for patients with severe depression associated with Huntington's disease (14). Although drug therapy for inappropriate sexual behavior is generally reserved as a last option, medroxyprogesterone may be useful.
The behavioral management of patients with Huntington's disease in the long-term-care setting is a difficult undertaking but is the primary reason many patients are confined to institutional settings. As is the case with other dementias, behavioral symptoms frequently define the level of restrictive care that is necessary for a patient to be managed effectively and successfully.
Among the many behavioral anomalies exhibited by patients with Huntington's disease, aggression is the most problematic in the extended care setting, particularly because patients may endanger staff and themselves if this behavior is not appropriately addressed. Although aggressive behavior may be resistant to treatment, there are accepted and efficacious therapies that can be easily applied to the extended care setting (15).
Both classical and operant conditioning are useful in the management of aggression. Operant conditioning—the most commonly used—involves the reinforcement of more appropriate behaviors and discouragement of inappropriate behaviors, including aggression (16). Behavioral techniques can be an invaluable aid in the management of aggression, not only significantly decreasing the risk of injury to the patient and staff but also improving the patient's functioning and his or her adaptation to the extended care environment.
Social isolation is another problem commonly encountered in the extended care setting (15). Family therapy and genetic counseling are often useful for alleviating family conflict and stressors related to relationship losses. Behavioral treatment is likewise a useful strategy for minimizing social isolation and lack of social stimulation.
Problems associated with the management of activities-of-daily-living care by nursing staff are another major area of concern for both the patient and the direct care staff. Involuntary movements and unpredictable behavior present significant risks in the extended care environment. Adaptive devices and specialized equipment are valuable in maintaining the patient's comfort, possibly decreasing the expression of problematic behaviors, and minimizing the risk of injury to staff and the patient during needed activities-of-daily-living care. The use of adaptive equipment improves the patient's functioning and the ability of the direct care staff to provide necessary care safely and effectively.
Management of the supportive care of patients with Huntington's disease in the extended care setting appears, on the surface, to be a routine endeavor from which only minimal gains in patient functioning are to be expected. However, when extended care is more carefully scrutinized and functional goals are examined, it becomes apparent that supportive care measures are important and promising in the treatment and management of this patient population. An overview of the problems encountered by the physician who is leading the treatment process is an important component of the discussion of the practical care of the patient with Huntington's disease.
First and foremost in the successful coordination of the care and management of any chronically ill patient is the collection of objective data. Frequently our examination of behavioral and functional indicators is colored by varying perceptions of events and their possible causes. Two people may interpret a patient's behavior as well as family involvement very differently on the basis of multiple individual and professional differences. Through acceptance of the need for objective data collection as well as objectivity in the evaluation of that data, we can significantly improve our plan for supportive care, the performance of our plan, and its adaptability to the constantly changing environment of the extended care setting.
Motivation on the part of direct care staff is of paramount importance in the successful implementation of any care plan. In addition to motivating the staff to implement the plan, the maintenance of motivation and interest becomes increasingly important as the patient's disease progresses (15). Unfortunately, the stages of disease that require the most diligent supportive care are also those fraught with the highest risk of caregiver burnout and loss of motivation in treatment, thus increasing the risk of temporary or permanent treatment failure. The identification and "treatment" of staff burnout are integral to the implementation of a successful care plan (16). Motivating staff through rewards often promotes a sense of creativity that becomes an essential element in the treatment of patients with Huntington's disease. Soliciting creative solutions from the direct care staff not only encourages greater efficiency but also provides a sense of ownership of the treatment plan, resulting in a more organized and successful approach to care.
In addition to its neurological and behavioral challenges, the care of patients with Huntington's disease is often complicated in the extended care setting by the emergence of multiple family issues. The emotional burden of Huntington's disease is significant for the spouse, children, and other family members (17,18,19). By the time a patient with Huntington's disease reaches the extended care setting, the family is usually emotionally and physically exhausted. Although some family members may feel relieved that they are no longer responsible for the direct care of the patient at home, some may also feel guilty of "abandoning" their loved ones to the extended care setting.
To be able to work effectively with the family of a patient with Huntington's disease, clinicians should be mindful of their own—often complex—emotional reactions. Withdrawal from the patient or overinvolvement in the patient's care is not uncommon. Clinicians should be sensitive to the family's need to make sense of their loved one's pathological behaviors and their general expectation that clinicians will provide simple medical explanations for the patient's symptoms. As with any dementing disorder, careful listening is the first step in working with family members of patients with Huntington's disease. Clinicians may have to work with hostile and dissatisfied relatives who may in turn negatively affect the patient's behavior. It may be helpful to refer family members to the Huntington's Disease Society of America (HDSA), which can provide resources for education and support.
Special attention must be paid to the children of patients with Huntington's disease. Some may have significant difficulty accepting not only their parent's diagnosis but also the genetic risk they themselves carry. Genetic counseling should be offered, and questions should be answered directly and clearly.
Huntington's disease is a multifactorial disease with diffuse and sometimes elusive neurological and psychiatric symptoms. In addition to direct symptoms, treatment of multiple peripheral factors is an important aspect of the management of Huntington's disease. Extensive information for families and caregivers can be obtained from HDSA by calling 800-345-HDSA (4372) or by visiting http://www.hdsa.org. HDSA provides information about the disease itself and about resources, including the locations of genetic testing centers and insurance coverage for testing, movement disorder clinics, long-term-care facilities, social services, and hospice care. When careful attention is given to the needs of the patient, the family, and care providers, the psychiatric and neurological symptoms of Huntington's disease can be managed successfully and safely in the extended care environment.
Dr. Wood is affiliated with the department of psychiatric medicine of the School of Medicine at the University of Virginia in Charlottesville and with Catawba Hospital, P.O. Box 200, Catawba, Virginia 24070 (e-mail, firstname.lastname@example.org). Dr. Kim is with the department of psychiatric medicine and Dr. Harpold with the department of neurology in the School of Medicine at the University of Virginia. Marion Z. Goldstein, M.D., is editor of this column.