Progression of symptoms in the early and middle stages of Huntington disease.
OBJECTIVE
To delineate the progression of symptoms in the early and middle stages of Huntington disease (HD).


METHODS
A survey of individuals with symptomatic HD completed by a first-degree relative.


METHODS
The National Huntington Disease Research Roster for Patients and Families, Indianapolis, Ind.


METHODS
The survey included 1238 individuals with a minimum of a 6-year history of symptomatic HD.


METHODS
Participating families completed a series of surveys, including the Affected Individual Questionnaire, which consists of 19 physical, emotional, and cognitive signs commonly thought to occur during disease progression. The respondent indicates if each of the symptoms occurred and, if so, at what time during the course of the disease: (1) within 1 year, (2) within 2 to 5 years, (3) within 6 to 10 years, (4) after more than 10 years, (5) has not occurred, or (6) "don't know."


RESULTS
The symptoms are categorized into 6 onset periods. Involuntary movements are grouped alone as the earliest reported symptom. The second group is composed entirely of mental and emotional symptoms, including sadness, depression, and difficult to get along with. The third group includes clumsiness, sexual problems, lack of motivation, and suspiciousness/paranoia. As the disease progresses, a variety of motor, emotional/behavioral, and cognitive symptoms are experienced, including unsteadiness, trouble holding onto things, trouble walking, changes in sleeping patterns, delusions and hallucinations, intellectual decline, and memory loss. With the approach of late-stage HD, affected individuals begin to experience speech difficulty and weight loss. In the late stage, patients lose bowel and bladder control.


CONCLUSIONS
Even though the symptoms of HD are fairly well characterized, their progression, especially in the early and middle stages, remains uncertain. Clarification of the disease progression is vital to improved understanding of the pathogenesis of HD and to the evaluation of therapeutic agents that are designed to slow the progression of disease. The results of this study assist in clarifying HD progression from early involuntary movements and emotional changes to more overt motor symptoms and difficulty with activities of daily living.
Kirkwood
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SC
Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W Walnut St IB 130, Indianapolis, IN 46202. scloseki@iupui.edu
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Conneally
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Foroud
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D000203:Activities of Daily Living / Q000523:psychology; D000328:Adult; D000342:Affective Symptoms / Q000503:physiopathology / Q000523:psychology; D016009:Chi-Square Distribution; D020820:Dyskinesias / Q000503:physiopathology / Q000523:psychology; D005260:Female; D006306:Health Surveys; D006801:Humans; D006816:Huntington Disease / Q000453:epidemiology / Q000503:physiopathology* / Q000523:psychology; D008297:Male; D019957:Motor Skills Disorders / Q000503:physiopathology / Q000523:psychology; D012044:Regression Analysis