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Washington University Experience | NEURODEGENERATION | Huntington Disease | 13A0 Case 13 History
Case 13 History This patient first presented to the Movement Disorders in 1999 at age 49. He had worked until 2004 and retired due to symptoms of Huntington's disease (HD). He had trouble adapting to the high stress and an inability to function well. In particular he had trouble organizing people. Two weeks prior to his office visit in late February 2010, the patient had a religious experience which told him he was healed from HD, and he stopped his medications (resperdal, ranitidine, ambilify, Zoloft, alprazolam, lactulose, and advil). The patient and his wife recently moved to Saint Louis. He has exhibited highly specific eating habits in his life, and these traits have become particularly strong lately. There have been several falls and minor scrapes, but no broken bones. There had been weight loss: his original weight was 168 lbs and at the office visit he weighed 115 lbs. There were oral-buccal lingual dyskinesias. Facial expression was normal. Muscle bulk was normal. He was cachectic, but there was no pathological muscle wasting. Fasciculations were absent. Chorea was present. Hand movements were abnormal; there were slowed movements in fingers and hands bilaterally. He scored 2 on the pull test, indicating absence of postural response and would have fallen if not caught by an examiner. With plantar stimulation, the right toe was down-going and the left toe was equivocal. A score of 55 was received on the HDMA (Huntington's Disease Motor Assessment). Ocular pursuit had jerky movements horizontally and had jerky movements vertically. Saccade initiation was accompanied by suppressible blinks or head movements horizontally and was mildly slow horizontally accompanied by suppressible blinks or head movements vertically. Speech was unclear and repetition was necessary to understand. Finger taps could barely be done on the right and were severely impaired on the left. Hand pronation/supination movements were moderately impaired on the right and were moderately impaired on the left. Arm rigidity was slight or present only with activation on the right and slight on the left. Body bradykinesia was absent. There was marked chorea of the mouth, trunk, upper and lower extremities. Gait had a wide base and was unsteady. A total of 24 out of 30 (mild dementia) was scored on the Mini-Mental State Examination. The patient was unable to correctly identify: the date, office address, and floor of building, or to copy intersecting pentagons. The primary neurological clinical diagnosis is Huntington’s disease. ---- The clinical cause of death at age 60 years was inanition with Huntington’s disease contributing. At autopsy the unfixed brain weighed 1490g
