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Washington University Experience | NEURODEGENERATION | Huntington Disease | 3A0 Case 3 History
Case 3 History ---- This patient was a 44yo female who had been under the care of the Movement Disorder Center (MDC) at WUSOM for several years for management of HD. Although no gene testing to confirm the disease was included in the historical information provided, the patient is a member of a large family with known definitive HD. The patient also had depression and personality change (irritability and disinhibition) at the time she was last seen in October, 2004. At that time she was experiencing chorea involving the face, neck and trunk and bilateral upper and lower extremities. There was no evidence of dystonia, tics or myoclonus but they patient had difficulty walking and had occasional falls. She was alert and orientated to person, place and time. Her attention and flow of thought were normal. The voice was moderately hypophonic, hyperkinetic and moderately monotonic; pronunciation was severely indistinct. Her jaw partly closed during speech. Her long term memory was intact; however, short term memory was defective. Her affect was predominantly euthymic but the range of affect was masked. There were no hallucinations, delusions, suicidal ideation, homicidal ideation, obsessions or compulsions. Insight was fair. On physical exam there was normal muscle tone. Akinesia was rated at 1 on a 0-4 scale (with 0 being normal). There was no ballismus. Chorea was present and evaluated as follows on a 0-4 scale (with 0 being normal): at rest: face 2, neck 2, trunk 2, right upper extremity 2, left upper extremity 2, right lower extremity 2, left lower extremity 2. No detail concerning the patient’s demise was provided. ---- At autopsy the fresh brain weighed 990g.
