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Washington University Experience | NEURODEGENERATION | Huntington Disease | 8A0 Case 8 History
Case 8 History ---- The patient was a 35yo female presenting with a complaint of involuntary movements who, 12 years later, was in a full-care nursing home. She no longer walked. She communicated little but did seem to understand what was going on. Her right arm was constantly flexed at her head and she constantly picked at her left chest. Risperdal was particularly helpful in her pharmacotherapy. A score of 90 was received on the Motor Assessment of the Huntington's scale. Speech was mostly incomprehensible. Hand pronation/supination was impaired. Arm rigidity was mild to moderate on both the left and right. Body bradykinesia was moderately slow with some hesitation. There was marked dystonia. There was chorea in the trunk and right and left upper and lower extremities. Gait and tandem walking could not be attempted. The patient could not stand. A score of 9 was received on the Behavioral Assessment portion of the Huntington's scale. The frequency of perseverative or obsessional thinking was high. There was no evidence of hallucinations or delusions. The patient appeared confused and demented. A score of 50 was received on the Functional Assessment portion of the Huntington's scale. The patient could not engage in gainful employment in her accustomed work, manage her finances, or operate an automobile safely. Independently. Huntington's Disease Independence Assessment was rated as 20 which indicates 'no speech; must be fed.' Her occupational capacity was assessed as 'completely disabled.' Activities of daily living required total care. The patient could live in a facility or at a home with full-time nursing care. The total score for functional capacity was 0, on a 0 to 13 scale. In conclusion, this patient had Huntington's disease with marked chorea and dystonia. An expansion in the huntingtin gene had previously been demonstrated. ---- At autopsy the unfixed brain weighed 900g
