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Washington University Experience | NEURODEGENERATION | Huntington Disease | 15A0 Case 15 History
Case 15 History This patient was a 26yo female who presented at the Movement Disorders Center in December 2004, for evaluation of Huntington's disease. She had a child about two months before the visit and her child only sleept about 3 hours at a time resulting in substantial stress. Her mood has been lower since the birth but she has had daily mood swings with lots of irritability. She has noticed clumsiness for the last three years and had her first fall three years ago. Prior to her pregnancy she used to fall once a week, now she experiences daily near falls. She runs into objects and bruises herself multiple times a day. She has further noticed increased twitching in her hands and ankles. She also thinks her speech is more slurred. She has become more forgetful and irritable and overall she is very concerned and frustrated. Her major concern is her low mood. Her son is two months old and has good health. Her father died at age 50 from Huntington's disease (HD) and had depression with suicide attempts, chorea, speech impairment, and dementia. Her father's mother died at 55 from HD. Her sister is 32 years old and has HD. Two sisters are in good health. The patient smoked cigarettes and drank alcohol but quit one year prior to the office visit. The patient's mood was depressed, irritable and anxious. There were no hallucinations, delusions, suicidal thoughts, obsessions or compulsions. Her attention, language, intellect, judgment and flow of thought were normal. There was good insight. Neurological exam revealed jerky pursuit movements and slow saccades. There were oral-buccal-lingual dyskinesias. She had very mild twitching of the mouth. The palate was elevated in the midline. There was impersistence of tongue protrusion. A score of 35 (range: 0 (normal) to 64) was achieved on the Motor Assessment of the Unified Huntington’s Disease Rating Scale (UHDRS).. A total of 29 of 30 was scored on the Mini-mental State Examination (MMSE). The patient has Huntington's disease with chorea with a confirmed gene defect. She displayed chorea, rigidity, bradykinesia and poor balance. Her irritability and mood swings were the main current problems. She had recurrent major depression. The patient expired in October 2011 with little known about her terminal course. ---- At autopsy the unfixed brain weighed 1230g.
