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Case presentation- Huntington’s Disease

Case presentation- Huntington’s Disease . Agatha Stanek. Case presentation . 40 year-old male patient is brought to clinic with wife and adult son and you notice he is being restrained by staff for being overly aggressive but obvious coordination problems Patient is forgetful, agitated

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Case presentation- Huntington’s Disease

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  1. Case presentation- Huntington’s Disease Agatha Stanek

  2. Case presentation • 40 year-old male patient is brought to clinic with wife and adult son and you notice he is being restrained by staff for being overly aggressive but obvious coordination problems • Patient is forgetful, agitated • Decreased sense of smell • Some weight loss

  3. Past Medical Hx • ?

  4. Fx • Uncle had colon cancer. • Father likely had Alzheimer’s Disease but this was an opinion expressed by the staff at the home he lived at for 5 years. • Sister of client is diabetic X 12 years Occupational Hx • Patient is an accountant • Was volunteering at nearby hospital but stopped doing so about 2 weeks ago because of his changing behaviour and incident- sexual aggression towards a clerk.

  5. Sx • Married to wife for 19 years who claims he is constantly hostile towards her. • Two children- son and younger daughter and one grandson • Client smokes but no alcohol use Meds: ? If he has…

  6. PE Results • HEENT: Facial twitching Abnormal eye movements Neuro: bradykinesia Neck and lungs: clear Cardiac: RRR

  7. Differential Diagnosis

  8. Laboratory Test Results • Decreased GABA levels • Decreased glutamic acid decarboxylase • decreased choline- acetyltransferase

  9. Additional Tests Imaging: CT or MRI will show: Cerebral atrophy and atrophy of basal ganglia Head CT: enlarged lateral ventricle PET: reduced glucose utilization, lowered dopamine receptor binding Electron microscopy: loss of small neurons and increase in dense synaptic vesicles in presynaptic nerve terminals

  10. Special Tests • Genetic linkage • Single faulty gene (4p 16.3)

  11. Diagnosis • Huntington's Disease.

  12. Treatment General measures: • Genetic counselling • Symptomatic treatment- dopa. Drugs • Speech/ OT • Activity: as long as possible. Smoking cessation! • Diet: no restrictions but can recomment Coenzyme Q10

  13. Treatment cont’d • Drugs: • For behavioural problems • For rigidity • For depression Also can consider drugs for: Presynapticdopaine- depleting agents, tricyclic antidepressants, antipsychotics

  14. Possible complications • Choking • Subdural hematoma • Personality changes • SUICIDE

  15. Expected course/ prognosis • Very poor. • Fatal outcome within 20 years • Death ultimately caused most often by pneumonia

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