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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
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
slide4
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.
slide5
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…

pe results
PE Results
  • HEENT:

Facial twitching

Abnormal eye movements

Neuro: bradykinesia

Neck and lungs: clear

Cardiac: RRR

laboratory test results
Laboratory Test Results
  • Decreased GABA levels
  • Decreased glutamic acid decarboxylase
  • decreased choline- acetyltransferase
additional tests
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

special tests
Special Tests
  • Genetic linkage
  • Single faulty gene (4p 16.3)
diagnosis
Diagnosis
  • Huntington's Disease.
treatment
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
treatment cont d
Treatment cont’d
  • Drugs:
  • For behavioural problems
  • For rigidity
  • For depression

Also can consider drugs for:

Presynapticdopaine- depleting agents, tricyclic antidepressants, antipsychotics

possible complications
Possible complications
  • Choking
  • Subdural hematoma
  • Personality changes
  • SUICIDE
expected course prognosis
Expected course/ prognosis
  • Very poor.
  • Fatal outcome within 20 years
  • Death ultimately caused most often by pneumonia