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Creutzfeldt-Jakob disease (CJD)

Overview

CJD is a life-threatening and rare neurodegenerative brain disorder. It can be sporadic, familial (inherited), iatrogenic (acquired) or variant (infection). The symptoms progress rapidly causing deterioration in sensorium and encephalopathy, usually terminating fatally within 6–12 months.

It is caused due to misfolding of prion protein

  • Rapidly progressive dementia
  • Behaviour changes
  • Hallucinations
  • Jerky movements/ myoclonus
  • Balance and coordination dysfunction
  • Speech impairment

  • Age. Sporadic CJD occurs around 60 years of age. Familial CJD is presented slightly earlier, whereas Variant Creutzfeldt-Jakob disease (vCJD) affects individuals usually in their late 20s.
  • Genetic changes that cause the disease
  • Exposure to contaminated tissue
  • Eating contaminated beef

Neurologist

  • EEG to determine bilateral periodic epileptiform discharges typically repeating at 1–1.5 seconds
  • CSF examination for biomarkers like 14-3-3, RT-QuIC for sporadic CJD
  • MRI to determine cortical ribboning and inverse hockey stick sign
  • Brain biopsy

  • No specific treatment
  • Symptomatic control of seizures and myoclonus
  • Supportive care for pain relief
  • Palliative care

Disclaimer:

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