Creutzfeldt-Jakob Creutzfeldt-Jakob Disease Disease Diagnosis & Management Diagnosis & Management August 13, 2012 August 13, 2012 Florence Kranitz, President, CJD Foundation Florence Kranitz, President, CJD Foundation Brian Appleby, M.D., Staff, Lou Ruvo Center for Brian Appleby, M.D., Staff, Lou Ruvo Center for Brain Health Brain Health Pierluigi Gambetti, M.D., Director, NPDPSC, Case Pierluigi Gambetti, M.D., Director, NPDPSC, Case
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Florence Kranitz, President, CJD FoundationFlorence Kranitz, President, CJD Foundation
Brian Appleby, M.D., Staff, Lou Ruvo Center for Brain HealthBrian Appleby, M.D., Staff, Lou Ruvo Center for Brain Health
Pierluigi Gambetti, M.D., Director, NPDPSC, Case WesternPierluigi Gambetti, M.D., Director, NPDPSC, Case Western
NO RELEVANT FINANCIAL NO RELEVANT FINANCIAL DISCLOSURESDISCLOSURES
NO RELEVANT FINANCIAL NO RELEVANT FINANCIAL DISCLOSURESDISCLOSURES
ObjectivesObjectivesObjectivesObjectives
I.I. Understand key elements of diagnosing Understand key elements of diagnosing CJDCJD
II.II. Demonstrate strategies for managing Demonstrate strategies for managing patients with CJDpatients with CJD
III.III. Demonstrate knowledge regarding the Demonstrate knowledge regarding the resources of the CJD Foundation & resources of the CJD Foundation & NPDPSCNPDPSC
““Pri-on”Pri-on”““Pri-on”Pri-on”
• proproteinaceous teinaceous and and ininfectiousfectious
• --ionion (infectious, e.g. (infectious, e.g. virionvirion))
• No nucleic acidNo nucleic acid
• Non-degradable by typical Non-degradable by typical sterilizationsterilization
At least two clinical signs:1.Dementia2.Cerebellar or visual symptoms3.Pyramidal or extrapyramidal symptoms4.Akinetic mutism
At least one of the following:1.PSWC on EEG2.14-3-3 in CSF and disease duration < 2 years3.High signal abnormalities in basal ganglia or at least two cortical regions (temporal, parietal, or occipital) on DWI/FLAIR brain MRI
Myoclonus/Hyperstartle Long acting benzodiazepines (e.g., diazepam)Anticonvulsants (e.g., valproic acid)
Seizures Anticonvulsants
Dystonia/Contractures Passive movement Long acting benzodiazepines, Botulinum toxin injections
Constipation Bowel regimen (e.g., dulcolax)
Dysphagia/Rumination Thickener, cueing
Behavioral/Environmental changes first
Start low and go slow
Re-evaluate frequently
AfterwardsAfterwardsAfterwardsAfterwards
• Arrange requested post-mortems prior to Arrange requested post-mortems prior to death death (www.cjdsurveillance.com)(www.cjdsurveillance.com)
• Frequent check-ins with family/caregiversFrequent check-ins with family/caregivers
• If postmortem performed, communicate If postmortem performed, communicate results (in person if possible)results (in person if possible)
• Encourage contact as neededEncourage contact as needed
SummarySummarySummarySummary
• Diagnosing CJD can be difficult and Diagnosing CJD can be difficult and frustratingfrustrating
• Getting a proper diagnosis and managing Getting a proper diagnosis and managing the care of a patient with CJD is stressfulthe care of a patient with CJD is stressful
• Care and management of patients with Care and management of patients with prion disease is supportive and entails prion disease is supportive and entails several disease specific interventionsseveral disease specific interventions