What is the management and treatment for Creutzfeldt-Jakob disease (CJD)?

Management and Treatment of Creutzfeldt-Jakob Disease

There is no cure or disease-modifying treatment for CJD; management is entirely palliative, focused on symptom control and quality of life, with median survival of approximately 5 months from symptom onset. 1, 2

Confirm the Diagnosis First

Before initiating palliative care discussions, ensure diagnostic confirmation using the most accurate available testing:

• CSF RT-QuIC is the gold standard biomarker with 94-96% sensitivity and 100% specificity; a positive result alone is sufficient for probable CJD diagnosis. 1
• Brain MRI with DWI and FLAIR sequences showing T2 hyperintensity and diffusion restriction in cortical regions, caudate, and putamen supports the diagnosis. 1
• EEG may demonstrate periodic sharp wave complexes with 1:1 correlation to myoclonic jerks, which is highly characteristic. 1, 3
• CSF 14-3-3 protein and total tau elevation are supportive but less specific than RT-QuIC. 1

Symptomatic Management Algorithm

Myoclonus Control

• Treat myoclonic jerks pharmacologically using standard antimyoclonic agents (clonazepam, valproic acid, or levetiracetam), following principles similar to geriatric hospice care. 4
• Myoclonus can be severely distressing to patients and families and requires aggressive management. 4

Cognitive and Behavioral Symptoms

• Address rapidly progressive dementia, personality changes, and behavioral abnormalities with environmental modifications and caregiver education rather than pharmacologic intervention when possible. 1, 4
• Psychotropic medications may be needed for severe agitation but should be used cautiously given the rapid disease progression. 4

Motor Symptoms

• Manage extrapyramidal symptoms (rigidity, tremors) and cerebellar signs with physical therapy and positioning strategies. 2, 4
• As disease progresses to akinetic mutism, focus shifts to comfort measures and prevention of complications. 1, 2

End-Stage Care

• Prevent complications from immobility including pressure ulcers, aspiration pneumonia, and deep vein thrombosis. 4
• Address dysphagia and nutritional needs; discuss goals of care regarding artificial nutrition early in disease course. 4

Care Setting Considerations

• Early palliative care referral is critical given the rapid disease trajectory and median survival of 5 months. 1, 5
• Patients may be managed in neurological units, hospices, care homes, or at home depending on family resources and symptom burden. 5
• Input from clinicians with palliative care expertise is essential given the complexity of physical and psychosocial symptoms. 5

Family Support and Education

• Provide comprehensive education about disease progression, prognosis, and what to expect as the disease advances. 4
• Offer psychosocial support for families dealing with the devastating diagnosis and rapid decline. 5, 4
• Address bereavement support needs early, as families often experience complicated grief given the rapid trajectory. 5

Infection Control Precautions

• Implement appropriate precautions for transmissible prion disease, particularly in healthcare settings and for any invasive procedures. 5
• Educate healthcare personnel about transmission risks and proper handling of contaminated materials. 4

Critical Pitfalls to Avoid

• Do not delay palliative care referral while pursuing diagnostic confirmation; symptom management should begin immediately. 5, 4
• Do not pursue aggressive interventions or experimental therapies that compromise quality of life, as no disease-modifying treatments exist. 2, 6, 4
• Do not overlook the need for early goals-of-care discussions given the invariably fatal prognosis and rapid decline. 4, 7
• Avoid dismissing family concerns about rapid cognitive decline; CJD progresses over weeks to months, not years like typical dementias. 1, 6