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Creutzfeldt–Jakob disease
Common variable immunodeficiency (CVID) is a group of disorders characterized by low levels of a type of protein known as immunoglobulins (Ig). Because of low level of Ig, the immune system cannot make antibodies that fight bacteria, viruses or other toxins in the body. This leads to frequent infections, particularly in the sinuses, lungs, and digestive tract
Prevalence
1 / 1 000 000
1 - 1.5 / 1,000,000
US Estimated
1 - 2 / 1,000,000
Europe Estimated
Age of Onset
adults - older adults
ICD-10
A81.0
Inheritance Pattern
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, invariably fatal neurodegenerative disorder believed to be caused by an abnormal isoform of a cellular glycoprotein known as the prion protein.
5 Facts you should know
FACT
Creutzfeldt–Jakob disease (CJD) is a neurodegenerative disease that is incurable and invariably fatal
FACT
Infection with this disease leads to death usually within 1 year of onset of illness
FACT
CJD is at times called a human form of mad cow disease (bovine spongiform encephalopathy or BSE)
FACT
CJD is caused by an infectious agent called a prion
FACT
CJD causes the brain tissue to degenerate rapidly, and as the disease destroys the brain, the brain develops holes and the texture changes to resemble that of a sponge
Interest over time
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Common signs & symptoms
Rapidly progressive dementia, typically evolving over weeks to months
Cognitive decline with behavioral or personality changes
Myoclonus, often stimulus-induced
Cerebellar ataxia (gait instability, dysarthria)
Visual disturbances, including cortical blindness
Pyramidal and extrapyramidal signs (rigidity, bradykinesia)
Akinetic mutism in advanced stages
Current treatments
No curative or disease-modifying treatment currently available
Supportive and palliative management
Symptom control (myoclonus, agitation, pain)
Nutritional and hydration support
Prevention of complications (aspiration, infections)
Early palliative care involvement
Advance care planning and goals-of-care discussions
Family counseling and psychosocial support
Infection control and prevention
Strict prion decontamination procedures for medical instruments
Adherence to institutional prion-handling protocols
Management is focused on comfort, safety, and quality of life, given the uniformly progressive and fatal nature of the disease.