Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob disease is a rare, rapidly progressive neurodegenerative disorder caused by abnormal proteins known as prions. These misfolded proteins lead to severe damage of brain tissue, resulting in a sponge-like appearance of the brain. Creutzfeldt-Jakob disease progresses quickly and is always fatal, often leading to death within months to a year after symptoms begin. The condition affects adults worldwide and occurs in several forms, including sporadic, inherited, and acquired types.

Symptoms

Symptoms of Creutzfeldt-Jakob disease typically worsen rapidly over a short period of time.

Common symptoms include:

• Rapidly progressive dementia

• Memory loss and confusion

• Personality and behavior changes

• Difficulty with coordination and balance

• Muscle stiffness or jerking movements

• Vision disturbances

• Slurred speech

• Weakness or fatigue

• Difficulty swallowing in later stages

As the disease advances, patients often lose the ability to move, speak, or care for themselves.

Causes

Creutzfeldt-Jakob disease is caused by prions, which are infectious, misfolded proteins that trigger normal proteins in the brain to also misfold.

Types of causes include:

• Sporadic cases with no identifiable cause

• Inherited genetic mutations affecting the prion protein gene

• Acquired exposure through contaminated medical instruments or transplanted tissues

• Variant forms linked to consumption of contaminated animal products

Prions are resistant to standard sterilization methods and lead to irreversible brain damage.

Risk factors

Although Creutzfeldt-Jakob disease is rare, certain factors may increase risk depending on the type.

Risk factors include:

• Increasing age, most commonly between 50 and 75 years

• Family history of inherited prion disease

• Specific genetic mutations

• Exposure to contaminated surgical instruments or biological materials

• Consumption of contaminated food products in variant forms

Most cases occur sporadically without known risk factors.

Complications

Creutzfeldt-Jakob disease leads to severe neurological decline and life-threatening complications.

Possible complications include:

• Complete loss of cognitive function

• Inability to walk or communicate

• Recurrent infections such as pneumonia

• Difficulty swallowing leading to aspiration

• Coma and death

The disease course is aggressive, and supportive care is the primary approach.

Prevention

There is no way to prevent sporadic or inherited Creutzfeldt-Jakob disease, but measures can reduce the risk of acquired forms.

Preventive strategies include:

• Strict infection control and sterilization procedures in healthcare settings

• Careful screening of organ and tissue donors

• Avoidance of high-risk animal products in affected regions

• Adherence to public health guidelines for food safety

• Genetic counseling for families with inherited forms

Early recognition allows for appropriate care planning and infection control, although it does not change the disease outcome.