Creutzfeldt-Jakob Disease: Symptoms, Diagnosis and Care

The recent diagnosis of Creutzfeldt-Jakob disease (CJD) disclosed by aviation specialist and influencer Lito Sousa has drawn attention to one of modern medicine’s rarest and most complex neurodegenerative conditions. Caused by altered proteins that progressively and severely damage brain tissue, the condition affects cognition, motor function and the central nervous system.

CJD is estimated to occur globally in just 1 to 2 people per million each year. Contrary to its common association in the public imagination, the overwhelming majority of cases are unrelated to so-called ‘mad cow disease’. Exposure to contaminated bovine products is linked to variant CJD (vCJD), an exceptionally rare form of the illness. The most common type is sporadic CJD, accounting for around 85% of cases worldwide, in which the protein alteration develops without an apparent cause or recognised pattern of transmission.

How Creutzfeldt-Jakob disease damages the brain

Dr Flávia Timbó, a neurologist at Rede Oto, explains that altered prions trigger a chain reaction, causing healthy proteins to fold incorrectly as well. “This build-up causes rapid and widespread destruction of neurons, leaving the brain with a sponge-like appearance. As this is an accelerated degenerative process, preserving the patient’s dignity and well-being requires an accurate diagnosis and multidisciplinary support,” the doctor clarifies.

Symptoms and progression of CJD

The disease advances quickly. Its early stage can resemble other neurological conditions, before rapidly developing into cognitive decline and physical changes. The main signs include:

• Motor symptoms: ataxia (loss of motor coordination and balance), tremors, Parkinsonian-pattern muscle stiffness and myoclonus (involuntary jerks and contractions).
• Cognitive and behavioural symptoms: rapidly progressing memory loss, mental confusion, aphasia (difficulty communicating), and sudden changes in mood or personality.
• Loss of vision and perception: difficulty with spatial orientation and progressive loss of visual acuity.

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Diagnosis and supportive care

According to the Rede Oto specialist, confirming the diagnosis requires specific tests to detect the signs CJD leaves in the brain. Doctors assess the patient’s clinical presentation and confirm the suspicion through magnetic resonance imaging (which reveals changes in brain tissue), an electroencephalogram (which measures the brain’s electrical activity), and cerebrospinal fluid analysis, using fluid collected from the spine to look for proteins and disease-specific markers. Combining these three tests makes it possible to identify the condition accurately and quickly.

As CJD progresses rapidly and medicine is still seeking effective curative therapies, the treatment protocol focuses on the patient’s quality of life and symptom control.

“The role of healthcare networks and specialist teams is to ensure comprehensive support for the patient and their family. Proper management of pain, spasms and sleep disturbances, combined with multidisciplinary care, is essential to provide comfort at every stage,” concludes the Rede Oto specialist.