A woman from Michigan, in the United States, died from a rare degenerative brain disorder similar to mad cow disease – which has a 100% mortality rate and has no cure.
Arlene VonMyhr, 55, was rushed to the emergency room after waking up with signs of a stroke. However, she returned home without a diagnosis.
Credits: reproduction/Facebook/Gary VonMyhr
North American woman died without knowing what disease she had
Over the next few weeks, she returned to the hospital four more times, with slurred speech and balance problems. The fourth time, however, she ended up dying, on February 19.
Doctors performed a lumbar puncture which finally diagnosed her with Creutzfeldt-Jakob disease.
What is Creutzfeldt-Jakob disease?
Creutzfeldt-Jakob disease (CJD) affects the central nervous system.
It is a form of transmissible spongiform encephalopathy, a group of neurodegenerative diseases characterized by the accumulation of abnormal proteins, called prions, in the brain.
These prions cause progressive damage to brain tissue, leading to severe neurological symptoms and eventually death.
The risk of contracting the most common form of the condition is very low. Therefore, the disease is extremely rare.
Credits: Love Employee/istock
Abnormal proteins accumulate in the brains of patients with this disease
Types of the disease
This is the most common form of the disease, but it occurs without an apparent cause. It usually affects people between 60 and 70 years of age and develops gradually over months to years.
Also known as “mad cow disease”is associated with the consumption of meat contaminated with the prion responsible for the disease, known as bovine spongiform encephalopathy (BSE) prion.
This form of the disease is more common in young people and may have a different clinical course than sporadic CJD, with prominent psychiatric symptoms initially.
This form of the disease is genetically inherited and is caused by mutations in the genes responsible for the production of prion proteins.
It generally has an earlier onset and may have a more rapid clinical course than sporadic CJD.
What are the symptoms of Creutzfeldt-Jakob disease?
- behavior changes
- cognitive deterioration
- motor coordination problems
- deterioration of speech and vision
- muscle spasms
- convulsions
- total disability and death
There is no curative treatment for CJD, and therefore the prognosis is generally poor, with most patients dying within a year of the onset of symptoms.
How is the disease diagnosed?
Diagnosis of Creutzfeldt-Jakob disease (CJD) is often challenging due to its rarity and complexity. Typically, a doctor uses a combination of approaches to determine the presence of the disease.
Initially, the doctor takes a detailed clinical history, analyzing the patient’s symptoms and any relevant risk factors. He then performs a complete physical examination to evaluate neurological signs and changes in mental status.
Imaging tests, such as magnetic resonance imaging (MRI) of the brain, often help look for structural changes in the brain that may be characteristic of CJD. Although they are not specific, these tests can help exclude other conditions.
Additionally, in some cases, a lumbar puncture samples cerebrospinal fluid (CSF) to look for markers of neurodegeneration. These markers, such as tau protein and 14-3-3, may indicate the presence of the disease.
Finally, in more complex situations, a brain biopsy can be useful, allowing the analysis of brain tissue. However, due to its invasiveness and risks, this procedure is only resorted to in exceptional cases.
