Creutzfeldt-Jakob disease (CJD) is a rare disorder – only around 350 new cases are diagnosed in the United States each year, according to a fact sheet created by the National Institutes of Health.
The rarity of the disease means that many health practitioners have never encountered a case. Those who are dealing with a CJD diagnosis will need a strong support team, and, due to the unique nature of the disease, even the support team may need a great deal of assistance and encouragement.
What Is Creutzfeldt-Jakob Disease?
A neurodegenerative disease, CJD belongs to a class of disorders known as TSEs, or transmissible spongiform encephalopathies. To understand a TSE like Creutzfeldt-Jakob disease, you can break down the phrase into each individual term.
- Transmissible means that the diseases in this category can be passed from one person or animal to another, although they don’t travel through the air or by casual contact.
- Spongiform refers to the sponge-like appearance of the cerebral cortex, due to tiny holes that appear as the disease progresses.
- Encephalopathies are simply diseases of the brain.
TSEs are also known as prion diseases because their root cause is misfolded prion proteins that damage or destroy brain cells. Most of us have heard of at least one animal prion disease: mad cow disease. Mad cow disease is also known as bovine spongiform encephalopathy and is believed to be transferable to humans under certain circumstances. Hunters and outdoors enthusiasts may be familiar with chronic wasting disease, which commonly affects deer.
Dementia and the Types of CJD
Creutzfelt-Jakob disease causes rapidly progressing dementia. Most cases of CJD – about 85 percent – have no known cause and are categorized as sporadic CJD. Onset of sporadic CJD usually occurs in individuals aged 45 to 75, with the average emergence occurring around 65.
The second major type, hereditary CJD, is believed to be caused by a genetic mutation, and onset is usually earlier. A very few cases are acquired through contact with infected human tissue, usually during a medical procedure.
What Are the Symptoms of CJD?
Creutzfeldt-Jakob disease causes mental deterioration or dementia, which progresses rapidly and is ultimately fatal. The impact on the body can be expressed in a variety of ways. Some of the symptoms fall into the psychiatric or psychological category and include:
- Anxiety
- Depression or general apathy
- Personality changes and mood swings
- Disorientation or confusion
- Memory loss and judgment problems
Others are symptoms of Creutzfeldt-Jakob disease are physical, including:
- Difficulty seeing
- Trouble walking
- Problems speaking and swallowing
- Stiff muscles and involuntary movement
What Are the Stages of CJD?
For a degenerative disorder, Creutzfeldt-Jakob disease is an uncommonly swift-moving disease. Although it may incubate in the body for many years, once symptoms appear, the disease progresses rapidly. The average duration from diagnosis to death is usually less than a year. Because it progresses so rapidly, stages of the disease are not clearly defined. In general, however, this is what to expect during the disease’s progression.
- Early signs of CJD are usually neurological. They may include problems with balance and coordination, which usually present as difficulty walking. Other early symptoms include blurred vision, slurred speech, and numbness or prickling sensations.
- Early symptoms progress to more serious ones. Vision problems may advance to blindness. Coordination problems could become severe and involuntary jerking may occur. Patients may experience difficulty swallowing.
- Psychological symptoms may appear. These may include memory loss, agitation, aggressiveness, and other inappropriate emotional responses.
- The final stage brings severe symptoms. Patients will become bedridden and lose the ability to speak. They may slip into a coma. The cause of death in most cases will be either an infection such as pneumonia or failure of the heart and respiratory system.
Causes and Risk Factors for Creutzfeldt-Jakob Disease
Determining the cause of Creutzfeldt-Jakob disease has been a difficult process. Today, researchers have reached a consensus about what causes the disorder, but studies are ongoing. Many sources refer to what “is believed” about CJD. Further research could alter our understanding of the disease. But here’s what scientists currently believe.
Creutzfeldt-Jakob disease is a prion disease, which means it is caused by problems with the prion protein. Prion proteins occur naturally in the body but can become misfolded through alterations. The misfolded proteins can attach themselves to other proteins, causing them to become misshapen, too. The malformed proteins accumulate in the brain, where they damage tissue and kill cells, causing dementia. Science has been unable to discover a way to halt the process.
In the hereditary form, these changes are believed to be triggered by a genetic mutation. In the sporadic form, the altered cells are believed to be mistakes at the cellular level, which is why CJD usually occurs later in life. The mechanisms responsible for producing cells in the human body make more mistakes as the body ages.
No risk factors other than age and genetics have been identified for sporadic CJD. The hereditary form of CJD is autosomal dominant, which means that you need only one copy of the genetic mutation to get the disease. The child of someone with hereditary CJD has a 50 percent chance of inheriting the mutation.
How Is CJD Diagnosed?
The only completely accurate way of diagnosing Creutzfeldt-Jakob disease is through a brain biopsy, and the risks of that procedure mean that it is seldom used for CJD. Instead, doctors rely on a combination of factors to reach a diagnosis of probable or possible CJD. The following tests are helpful, although not definitive.
- Magnetic Resonance Imaging (MRI) may reveal shrunken or diseased areas of the brain.
- An electroencephalogram (EEG) can pick up a distinctive electrical pattern that is seen in sporadic CJD.
- A lumbar puncture, commonly known as a spinal tap, can be examined for a protein that is usually present in the cerebrospinal fluid of those with CJD.
Doctors will also consider observable signs of disease and the symptoms reported by the patient when reaching a diagnosis. The primary concern is distinguishing CJD from other dementia disorders such as Alzheimer’s. Because they can have similar symptoms, it is common for a misdiagnosis to occur in the early phases of CJD, although CJD’s rapid progression can help physicians determine the correct illness.
CJD Treatment and Care
Currently, no known treatment can stop or slow the progression of Creutzfeldt-Jakob disease. Instead, treatment is centered around keeping the patient as comfortable as possible. Medications can relieve symptoms such as muscular jerking and pain.
Although a diagnosis of CJD can be overwhelming for both the individual and the individual’s family, moving quickly to develop a care plan is vital. Caring for someone with CJD at home can be challenging. Even if the individual’s first location for care is a private home, the family should consider the steps that will need to be taken as the condition progresses.
People with Creutzfeldt-Jakob disease will require help with eating, bathing, toileting, and other activities of daily living fairly soon after onset. They will need assistance moving from place to place. Further developments such as incontinence and the inability to swallow will require more advanced care.
The psychiatric symptoms that often come with dementia can be especially difficult for family members, as CJD can cause radical personality changes and may induce delusions, paranoia, and hallucinations.
Because CJD symptoms can be so challenging for caregivers, many families opt for a supportive living environment staffed by professionals. A memory care community can provide the expert care that someone living with CJD requires while allowing family members full participation in decision-making. Those with CJD often do best in an environment that is soothing and free of loud noises and bright lights, and this is easily achieved in an appropriate care community. Also, this type of setting allows visitors to come and go without putting further stress on family caregivers.
For more information on memory care for CJD and other types of dementia, contact The Brielle. Our staff has experience with both the physical and mental symptoms that come with dementia and can provide the care and quality experience that those with CJD need.