Creutzfeldt-Jakob disease is an extremely rare brain disorder. It’s caused when a normal protein changes shape and becomes disease-causing “prions.” These prions destroy brain cells. The symptoms usually get worse very quickly and lead to death.
There’s no cure, but doctors can help people stay comfortable. They may prescribe painkillers if needed.
Symptoms
Creutzfeldt-Jakob disease (CJD) is a serious, rapidly progressive, brain disorder. It’s a type of transmissible spongiform encephalopathies or TSEs, which are a group of conditions caused by faulty proteins called prions. Prions are normal cellular proteins that fold incorrectly, causing the brain cells to break down and die. Eventually, the affected person loses the ability to think and move normally, and they become unable to take care of themselves. There is no treatment for CJD, and it’s always fatal.
People with CJD are usually in a coma when they die. The cause of the disorder is unknown. It’s thought that it’s passed from one person to another when they have a medical procedure that involves tissue from the same animal (such as corneal transplantation or a liver transplant). A hereditary form of the disease is less common and occurs when a abnormal gene causes the prion protein to change. A variant form of the disease, acquired by eating contaminated beef (bovine spongiform encephalopathy or “mad cow” disease), has occurred in only 233 people.
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The first symptoms of CJD are memory problems and confusion. Then, the muscles jerk involuntarily (called myoclonus), and coordination is lost. Walking becomes unsteady and may resemble the way someone who is drunk walks. Affected people are also often irritable and depressed, and they lose their ability to care for themselves. Over time, the disease can lead to loss of speech and a coma.
There is no treatment that can stop or reverse the underlying damage to the brain caused by CJD and other prion diseases. Medications can relieve some of the symptoms, such as pain, muscle stiffness and twitching, and depression. Doctors can also help a family cope with the symptoms and the loss of a loved one.
Because other disorders can cause similar symptoms, doctors will check for them. For example, they’ll look for signs of infection or other problems with the brain. Magnetic resonance imaging may be used to look for changes in the brain. There is no cure for CJD, and it’s impossible to predict when a person will get the disease or how fast their condition will progress.
Diagnosis
CJD happens when protein in the brain, called prion, changes to an abnormal shape. This triggers other prion proteins in the brain to fold into the same abnormal shape. This process destroys brain cells, leading to problems with thinking and behavior. It can also cause uncontrolled muscle movements and spasms, a change in vision or balance problems when walking. It can also lead to loss of muscle mass and weight (wasting). People with sporadic CJD don’t know what caused their illness. People with familial CJD have a genetic mutation that’s passed down from parents or grandparents. They usually get the disease younger, and it progresses more quickly.
CJD is the most common type of a group of diseases known as transmissible spongiform encephalopathies, or TSEs. Infection with these diseases causes a variety of symptoms, including dementia that gets worse very fast. Other forms of dementia, such as Alzheimer’s or Lewy body dementia, progress more slowly.
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There are 4 main types of CJD. Sporadic CJD develops spontaneously for no reason, and it accounts for 85 percent of cases. Familial CJD occurs in family members, and it’s more likely to affect women than men. Variant CJD, or vCJD, happens when a person eats meat from cattle that had bovine spongiform encephalopathy, or mad cow disease.
It can take a few years between when you’re exposed to the wrong kind of prion and when you begin to show signs of the disease. Early symptoms are similar to those of depression or anxiety, and can include mood swings, social withdrawal, difficulty moving or walking and involuntary jerky movements (myoclonus). As the disease progresses, you have trouble remembering things and have more difficulty thinking. You may be unable to move, speak or care for yourself, and will need full-time care.
There’s no cure for CJD, but treatment focuses on helping you feel comfortable. It can include medicines to relieve anxiety and depression, and painkillers. There are also therapies that can help with movement and balance problems. A specialized form of magnetic resonance imaging (MRI) can detect certain brain changes that are characteristic of CJD. A spinal tap (lumbar puncture) can check for the presence of prion proteins in your cerebrospinal fluid (CSF). But studies suggest that these tests don’t accurately predict whether you have classic or variant CJD.
Treatment
Creutzfeldt-Jakob disease progresses rapidly, and most people die within a year. There is no known cure for this disease, and medications can’t slow or stop its progression. Drugs that have been tested in laboratory experiments with the disease haven’t shown any benefit. They can, however, help relieve some symptoms.
Creutzfieldt-Jakob disease (CJD) is caused by a protein that’s similar to another protein, called a “prion.” A prion causes normal proteins to fold improperly and change shape, affecting other proteins in the brain and changing the way they function. In CJD, the abnormal prion builds up until it destroys brain cells and causes the symptoms of the disease. There are four types of CJD: sporadic, hereditary, variant and acquired. Sporadic CJD accounts for the majority of cases and happens without a known cause. The first symptom is usually memory loss, which is more severe in older people. It can also lead to behavioral changes and a loss of coordination (ataxia).
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Hereditary CJD is less common. It’s when you inherit the abnormal prion from a parent. The first symptom is usually involuntary movements and a lack of coordination, and it can later lead to dementia and a coma. Variant CJD is a form of acquired CJD that’s most likely caused by eating meat from cattle that had bovine spongiform encephalopathy (BSE, or “mad cow” disease). It starts more quickly than other forms of CJD and affects younger people.
There is no treatment that stops or reverses the process of brain cell destruction in CJD or other prion diseases. Doctors prescribe painkillers to treat any pain, and muscle-relaxing or seizure medicines may help with tremors or seizures. People with a psychiatric diagnosis may be treated with drugs that help control anxiety and depression.
There is no cure for Creutzfeldt-Jakob, but doctors are continuing to study the underlying process in order to develop a treatment. Research at the National Prion Clinic focuses on finding ways to control symptoms and keep people comfortable. This includes treating psychological symptoms, like anxiety or depression, with sedatives and antidepressants, and controlling muscle stiffness with medication such as clonazepam.
Prevention
Creutzfeldt-Jakob disease (CJD) is a progressive, rapidly worsening brain disorder that causes unique changes in the brain. These changes affect muscle coordination, thinking and memory. The symptoms of CJD are very similar to those of other progressive dementias, including Alzheimer’s and Huntington’s diseases, but CJD symptoms progress faster and more severely.
There are several ways to prevent CJD. Some cases of the disease occur spontaneously for unknown reasons (sporadic CJD). Others are caused by inheriting a genetic mutation (familial CJD). In most cases, though, CJD develops because of eating contaminated meat. The most common form of contaminated meat is beef from cattle that have been infected with bovine spongiform encephalopathy, or mad cow disease. Since the link between BSE and variant CJD was discovered in 1996, strict controls have prevented meat from infected cattle entering the food supply.
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The earliest signs of CJD are often mental and behavioral, such as depression or social withdrawal. A family member or friend may be the first to notice these changes. As the disease progresses, the person becomes increasingly unable to move or speak and eventually needs full-time care. The average duration of the illness is four to six months, and 90% of people die within a year.
While there is no cure or treatment for CJD, doctors can try to make the person comfortable and monitor the condition for signs of improvement or decline. There is also a test available that can confirm the diagnosis by examining a sample of the person’s brain tissue for changes characteristic of the disease.
It is also possible to infect others by having a medical procedure that uses human or animal tissue that is later found to be infected with CJD, such as a brain surgery, blood transfusion, corneal transplant or pituitary hormone graft. However, special surgical and disinfection procedures reduce this risk significantly.
