Parkinson's Diagnosis Questions
Advice for the newly diagnosed: A diagnosis of Parkinson's disease is life-changing. But breathe. You are not alone. Fellow patients on our†Patient Council have identified the key questions that they dealt with during their diagnosis and in the days following.
What is Parkinson's disease and what causes it?
Parkinson's disease is a chronic, degenerative neurological disorder that affects one in 100 people over age 60. While the average age at onset is 60, some people are diagnosed at 40 or younger. There is no objective test, or biomarker, for Parkinson's disease, so the rate of misdiagnosis can be relatively high, especially when the diagnosis is made by a non-specialist. Estimates of the number of people living with the disease therefore vary, but recent research indicates that at least one million people in the United States, and more than five million worldwide, have Parkinson's disease.
Parkinson's disease was first characterized extensively by an English doctor, James Parkinson, in 1817. Today, we understand Parkinson's disease to be a disorder of the central nervous system that results from the loss of cells in various parts of the brain, including a region called the substantia nigra. The substantia nigra cells produce dopamine, a chemical messenger responsible for transmitting signals within the brain that allow for coordination of movement. Loss of dopamine causes neurons to fire without normal control, leaving patients less able to direct or control their movement. Parkinson's disease is one of several diseases categorized by clinicians as movement disorders.
The exact cause of Parkinson's disease is unknown, although research points to a combination of†genetic†and environmental factors. If a continuum existed, with exclusively genetic causes at one end and exclusively environmental causes at the other, different Parkinsonís patients would likely fall at many different places along that continuum.
In the past 10 years, researchers have identified a number of rare instances where Parkinson's disease appears to be caused by a single genetic mutation. In these cases, the mutated gene is passed from generation to generation, resulting in a great number of Parkinson's disease cases within an extended family. On the opposite end of the continuum, in the early 1980s, a group of heroin users in California took drugs from a batch contaminated with a substance called MPTP. After ingesting this chemical, the drug users were stricken with a form of Parkinson's disease that was primarily, if not exclusively, "environmental" in origin.
For most Parkinson's patients, the cause lies somewhere in the middle. While many Parkinsonís patients report one or more family members with the disease, it is not always clear that one or several genes are the cause. Similarly, while some patients suspect that exposure to one or another chemical or environmental toxin caused their Parkinsonís disease, this also cannot be conclusively proved. Scientists currently believe that in the majority of cases, genetic and environmental factors interact to cause Parkinson's disease. Research into this subject continues aggressively every day. Unfortunately, however, it is generally impossible to determine what specifically caused an individual's Parkinsonís disease.
What are the risk factors for Parkinsonís disease? Is there anything that can be done to reduce the risk?
Because the causes of Parkinsonís disease are unknown, there is no scientifically validated preventive course to reduce the risk of its onset. The single biggest risk factor for Parkinsonís disease is advancing age. Men have a somewhat higher risk than women.
That being said, a number of studies have highlighted factors that are associated with either greater or lesser risk of Parkinson's disease. For example, smoking and caffeine consumption have been associated with lower rates of Parkinson's disease, while head injury and pesticide exposure have been associated with higher risk. While such studies do not definitively link these factors with Parkinson's disease one way or another, they highlight areas where further research may guide us to risk-prevention or treatment strategies.
I think I might have Parkinsonís disease and Iím not sure what to do.
Remember: Even if you experience symptoms common among people with Parkinsonís disease, they may in fact be brought on by a completely different condition altogether. The information on this Web site is for general information purposes only; any time you notice a change in your body with no obvious cause, it is critical to consult a health care professional.
You may want to see a neurologist if: you have trouble buttoning your shirt or tying your shoes; you feel stiff or rigid, or someone has told you that your face seems less expressive; youíve noticed that your fingers, hands or feet shake and you canít control them.
While visiting the doctor, try to be as specific as possible when describing your symptoms, and let the doctor advise you if further examinations are required. You may be referred to a movement disorders specialist, a neurologist with particular expertise in Parkinsonís disease and other movement disorders.
Dr. Joseph Jankovic, a member of our Scientific Advisory Board, developed the screening questionnaire below to help determine Parkinsonism and PD.
- Have you been getting slower in your usual daily activities?
- Is your handwriting smaller?
- Is your speech slurred or softer?
- Do you have trouble arising from a chair?
- Do your lips, hand, arms and/or legs shake?
- Have you noticed more stiffness?
- Do you have trouble buttoning buttons or dressing?
- Do you shuffle your feet and/or take smaller steps when you walk?
- Do your feet seem to get stuck to the floor when walking or turning?
- Have you or others noted that you don't swing one arm when walking?
- Do you have more trouble with your balance?
- Have you or others noted that you stoop or have abnormal posture?
Parkinson's disease is rare. Even if your answer to several of these questions is yes, it's more likely that you don't have Parkinson's than that you do. The most important†step you can take†is to see your doctor and get information about what is causing your symptoms.
If itís not Parkinsonís disease, what else could it be?
Early in the disease process, it may be difficult to know whether symptoms indicate Parkinson's disease or a syndrome that mimics it. Some conditions that could potentially be mistaken for Parkinson's disease include:
- Medication-induced parkinsonism. Medications frequently associated with the development of parkinsonism are those often prescribed as anti-psychotics or for major depression.
- Sometimes anti-nausea medications can also cause parkinsonism. Unlike Parkinson's disease, symptoms typically occur on both sides of the body simultaneously. These symptoms usually resolve within weeks or months of discontinuing the medication.
- Essential tremor is considered the most common neurologic movement disorder. It is a chronic condition characterized by involuntary, rhythmic tremor of a body part, most typically the hands and arms, especially when they are being used for activities such as writing or eating.
- Progressive Supranuclear Palsy (PSP). PSP is characterized by early onset of imbalance, frequent falls, rigidity of the trunk, and (eventually) eye-movement problems. Symptoms usually begin after age 50 and progress more rapidly than with Parkinsonís disease.
- Normal Pressure Hydrocephalus (NPH). NPH is distinguished by a trio of symptoms: Gait problems, urinary incontinence and dementia. Experienced movement disorder neurologists can generally easily distinguish between NPH and Parkinsonís disease. Occasionally, a brain scan may be useful.
How is Parkinson's disease diagnosed?
The cardinal symptoms of Parkinson's disease are resting tremor, slowness of movement (bradykinesia) and rigidity. Many people also experience balance problems (postural instability). These symptoms, which often appear gradually and with increasing severity over time, are usually what first bring patients to a neurologist for help. Typically, symptoms begin on one side of the body and migrate over time to the other side.
There is no objective test (such as a blood test, brain scan or EEG) to make a definitive diagnosis of Parkinsonís disease. Instead, a doctor takes a careful medical history and performs a thorough neurological examination, looking in particular for two or more of the cardinal signs to be present. Frequently, the doctor will also look for responsiveness to Parkinson's disease medications as further evidence that Parkinson's is the correct diagnosis. (However, starting on medication right away can limit your ability to participate in clinical trials that urgently need newly-diagnosed Parkinsonís patients.)
In 2011, the Food and Drug Administration (FDA) approved a specialized imaging technique called DaTscan that allows doctors to capture detailed pictures of the dopamine system in your brain. It is the first FDA-approved diagnostic imaging technique for the assessment of movement disorders such as Parkinsonís disease. DaTscan alone canít diagnose Parkinsonís disease by itself, but it can help confirm a physicianís clinical diagnosis ó something that has never been possible before.
Unfortunately, because there is no definitive test for Parkinson's disease, and because Parkinsonís disease symptoms are similar to those of other neurological conditions, the misdiagnosis rate remains significant. It is worthwhile to consider a second opinion, and to reach out to a neurologist with specific expertise in movement disorders.
Iíve been diagnosed with Parkinsonís disease. Should I get a second opinion?
Getting a second opinion is largely a matter of personal choice. But keep in mind that Parkinsonís disease is often difficult to diagnose accurately, particularly when symptoms are mild. There is no simple diagnostic test, and approximately 25 percent of Parkinsonís disease diagnoses are incorrect. Parkinsonís disease starts out with such subtle symptoms that many physicians, who are untrained in it, fail to provide an accurate diagnosis. In fact, even the best neurologists can get it wrong.
We would recommend that unless your doctor is particularly experienced in this area, you consult with a movement disorders specialist. A good neurologist will understand your desire for confirmation. If it is affordable (insurance doesn't always cover second opinions), and brings peace of mind, a second opinion can help you and your loved ones come to terms with your disease.
How can I cope with my diagnosis?
Breathe. You are not alone. There is much you can do to proactively affect the course of your Parkinsonís disease, and at least one very good reason to do it: Many neurologists report that symptom deterioration is often significantly slower in those who take a positive and proactive stance toward their condition than in those who do not. It would be ridiculous to suggest that a positive mental attitude is achievable all the time. But there are various methods that can help enormously to remain upbeat about life. To sum up:
- Find a doctor you like, and who will partner with you on an evolving medication plan.
- Participate in research. Many Parkinsonís clinical trials ó particularly those seeking treatments that could slow or stop disease progression ó urgently need newly-diagnosed Parkinsonís patients. This window will close soon, so make the most of it while you can ó for your own benefit and for other Parkinsonís patients. Fox Trial Finder makes it easy to find the trials that need someone with your specific medical history (whether you have Parkinsonís disease or not).
- Exercise. Many people cite swimming, walking and yoga as favorites.
- Engage in challenging activities that you enjoy: classes, artwork, travel, community work, Parkinsonís disease advocacy work.
- Stress reduction is a must ó stress worsens every Parkinsonís disease symptom.
- Connect with others and seek counseling to supplement medical treatment for mental ills. Don't let yourself become isolated. Pick up the phone! Send an email! Write a letter! Join a group! Above all, don't wait for family and friends to call first.
- Learn all you can about your disease. Knowledge is power, and continuous learning keeps you empowered, informed and in control.
- Ask your doctors any questions you may have, and be your own advocate.
When I find myself feeling lonely, left out and forgotten, I pick up the phone and call a friend, who invariably says, 'It is so good to hear from you! I have been meaning to call but the kids have been sick and the car is in the shop and I'm worried about Mother, andÖ' Self-pity is dispelled the instant I'm reminded that everyone is engaged in the complications of life ó and that maybe I can lend a sympathetic ear.
- Carey Christensen (Patient Council Member)
What does Parkinsonís disease mean for me?
Although there is no cure for Parkinsonís disease yet, there are a variety of treatments that can allow you to lead a fulfilling and productive life for many years to come. Many symptoms can be relieved by medications, though over time these can become less effective and can produce undesirable side effects, such as involuntary movements known as dyskinesia.
There are also surgical interventions, such as deep brain stimulation (DBS), which involves the implantation of electrodes in the brain. Because of the risks inherent in this type of treatment, most patients normally do not consider it until the medications they have been using no longer provide them with meaningful relief.
There is also much that you can do for yourself in terms of taking charge of your health and making lifestyle changes, particularly incorporating daily exercise, which will help in managing your disease. For further information, please refer to the ďLiving with Parkinson'sĒ page.
What are the range of symptoms for Parkinson's disease?
People are generally most familiar with the motor symptoms of Parkinson's disease, since they are the most externally noticeable. These symptoms, which are also called the "cardinal" symptoms of Parkinsonís disease, are resting tremor, slowness of movement (bradykinesia), postural instability (balance problems) and rigidity. Some other physical symptoms such as gait problems and reduced facial expression are also of note. These are due to the same discoordination of movement that causes the better-known tremor and slowness.
There is also increasing recognition of the importance of other Parkinsonís disease symptoms that are sometimes called "non-motor" or "dopamine-non-responsive." While neither of these terms is ideal, these symptoms are common and can have a major impact on Parkinsonís patients. For example, cognitive impairment, ranging from mild memory difficulties to dementia, and mood disorders, such as depression and anxiety, occur frequently. Also common are sleep difficulties, loss of sense of smell, constipation, speech and swallowing problems, unexplained pains, drooling and low blood pressure when standing.
Parkinson's disease symptoms manifest differently in different patients. Many patients experience some symptoms and not others, and even the pace at which the disease worsens varies from person to person.
My grandfather, mother and brother all had Parkinsonís disease. Now I have it. Does that mean my children will get it?
While a small percentage of Parkinsonís disease cases are caused by genetic changes, the large majority are not. Nonetheless, scientific data over the past several years supports the emerging belief that genetics plays a more significant role in Parkinsonís disease than was previously thought.
Understanding in this field is evolving rapidly. Today, most scientists believe that the majority of Parkinsonís disease cases are likely caused by one or more genetic factors combined with exposure to one or more environmental neurotoxins, such as pesticides or other chemicals.
Am I going to wind up like the people I saw in the doctor's waiting room?
Parkinsonís disease is sometimes referred to as a "boutique" disease: It is unique to each person. You cannot predict which symptoms you will get, and when you will get them. There are broad paths of similarity as the disease progresses, but there is no guarantee that what you see is what you'll get. Some people wind up in wheelchairs; others still run marathons. Some can't clasp a necklace, while others make necklaces by hand.
It can be frightening to see the more pronounced symptoms of people who are in mid- or late-stage Parkinsonís disease, such as dyskinesia (the involuntary flailing or jerking body movements that can result from long-term use of levodopa, the most common Parkinsonís disease medication), freezing (the sudden inability to move) or festination (the short, almost running steps that seem to accelerate on their own). Awareness of such severe symptoms can understandably be upsetting, but remember that Parkinsonís disease is highly individualistic and your disease may never encompass any of these symptoms.
Will I die from Parkinsonís disease?
Most doctors say that Parkinsonís disease itself is not fatal. You die with Parkinson's disease, not from it. However, as symptoms worsen they can cause incidents that result in death. For example, in advanced cases, difficulty swallowing can cause Parkinsonís patients to aspirate food into the lungs, leading to pneumonia or other pulmonary conditions. Loss of balance can cause falls that result in serious injuries or death. The seriousness of these incidents depends greatly on the patient's age, overall health and disease stage.
How can I help speed a cure?
A Parkinson's disease diagnosis is life changing, and at times, it can feel as if things are spinning out of control. One way to regain control is to get involved in the search for a cure by volunteering for clinical research. Volunteers are vitally needed for clinical studies, which are the last and critical stage of research before new treatments are brought to market. There is a particular need for newly-diagnosed patients and for people who donít have Parkinsonís disease (referred to as ďcontrolsĒ).
First, check out Fox Trial Finder, a Web-based solution designed to connect willing volunteers with the clinical trials that urgently need them. Using state-of-the-art technology, Fox Trial Finder compares volunteer information, like location and medical history, with clinical trial eligibility requirements to find the best potential matches at study sites close to where you live. Visit Fox Trial Finder today to create a profile and learn more.
Additionally, learn about PPMI (Parkinson's Progression Markers Initiative), a clinical study to find biomarkers of Parkinsonís disease. Currently, your doctor depends on the description you provide of your symptoms and their own examination in making decisions regarding your diagnosis and management. Imagine having an objective marker they could use instead, much like a glucose measurement in the management of diabetes. Thatís the goal of PPMI.
Whether you yourself are facing the challenge of Parkinsonís disease, or are touched by the disease in another way, every single person can play a role in the search for a cure. The answer is in all of us.
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