Frequently Asked Questions

Movement Disorders - General Questions back to top

Movement disorders are neurological illnesses in which there is a problem with movement control: either there is excessive movement, or a paucity of voluntary and automatic movements, that is unrelated to muscle weakness or paralysis.

Movement disorders are best diagnosed by neurologists. A referral to a neurologist is the first step. Your neurologist may then refer you to a specialized movement disorder physician or center.

Your neurologist may be able to help you find a movement disorder specialist.  The Bachmann-Strauss Dystonia & Parkinson Foundation website also has a “Locate a Physician” tab.

Dystonia General Questions back to top

Dystonia is a neurologic movement disorder that causes uncontrollable muscle contractions in one or more parts of the body. It may affect the face, neck, vocal cords, arms, legs or torso. People living with dystonia are affected in different ways. The severity of the disease varies from person to person. Many people who have dystonia can maintain a relatively normal lifestyle. Others may need full-time assistance.  For more medical information on dystonia please visit our "What is Dystonia" page.

Many physicians are still unfamiliar with the disease. Compared to other neurological disorders, it is relatively uncommon. Also unfortunately, it is common for dystonia to be misdiagnosed or to remain undiagnosed when symptoms are mild. More education is needed to better inform the medical community about the symptoms associated with dystonia, and how to provide proper treatment.

There are many different causes of dystonia. Primary dystonia (also called idiopathic torsion dystonia) is a condition in which dystonia is the only clinical feature and there is no evidence of cell death of another known cause. Primary dystonia is not degenerative and in some cases is caused by genetic mutations. Dystonia may result also from exposure to certain medications, birth injuries or strokes, or as a symptom of other neurological disorders (secondary dystonia). In the latter case, it may be degenerative.

Primary dystonia is not per se a life-threatening condition. However, episodes of severe dystonia (sometimes called "dystonic storms"), usually occurring in individuals who already have dystonia affecting many body parts, may require emergent medical attention if breathing or swallowing are affected. These episodes are usually triggered by abrupt changes in medications or by severe infections.

Dystonia and Parkinson's disease (or parkinsonism) are movement disorders that are closely related. First, both conditions can occur together in certain diseases. People living with Parkinson's disease may experience dystonia as a early symptom, or as a complication of treatment.  Dopa-responsive dystonia and rapid-onset dystonia-parkinsonism are hereditary forms of dystonia in which parkinsonism is often also present.  Some neurodegenerative disorders, such as Wilson's disease, may have both symptoms of dystonia and parkinsonism, in conjunction with other clinical manifestations. 

 

Second, dystonia and parkinsonism share common forms of treatment.  Anticholinergic medications (such as trihexyphenidyl or benztropin) and levodopa may ameliorate both conditions, and deep brain stimulation (DBS) surgery is a surgical treatment for both, although the final brain target may vary. Lastly, both parkinsonism and dystonia likely result from dysfunction of the same brain region, the basal ganglia, and thei output, although the ultimate cause is not known.  Further research is necessary to determine the various underlying genetic, environmental, or other underlying mechanisms that may play a role in causing these two related conditions.

Approximately 500,000 people are estimated to have dystonia in the United States and Canada, athough the severity of the condition varies tremendously person to person. One-third of dystonia patients are children.  Men, women and children of all racial and ethnic backgrounds can be affected with dystonia.

Clinical trials for dystonia are essential to collect data in order to further our scope in research to find better treatments a cure for dystonia. Thankfully there are a variety of clinical trials that are open to individuals who are interested in participating. Ask your neurologist or movement disorders specialist about participation in clinical trials. If you are receiving treatment at a specialized movement disorders center, there may be already ongoing trials in which you can participate. The website www.clinicaltrials.gov also has updated information in all current clinical trials performed in the United States.

 

You can also visit our Clinical Trials page for a list of websites where you can find information on different clinical trials happening in your area.

There are many different ways to make a difference in the dystonia community from raising awareness in your local community to raising needed funds for medical research.

 

Visit our "Getting Involved" page to learn about how you can contribute to the dystonia community.

The Bachmann-Strauss Foundation is one of the leading Foundations to fund cutting-edge research for dystonia and Parkinson’s disease by leveraging new ideas and advances in the fields. In addition, it is one of the only Foundations that focus it’s efforts researching the overlap between dystonia and Parkinson’s disease. Following a similar concept to that of a "venture capital", seed money is funded through annual grant awards; this helps to leverage new ideas and advances in the fields. This Foundation has contributed to many breakthroughs for these disorders from genetics to drug discovery. To date, the Foundation has funded over 230 research grants around the world.

 

Visit our Breakthroughs and Accomplishments webpage to learn all about our impact in finding a cure and better treatments.

Symptoms - Dystonia back to top

Dystonia causes involuntary repetitive twisting and sustained muscle contractions. These result in abnormal involuntary movements and postures. The symptoms usually begin in one body region such as the neck, face, an arm, and may spread with time to other body regions. When dystonia affects children, it often starts in a leg before spreading to other limbs and trunk. In adults, dystonia tends to remained localized to a body region and frequently affects the upper body.

If you think you may have dystonia and it has not yet been diagnosed, you should see your doctor and ask to be referred to a neurologist specialized in movement disorders. If you are diagnosed with blepharospasm, you may be treated by an ophthalmologist. If you have laryngeal dystonia, you may see an ear, nose and throat (ENT) specialist. During your consultation with the appropriate specialist, you will undergo an examination and you will also be asked many questions to establish if there is any family history of neurological problems including dystonia. Proper diagnosis will be contingent on results from a thorough patient history, a careful family history, and complete physical and neurological examinations. Laboratory tests, imaging studies and possibly genetic testing may be necessary to reach a diagnosis.

Dystonia is generally classified based on its cause, the age at which symptoms first occur, and the regions of the body affected. 

 

Based on the cause, dystonia is classified as primary, or secondary. Primary dystonia is a condition in which dystonia is the only clinical feature. There is no evidence of cell death or a known cause. It is also known as idiopathic torsion dystonia. The primary dystonias are often inherited from a parent. In non-primary or secondary dystonia, an acquired or exogenous cause is identified. This can be a prior stroke, a birth injury or exposure to certain drugs. Secondary dystonia may also represent one symptom of other neurological disorders, such as Parkinson’s disease.

 

Based on age of onset, dystonia is classified as early-onset, if it develops before age 21, or late onset, after age 21. The age at onset is an important indicator of whether the dystonia is more likely to spread to other body regions. The younger the patient is at dystonia onset, the higher the likelihood that the dystonia may involve other areas. In patients with primary late-onset dystonia, dystonia often begins in the upper body, such as the neck, head, neck, or an arm.

 

Based on regions of the body affected, dystonia is classified as:

  • Generalized Dystonia: is the most widespread form of dystonia; it affects the legs or one leg and the trunk, plus other regions, most commonly the arms.
  • Focal Dystonia: involves only one region of the body, such as the neck, vocal cords or hand. Focal dystonia includes blepharospasm, oromandibular dystonia, cervical dystonia (or spasmodic torticollis), laryngeal dystonia (also called spasmodic dysphonia) and limb dystonia.
  • Hemidystonia: affects one half of the body.
  • Segmental Dystonia: affects two or more adjacent body regions, such as the neck and an arm.
  • Multifocal Dystonia: affects two or more distant regions of the body, such as the upper face and the hand.
  •  

For even more information on dystonia, please visit our "What is Dystonia" page.

It is important to find the right doctor for the proper support in dealing with dystonia. It is important to find a neurologist who specializes in movement disorders, who is up-to-date on research and approaches to therapy and it is always good to get a second opinion, especially when you are going through the diagnosis and treatment process.

 

Visit our Finding Help page to search for a specialist near you.

After Diagnosis - Dystonia back to top

As with the onset of any long-term chronic medical condition, some people who develop dystonia may go through an initial period of depression, embarrassment and anger – or sometimes relief that there is an explanation for their symptoms. Most people manage to develop effective strategies for coping with the challenges that their condition brings. Appropriate diagnosis, successful treatments to lessen symptoms, effective pain control and the acquisition of sensory ‘tricks’ all help to ameliorate social situations.

 

Many patients obtain valuable information and comfort by joining support groups. Many movement disorders centers offer support groups, and you should ask your neurologist for information on your closest support group. In addition, support groups provide a great forum for patients to share their own experience with the disease.

You should obtain a consultation with a social worker with experience in neurological conditions. Many movement disorder centers have social worker on staff to help with long term care and other services.

If dystonia develops in childhood, particularly if it starts in the legs, it may frequently spread to other parts of the body, and may become generalized.  When dystonia develops in adulthood, it is usually confined to one body part (focal dystonia). If it spreads, which is very unlikely, it will usually affect only one other area, which is commonly the nearest muscle group.

 

The progress of dystonia is however unpredictable. The severity of symptoms may fluctuate, even from day to day. Typically, a focal dystonia will progress very gradually over a several year period, and then no longer progress. Rarely, dystonia may sometimes improve or disappear altogether for no apparent reason.

The best way to start your own support groups is to send out flyers and mailings locally as well as work with Foundations who specialize in advocacy. There are some places that can help you post about your support group such as a physician’s office or hospital in your area, online web forums and on social media like Facebook and Twitter. To find a space that is free and available to host your support group you can contact a local hospital that will have space and not charge for the time, usually during the week. In addition, libraries and schools will also have a room that is available to host a support group without charge.

Patients with dystonia may not always respond to one type of treatment, so multiple therapeutic procedures may be combined for the most effective care. Physical therapy, while not curative, is an excellent adjunct to treatment that can help with strengthening and help prevent severe muscle contractions, as well as help alleviate pain. Occupational therapy can be useful in finding better ways to do every day tasks without pain. Speech therapy can help to increase voice volume and improve swallowing difficulties. Some patients report help from gentle exercise like Tai Chi, yoga, lightweight training and swimming. In addition, support groups are often an excellent source of information and provide a great forum for patients to share their own experience with the disease.

Some forms of dystonia are definitely inherited. Whether an individual will pass on dystonia to their offspring is a difficult question to answer, because there are so many different forms of dystonia. Some forms are not inherited. Presently over ten inheritable forms of dystonia have been identified. These are the result of a genetic abnormality. Your movement disorders specialist may recommend specific genetic testing for your type of dystonia. Whenever genetic testing is ordered, genetic counseling is recommended. Most movement disorder centers will be able to refer you to a genetic counselor to discuss the specific test.

Treatments - Dystonia : Non invasive back to top

Segmental, multifocal and generalized dystonia are usually treated with oral medications. These include anticholinergic drugs (trihexyphenidyl or Artane®, benztropine or Cogentin®) and muscle relaxants or antispastic or antispasmodic agents (diazepam or Valium®, clonazepam or Klonopin®, baclofen or Lioresal®). In addition, specific forms of dystonia can respond to particular medications. For example, dopa-responsive-dystonia is treated with levodopa (Sinemet®).

Botulinum toxin injections are the treatments of choice for most forms of focal dystonia. The toxin is produced by the bacterium that causes botulism. When a small amount of commercially prepared toxin is selectively injected in the overactive muscles, it causes a change in the muscle firing, calming the abnormal movements for up to several months at a time.

 

Patients with widespread or severe debilitating dystonia can also benefit from surgery (thalamotomy or deep brain stimulation) if they are unresponsive to other treatments. The most widely used current surgical approach is called deep brain stimulation, or DBS. In this surgery, thin electrodes are implanted into a part of the basal ganglia called the globus pallidus and are attached to a pacemaker-like device implanted in the chest wall. These electrodes deliver controlled electrical pulses that can have a marked improvement of dystonia symptoms, especially for patients with generalized primary dystonia.

As of 2010, only about 300 cases of DBS for dystonia had been described in the world medical literature, and the longest any patient has had this therapy is about 15 years. Thus, it cannot be considered a standard therapy until more procedures are done and more results are published.

Treatments - Dystonia : Surgical back to top

Brain operations to treat various forms of dystonia were first performed 40-50 years ago. The operations involved a precisely controlled lesioning (destruction) of deep structures in the brain involved in movement control. Two different deep structures, called the thalamus, and the globus pallidus, were operated upon. Lesioning was performed by freezing or coagulation. Surgical techniques were much less advanced in that era that they are today, so the result were not consistent and complications were frequent.

 

In the past 15 years there has been a resurgence of interest in surgical treatments for dystonia. This is due to several reasons, including improved precision and safety in techniques for operating in deep brain structures, and the development of deep brain stimulation (DBS), which involves placing a stimulation electrode rather than performing a lesion. DBS can alter the electrical activity of abnormal brain tissue in a way that improves movement, but it is reversible if there is an unwanted side effect, and it can be adjusted (or programmed) to optimize the degree of benefit. It is hence safer than lesioning. Since 1995, several publications in neurology and neurosurgery journals have shown that deep brain stimulation for several different types of dystonia can be effective.

Deep brain stimulation is preferred over lesioning surgeries because it is reversible and adjustable, and does not permanently destroy a part of the brain. It is hence safer than lesioning. The most accepted brain target for deep brain stimulation in generalized dystonia is the globus pallidus. This is a peanut-size structure deep in the brain whose electrical activity is abnormal in dystonia. For dystonia affecting only of mainly the head and neck, the target is less clear. The subthalamic nucleus has been proposed as alternative target for those patients, and studies on that target are currently ongoing.

Patients should consider deep brain stimulation if they meet the following criteria:

  • - Diagnosis of primary dystonia, diagnosed by a movement disorder specialist, and after secondary causes of dystonia have been ruled out.
  • - The dystonia is severe enough to adversely affect quality of life by interfering significantly with normal activities or causing social isolation.
  • - Adequate medication trials have been unsuccessful including carbidopa/levodopa (Sinemet) and anticholinergic medications such as trihexyphenidyl (Artane) or benztropin (Cogentin). Baclofen and muscle relaxants such as clonazepam also tried prior to consideration for surgery.
  • - Dystonia affects too large a body area to be treated effectively with botulinum toxin injections (Botox), or prior attempts at injections with botulinum toxin have been unsuccessful.
  • - The patient and family understand the nature and complexity of deep brain stimulation (DBS) therapy including that the treatment is too novel to guarantee successful treatment in any individual case.

DBS for dystonia has received a special category of approval by the Food and Drug Administration (FDA) called a "Humanitarian Device Exemption" (HDE). As a result, many insurance companies now cover the procedure. Most insurance companies will eventually agree to cover but appeal processes may be necessary. Insurance approval or denial will be determined prior to the procedure.

There are several available surgical methods. In the most common method, implantation of the brain electrode is performed with the patient awake for part of the procedure, using only local anesthetic and occasional sedation. The basic surgical method is called stereotaxis (stereotactical or functional neurosurgery), a method used for approaching deep brain targets through a small skull opening. For stereotactic neurosurgery, a rigid frame is attached to the patient's head just before surgery, after the skin is anesthetized with local anesthetic.

A brain imaging study (MRI or CT) is obtained with a frame in place. The images of the brain and frame are used to calculate the position of the desired brain target and guide instruments to that target with minimal trauma to the brain. After the frame placement, MRI/CT is obtained, and calculation of appropriate coordinates, the patient is taken to the operating room. At that point, an intravenous sedative is given and the stereotactic frame is fixed to the operating table. A patch of hair on top of the head is shaved (usually not the entire head), and the scalp is washed. After giving local anesthetics to the scalp, an incision is made on the top of the head behind the hairline and a small opening (about the size of a nickel) is made in the skull. At this point, all intravenous sedatives and turned off so that the patient becomes fully awake.

To maximize the precision of surgery, many centers employ a "mapping" procedure in which fine recording microelectrodes are used to record brain cell activity in the region of the intended target to confirm correct placement and adjust location if necessary. The brain mapping does not cause pain or sensation for the patients, but the patient must be calm and cooperative during the recording. The neuronal electrical activity are played on an audio monitor to that the entire surgical team can hear the signals and assess their pattern. The mapping takes from 30 minutes to 2 hours for each side of the brain depending on the individual patient. In addition, the neurological status, including vision, speech and strength is monitored frequently by the surgeon or the neurologist present.

When the correct target site is confirmed, the permanent DBS electrode is inserted and tested for about 20 minutes. The testing does not focus on relief of dystonia (as this can take up to several months), but rather on presence of unwanted side effects. For this testing, the neurosurgeon will deliberately turn the device up to a higher intensity that used in clinical practice, in order to produce stimulation-induced side effects (tingling in arms or legs, a pulling sensation in face, tongue or arms, slurred speech or flashing lights). These sensations may be perceived as strange but are not painful.

Once the permanent DBS electrode is inserted and tested, intravenous sedation is resumed to make the patient asleep. Then the electrode is anchored securely to the skull with a plastic cap, and the scalp is closed with sutures. The stereotactic frame is removed and then the patient is placed under general anesthesia to be completely asleep for the placement of the pulse generator (battery) in the chest and for tunneling of the connector wire between the brain electrode and the pulse generator unit. This part takes approximately 45 minutes. Most patients with dystonia affecting both sides of the body, or neck and face, will require usually both sides of the brain to be implanted.

 

The most serious potential risk of the surgical procedure is bleeding within the brain, producing a stroke. The risk varies from patient to patient, but it ranges from 1-3%. If a stroke or bleeding occurs, it is usually within a few hours of surgery. Another potential risk is infection, which occurs in ~5% of patients. If an infection occurs, it is usually not life threatening and easy identifiable, but may require immediate removal of the entire DBS system.

DBS is NOT a cure for dystonia. If the stimulator is turned off or malfunctioning, dystonic symptoms will return. DBS can decrease the abnormal movements and postures in dystonia but generally does not entirely eliminate them. The degree of benefit varies depending on the individual patient, the type of dystonia, and appears to vary also with disease duration. Adolescents and young adults with inherited forms of dystonia (DYT1) appear to obtain most benefit. For those patients with secondary dystonia (from a stroke, or cerebral palsy for example), the benefit is generally limited. Patients with fixed skeletal deformities secondary to dystonia may also get less benefit.

Complete shaving of the head is not generally needed for surgery. A patch from the top of the head to behind one ear is usually shaved immediately prior to surgery. Most patients get a haircut two weeks after surgery to even the hair. Once hair grows back, incisions are not seen. Puffiness around the eyes for a few days after surgery is common, although it goes away quickly. The entire device is implanted internally, so there are no visible wires. In a thin individual, the connecting wire may be visible as a bulge in the neck when the head is turned the opposite way. The incision for the pulse generator (battery) will be visible with the shirt off, or in a swimsuit. In thin patients, the pulse generator forms a bulge under the skin below the collarbone that may be apparent if the area is uncovered.

All patients being considered for surgery must have had an MRI of brain at some point since the onset of their dystonia. Many centers require videotaped examinations and rating scales prior to surgery, as well as formal neuropsychological testing. MRI of the cervical spine is usually also requested for those patients with cervical dystonia.

Patients taking aspirin, ibuprofen, naproxen or vitamin E must stop these medications at least 10 days prior to surgery. Specific recommendations will be given to those patients taking blood-thinning medications such as Coumadin or Pradaxa. The evening before surgery, patients should wash their head, neck and chest with a chlorhexidine containing soap. The morning of surgery, the patient will not take his/her dystonia medications, but should take other medications for other conditions, such as high blood pressure. Patients should inform the surgeon if they develop a cold or other type of infection prior to surgery.

Patients normally leave the hospital two days after surgery. Most patients are asked return to the clinic one week later for suture removal and check of the incisions by a trained nurse, and approximately 4 weeks later to see the surgeon and neurologist in the Movement Disorders Surgery Clinic. The initial programming is done at the movement disorders clinic one to four weeks after surgery, depending on the specific center. Some patients may have temporary disorientation for a few days after surgery due to temporary brain swelling, and if this occurs programming is deferred until the mental state completely returns to baseline. Subsequent programming needs after the initial stimulator activation depend on the specific center. For patients who live at a distance from the implanting center, further programming is performed by local neurologist. In the first month following DBS implantation, some patients may develop infection of the device or of the skin over the device. This would present as drainage, increasing redness, increasing swelling, or increasing pain starting a few days to a few weeks post-surgery. It is very important to let the surgeon or neurologist know IMMEDIATELY if such signs are noted, since early wound care may be effective at salvaging the device. If such symptoms are ignored for even a few days, however, the patient will usually have to have all of the hardware removed. Patients will typically require replacement of the pulse generator after 2-3 years, depending on the exact settings of the device. This is an outpatient procedure that takes about 45 minutes. Since 2009, a rechargeable pulse generator is available, which will last much longer than the existing pulse generators.

The initial programming is usually performed by a neurologist or a DBS nurse from the implanting center, one to four weeks after surgery. Who performs further programming will depend on patient preference and location. Many patients who live far from the implanting center will be programmed by their local neurologist. Many neurologists and movement disorder specialist may not be however comfortable programming DBS devices for dystonia.

For reasons that are not fully understood, it often takes several months for the full benefit of any particular programming setting to reach its maximum level in addressing dystonic symptoms.

Most patients with generalized dystonia have onset of disease in childhood and may become severe by their teen years. These patients may be excellent candidates for surgery. For children under age 16, the surgery is usually performed under general anesthesia with no awake testing.

Causes - Dystonia back to top

As the cause of primary dystonia is unknown in many cases, it is not preventable. Tardive dystonia may be prevented by avoiding dopamine blocking medications if possible.

Dystonia may be an inherited condition caused by genetic mutations. It can also result from exposure to certain drugs, birth injuries, strokes, or as a symptom of other neurological disorders. For many patients, however, the cause remains unknown. There are two main categories of causes of dystonia: primary and secondary (or non-primary).

 

Primary Dystonia

Primary dystonia is a condition in which dystonia is the only clinical feature. There is no evidence of cell death or a known cause. It is also known as idiopathic torsion dystonia. The primary dystonias are often inherited from a parent or an apparent cause is not found. Researchers over the past twenty years have identified mutations in two genes (DYT1 and DYT6) as responsible for many cases of primary dystonia. Most genetic forms of dystonia start with symptoms in childhood or adolescence. Commercial tests are available to determine if these genes are affected in individuals.

 

Secondary Dystonia

In non-primary or secondary dystonia, an acquired or exogenous cause is identified. This can be a prior stroke, a birth injury or exposure to certain drugs. Secondary dystonia may also represent one symptom of other neurological disorders, such as Parkinson’s disease.

 

Some genetic causes include:

  • - Myoclonus Dystonia
  • - Dopa-responsive Dystonia
  • - Rapid-onset Dystonia Parkinsonism
  • - Wilson’s Disease
  • - Huntington’s Disease
  • - Spinocerebellar Ataxias
  • - Methymalonic Aciduria
  • - Parkinson’s disease caused by Parkin mutations

 

Acquired causes include:

  • - Exposure to drugs such as certain antipsychotic and anti-nausea medications (also called tardive dystonia)
  • - Multiple sclerosis
  • - Past history of stroke, birth injury, infections, or trauma

Dystonia may be an inherited condition caused by genetic mutations. Researchers over the past twenty years have identified mutations in two genes (DYT1 and DYT6) as responsible for many cases of primary dystonia. Most genetic forms of dystonia start with symptoms in childhood or adolescence. Commercial tests are available to determine if these genes are affected in individuals.

Parkinson's Disease General Questions back to top

In some families, Parkinson's disease appears to run in families and be clearly inherited. Most often these are ‘early-onset’ forms of PD cases where the disease begins earlier in life than usual, although there are also families with late-onset more classic Parkinson's disease as well. Heritable forms of PD account, however, for less than 10% of all cases of PD. Genetics however likely plays an important role in all forms of Parkinson's disease. These genetic alternations typically merely increase risk but they do not inevitably cause the onset of the disease. If you have a first degree relative with the disease, it does not mean that you will inevitably get the disease, too, but you may be at slightly higher risk that someone who did not have a relative with Parkinson's disease. Conversely if you have the disease, it does not mean that any of your children or grandchildren will get the disease. It merely indicates their risk for getting the disease is slightly higher than families without PD. For those patients with multiple affected individuals and a clear inheritance pattern, there is available commercial testing for the identified genetic alterations.

Parkinson's disease may appear at any age, but it is most common in people over age 50. Approximately 10% of patients will have onset below age 40, and cases below age 30 are rare.

Parkinson's disease is not fatal per se, but it can reduce life expectancy. The disease tends to progress more quickly in older patients, and may lead to severe incapacity within 10 - 20 years. Older patients also tend to have more cognitive symptoms and decline in function than younger people living with PD. Treatment advances are increasingly effective in alleviating symptoms and have had an impact in increasing life expectancy.

Dystonia and parkinsonism are movement disorders that are closely related. First, both conditions can occur together in certain diseases. People living with PD may experience dystonia as an early symptom or as a motor complication of treatment. Dopa-Responsive Dystonia and Rapid-Onset-Dystonia-Parkinsonism are hereditary forms of dystonia in which parkinsonism is often also present. Other neurodegenerative disorders, such as Wilson’s disease, may have both dystonia and parkinsonism, in conjunction to other clinical features.

 

Second, dystonia and parkinsonism share common treatments. Anticholinergic medications and levodopa may ameliorate both conditions, and DBS is a surgical alternative for both, although the final brain target may vary. Lastly, parkinsonism and dystonia are thought to result from dysfunction of the basal ganglia and their output, although the ultimate cause of the disorders is not known. Further research is necessary to determine the various underlying genetic, environmental, or other underlying mechanisms that may play a role in causing these two related disorders.

In the past twenty years, there has been and continues to be exciting research in many different areas of Parkinson's disease.

 

These are some examples: 

 

Research on the cause of Parkinson's Disease:  Genetics and environment play a major role in the cause of Parkinson's Disease, even though age is the greatest risk factor. Knowing that PD is a heterogeneous disease, we realize that everyone has slightly different symptoms and that the underlying pathology varies for each group or person. In the past 15 years, more than 13 different genetic locations (loci) for PD have been identified, and we are likely just at the beginning for discovery of genetic causes. Learning about PD genetics helps understand the cause of PD and may lead to development of new treatments. Most genetic alternations deal with blocking the development of the abnormal proteins, their misfolding or their aggregation.

 

Research on non-motor and other symptoms of PD:  Over the last few years we have become aware of the non-motor symptoms in PD. These are anxiety, mood changes, slow thinking, and other cognitive symptoms, pain, alterations in sweating and temperature control, constipation, urinary and erectile dysfunction, and even visual symptoms like blurriness. They can occur anytime, but sometimes are associated with the "off" period. It is important to be aware of there non-motor symptoms, as they are very common and disturbing clinically and must be recognized so they can be treated. Several different medications are being studied for the management of non-motor symptoms.

 

Research in surgical treatment for PD:  There have been over 80,000 patients in the world that have had DBS for PD since it became available approximately 20 years ago. In patients with PD, with a robust response to levodopa, without marked cognitive impairment or uncontrolled neuropsychiatic symptoms this non-lesioning (nondestructive) surgery can be very beneficial clinically. New targets are in the future as are multiple targets.

 

Research of pathology of PD:  Studies on postmortem pathology on patients with PD and have found several subgroups of pathology that have different locations and seem to have a progression of advancement that seems to imply that the disease progresses similarly for many patients and may start in the olfactory nucleus (brain center for smell) and vagus nucleus (area of the brain involved in control of automatic functions). The pathological changes may likely advance to other brain areas. These findings if confirmed give us a possible pattern of progression of the disease and may offer a chance to make a diagnosis very early. This will be very important if we find drugs that allow for disease modification or neuroprotection.

Ask your neurologist or movement disorders specialist about participation in clinical trials. Specifical clinical trials vary by region and center. If you are receiving treatment at a specialized movement disorders center, there may be already ongoing trials at your center in which you can participate. The website www.clinicaltrials.gov also has updated information in all current clinical trials performed in the United States.

 

You can also visit our Clinical Trials page for a list of websites where you can find information on different clinical trials happening in your area.

Remarkable progress has occurred in the study of PD in the last few decades. To date, however, there is no known cure for the disease. For most people living with PD, symptoms can be controlled for many years, and life expectancy is not significantly reduced.

There are many ways to make a difference in the Parkinson’s disease community from raising awareness in your local community to raising needed funds for medical research. Visit our How You Can Help page to learn about how you can contribute to the Parkinson’s disease community.

Clinical trials for Parkinson’s disease are essential to collect data in order to further our scope in research to find better treatments a cure for PD. Thankfully there are a variety of clinical trials that are open to individuals who are interested in participating. First, ask your neurologist or movement disorders specialist about participation in clinical trials. If you are receiving treatment at a specialized movement disorders center, there may be already ongoing trials in which you can participate.  The website www.clinicaltrials.gov also has updated information in all current clinical trials performed in the United States.

 

You can also visit our Clinical Trials page for a list of websites where you can find information on different clinical trials happening in your area.

The Bachmann-Strauss Foundation is one of the leading Foundations to fund cutting-edge research for dystonia and Parkinson’s disease by leveraging new ideas and advances in the fields. In addition, it is one of the only Foundations that focus it’s efforts researching the overlap between dystonia and Parkinson’s disease. This Foundation has contributed to many breakthroughs for these disorders from genetics to drug discovery.

 

Visit our Breakthroughs and Accomplishments webpage to learn all about our impact in finding a cure and better treatments.

Currently, there is no specific test to definitely diagnose PD. The diagnosis is made by a neurologist following a thorough examination. An MRI of the brain may be ordered to exclude other brain diseases. However, there are no clear changes on the MRI that can conclusively tell that a person has PD. While not everyone will develop all four cardinal symptoms (slowness of movement or bradykinesia, tremor, rigidity or stiffness and loss of balance or postural instability), at least two are required for diagnosis, in the absence of an alternative cause (for example, exposure to certain medications or history of strokes). When symptoms first appear and signs are subtle, a precise diagnosis may be difficult.

Many patients with Parkinson's disease will have tremor as a manifestation of their disease. The tremor or involuntary shaking in PD can be seen in the hands, arms, legs, jaw or face. Typically, it starts on one side of the body, and it is visible when the affected body part is at rest or not in motion. Tremors that are present only with movement of the limb are usually due to other conditions. While it is present in many patients, approximately 25% of people living with PD never develop a tremor. Hence, not everything that shakes is Parkinson's disease. A neurological evaluation would be able to distinguish between different types of tremor.

If you think you may have Parkinson's disease and it has not yet been diagnosed, you should see your doctor and ask to be referred to a neurologist specialized in movement disorders. During your consultation with the appropriate specialist, you will undergo an examination and you will also be asked many questions about your symptoms. Proper diagnosis will be contingent on results from a thorough patient history and complete physical and neurological examinations. Brain imaging (such as MRI) may be necessary to reach a diagnosis.

Having Parkinson's disease is not a contraindication for driving. However, impairment of motor and cognitive function as a consequence of the disease may interfere with safe driving and giving up this priviledge may be advised. This is a highly individualized decision that should be made by the patient, his or her family and their neurologist based on the patients individual symptoms and disability. Occasionally, formal driving evaluations can be requested at many Department of Motor Vehicles (DMV) accross the country. Some physical and occupational therapy centers offer driving assessment programs as well.

Parkinson's disease is usually accompanied by a great deal of fatigue and tiredness and rest periods and pacing your activites are generally recommended. Many patients will also report a beneficial effect of naps and slep on their motor symptoms (also called sleep benefit). Whether it is related to a medication effect, or to less dopamine "used" while sleeping or to some other factors is not known.

Exercise and physical therapy are key parts of Parkinson’s disease therapy. Exercise will not only improve mobility, flexibility, range of motion and balance, but animal models of Parkinson’s disease show that exercise may even delay the progression of disease. How much and what type of exercise will depend greatly on the individual patient.

Depression and anxiety are recognized common symptoms of Parkinson’s disease. These symptoms are likely due not only to the burden of having a chronic serious illness, but also directly related to the neurochemical changes in the brain. Severe untreated depression and anxiety can interfere with successful treatment of motor symptoms and must be address to improve quality of life. Pharmacological approaches and psychotherapy are valid proven options to improve these symptoms in Parkinson’s disease.

Parkinson’s disease affects more than the person living with it. It affects the entire family and community. As a caretaker, your responsibilities may include helping a loved one with daily activities, managing medications, transportation to doctors appointments and making financial decisions. It is a dynamic relationship. As a person with Parkinson’s disease adjusts to physical changes and challenges, including changes in personal independence, a caretaker (or carepartner) must learn to adapt as well, possibly taking more duties that the loved one had previously handled well. However, everybody experiences Parkinson’s disease in a different way, and as it progresses at very different rates in different people, it is impossible to predict its course in an individual patient.

As stated in the question above, Parkinson’s disease affects more than person living with it and very often one person –a spouse, parent or child- will take the role of primary care taker or carepartner. The degree and span of responsibilities will depend on the individual case and the stage of the disease, making it a dynamic changing relationship. It may involve managing medications, taking your loved one to doctors appointments, making financial decisions, or coping with a loved one with dementia including difficulties with memory and slowed thinking or communication. It is important to have open communication with your loved one living with Parkinson’s disease, to address life planning decisions early, to not let the disease define your life, to take care of yourself, and to educate yourself and the community in Parkinson’s disease.

It is important to find the right doctor for the proper support in dealing with Parkinson’s disease. It is important to find a neurologist who specializes in movement disorders, who is up-to-date on research and approaches to therapy and it is always good to get a second opinion, especially when you are going through the diagnosis and treatment process. Visit our Finding Help page to search for a specialist near you.

Parkinson's disease may appear at any age, but it is most common in people over age 50. Approximately 10% of patients will have onset below age 40, and cases below age 30 are rare.

Parkinson's disease is not fatal per se, but it can reduce life expectancy. The disease tends to progress more quickly in older patients, and may lead to severe incapacity within 10 - 20 years. Older patients also tend to have more cognitive symptoms and decline in function than younger people living with PD. Treatment advances are increasingly effective in alleviating symptoms and have had an impact in increasing life expectancy.

At least a million people are affected with Parkinson's disease in the United States alone. It is thought that approximately 2% of those above age 65 suffer from PD.

Symptoms – Parkinson’s Disease back to top

Currently, there is no specific test to definitely diagnose PD. The diagnosis is made by a neurologist following a thorough examination. An MRI of the brain may be ordered to exclude other brain diseases. However, there are no clear changes on the MRI that can conclusively tell that a person has PD. While not everyone will develop all four cardinal symptoms (slowness of movement or bradykinesia, tremor, rigidity or stiffness and loss of balance or postural instability), at least two are required for diagnosis, in the absence of an alternative cause (for example, exposure to certain medications or history of strokes). When symptoms first appear and signs are subtle, a precise diagnosis may be difficult.

Many patients with Parkinson's disease will have tremor as a manifestation of their disease. The tremor or involuntary shaking in PD can be seen in the hands, arms, legs, jaw or face. Typically, it starts on one side of the body, and it is visible when the affected body part is at rest or not in motion. Tremors that are present only with movement of the limb are usually due to other conditions. While it is present in many patients, approximately 25% of people living with PD never develop a tremor. Hence, not everything that shakes is Parkinson's disease. A neurological evaluation would be able to distinguish between different types of tremor.

If you think you may have Parkinson's disease and it has not yet been diagnosed, you should see your doctor and ask to be referred to a neurologist specialized in movement disorders. During your consultation with the appropriate specialist, you will undergo an examination and you will also be asked many questions about your symptoms. Proper diagnosis will be contingent on results from a thorough patient history and complete physical and neurological examinations. Brain imaging (such as MRI) may be necessary to reach a diagnosis.

After Diagnosis - Parkinson’s Disease back to top

Having Parkinson's disease is not a contraindication for driving. However, impairment of motor and cognitive function as a consequence of the disease may interfere with safe driving and giving up this priviledge may be advised. This is a highly individualized decision that should be made by the patient, his or her family and their neurologist based on the patients individual symptoms and disability. Occasionally, formal driving evaluations can be requested at many Department of Motor Vehicles (DMV) accross the country. Some physical and occupational therapy centers offer driving assessment programs as well.

Parkinson's disease is usually accompanied by a great deal of fatigue and tiredness and rest periods and pacing your activites are generally recommended. Many patients will also report a beneficial effect of naps and slep on their motor symptoms (also called sleep benefit). Whether it is related to a medication effect, or to less dopamine "used" while sleeping or to some other factors is not known.

Exercise and physical therapy are key parts of Parkinson’s disease therapy. Exercise will not only improve mobility, flexibility, range of motion and balance, but animal models of Parkinson’s disease show that exercise may even delay the progression of disease. How much and what type of exercise will depend greatly on the individual patient.

Depression and anxiety are recognized common symptoms of Parkinson’s disease. These symptoms are likely due not only to the burden of having a chronic serious illness, but also directly related to the neurochemical changes in the brain. Severe untreated depression and anxiety can interfere with successful treatment of motor symptoms and must be address to improve quality of life. Pharmacological approaches and psychotherapy are valid proven options to improve these symptoms in Parkinson’s disease.

Parkinson’s disease affects more than the person living with it. It affects the entire family and community. As a caretaker, your responsibilities may include helping a loved one with daily activities, managing medications, transportation to doctors appointments and making financial decisions. It is a dynamic relationship. As a person with Parkinson’s disease adjusts to physical changes and challenges, including changes in personal independence, a caretaker (or carepartner) must learn to adapt as well, possibly taking more duties that the loved one had previously handled well. However, everybody experiences Parkinson’s disease in a different way, and as it progresses at very different rates in different people, it is impossible to predict its course in an individual patient.

As stated in the question above, Parkinson’s disease affects more than person living with it and very often one person –a spouse, parent or child- will take the role of primary care taker or carepartner. The degree and span of responsibilities will depend on the individual case and the stage of the disease, making it a dynamic changing relationship. It may involve managing medications, taking your loved one to doctors appointments, making financial decisions, or coping with a loved one with dementia including difficulties with memory and slowed thinking or communication. It is important to have open communication with your loved one living with Parkinson’s disease, to address life planning decisions early, to not let the disease define your life, to take care of yourself, and to educate yourself and the community in Parkinson’s disease.

It is important to find the right doctor for the proper support in dealing with Parkinson’s disease. It is important to find a neurologist who specializes in movement disorders, who is up-to-date on research and approaches to therapy and it is always good to get a second opinion, especially when you are going through the diagnosis and treatment process. Visit our Finding Help page to search for a specialist near you.

Treatments - Parkinson’s Disease : Non Invasive back to top

The treatment of PD can be challenging, but unlike other neurodegenerative diseases, there is effective symptomatic treatment. While medical and surgical therapy can provide long-lasting benefits, the goal of therapeutics in PD is neuroprotection (the development of drugs that can halt or slow down the progression). To date, no medication has demonstrated definite neuroprotection. However, monoamino oxidase inhibitors (MAOB-I) like rasagiline (Azilect®) may have disease modifying effects.

There are also several other agents that have shown sufficient promise to warrant larger trials (CoQ10, creatine). These are the most common medications used for the symptomatic treatment of symptoms:

  • Levodopa: also called L-dopa, is currently the single most effective drug for the treatment of PD. It is converted into dopamine in the brain, the neurotransmitter produced by cells in the substantia nigra. Levodopa helps control the main motor symptoms of PD. It is generally taken with another drug, carbidopa, to avoid its most common side effect, nausea. In the United States, this combination is commercialized under the name carbidopa-levodopa, Sinemet®, Sinemet® CR, or StaLevo®, a single pill containing carbidopa, levodopa and entacapone. There is controversy about how early in the disease levodopa therapy should be initiated.
  • Dopamine agonists: are drugs that stimulate dopamine receptors directly in the brain, mimicking the effect of levodopa. These medications are used to treat the motor symptoms of PD, particularly early in the disease and in younger patients. They are not as potent as levodopa, but they delay the onset of motor complications associated with chronic levodopa use. Agonists currently available in the United States are pramipexole (Mirapex®), ropinirole (Requip®), and apomorphine (Apokyn®). The rotigotine patch (Neupro®) was withdrawn from the United States market in April 2008, but it is still available in other countries.
  • COMT inhibitors: prevent the breakdown of dopamine in the brain. When taken with levodopa, the effect of a single dose is prolonged. The two COMT inhibitors available in United States are entacapone (Comtan®) and tolcapone (Tasmar®). A combination of levodopa, carbidopa and entacapone in a single tablet is available as StaLevo®.
  • Monoaminooxidase inhibitors (MAOB-I): Selegiline (Eldepryl®, Zelapar®) and rasagiline (Azilect®), the two MAOB-I commercially available for the treatment of PD, also inhibit the breakdown of dopamine in the brain, prolonging its effect. Recent trials suggest that rasagiline may have disease-modifying effects (neuroprotection). An older study on selegiline indicated that the medication also slowed down the disease. The results were however inconclusive, as the benefit could have also been explained by its symptomatic effects.
  • Anticholinergic medications: are drugs that block the effect of the chemical acetylcholine in the brain. Acetylcholine opposes the effect of dopamine. They are useful against tremor and stiffness. Their use is limited by their high rate of side effects. The most commonly used anticholinergic medications are trihexyphenidyl (Artane®) and benztropine (Cogentin®). Ethopropazine (Parsitan®) is available in Canada.
  • Amantadine: also known as Symmetrel® can relieve the motor symptoms of PD, particularly tremor. It has a more significant effect in reducing the abnormal movements (dyskinesias) caused by chronic dopaminergic treatment Other agents: medications to treat depression and anxiety, constipation, urinary and erectile dysfunction, and sleep disturbances may be necessary to optimize quality of life for people living with PD.
  • Other agents: medications to treat depression and anxiety, constipation, urinary and erectile dysfunction, and sleep disturbances may be necessary to optimize quality of life for people living with PD.

For most people living with PD, maintaining a healthy lifestyle, proper diet and regular daily exercise are recommended for an improved quality of life. There is increasing evidence that aerobic exercise may be neuroprotective in PD.

Treatments - Parkinson’s Disease : Surgical back to top

For patients with mild early Parkinson's disease, levodopa (sinemet) and other antiparkinsonian medications are usually effective for maintaining a good quality of life. As the disorder progresses, however, medications can produce disabling side effects. Many patients on long-term levodopa may develop troublesome dyskinesias, excessive movements that often cause the limbs and body to writhe or jump. In addition, their dose of levodopa no longer lasts as long as it once did. This may lead to "motor fluctuations", a condition in which the ability to move changes unpredictably between a mobile ("on"), state when medications seem to work, and an immobile ("off") state in which little effect of medication is apparent and normal movement is very difficult. When patients no longer have an acceptable quality of life due to these shortcomings of medical therapy, surgical treatment should be considered.

There are several different types of surgery for Parkinson's disease. The first surgical procedures developed were destructive, or brain lesioning, procedures. Examples of lesioning surgery include thalamotomy and pallidotomy. Lesioning surgery involves the precisely controlled destruction, using a heat probe, of a small region of brain tissue that is abnormally too active. It produces a permanent effect on the brain. In general, it is not safe to perform lesioning on both sides of the brain due to potential side effects.
In most centers, lesioning has been largely replaced by deep brain stimulation (DBS). DBS surgery involves placing a thin metal electrode (about the diameter of an spaghetti) into one of several possible brain targets and attaching it to a computerized pulse generator or battery, which is implanted under the skin in the chest (much like a heart pacemaker). All parts of the stimulator system are internal; there are no wires coming out through the skin. To achieve maximal relief of symptoms, the electrical stimulation can be adjusted during a routine office visit by a physician or nurse using a programming computer held next to the skin over the pulse generator. Unlike lesioning, DBS does not destroy brain tissue. Instead, it reversibly alters the abnormal function of the brain tissue in the region of the stimulating electrode. Although deep brain stimulation is a major new advance, it is a relatively complicated therapy that may demand considerable time and patience before its effects are optimized.
 Restorative therapies, such as transplantation of fetal cells or stem cells, growth factor infusion, or gene therapy, attempt to correct the basic chemical defect of Parkinson's disease by increasing the production of dopamine in the brain. These procedures are currently experimental but hopefully in the future, restorative therapies will emerge as effective and possibly curative interventions for Parkinson's disease.

There are four potential target sites in the brain that may be selected for placement of stimulating electrodes: the internal segment of the globus pallidus (GPi), the subthalamic nucleus (STN), the pedunculopontine nucleus (PPN), and a subdivision of the thalamus referred to as Vim (ventro-intermediate nucleus). These structures are small clusters of nerve cells that play critical roles in the control of movement. Thalamic (Vim) stimulation is only effective for tremor, and usually does not work for the other symptoms of Parkinson’s disease, such as stiffness or slowness. Stimulation of the GPi or STN, in contrast, may benefit not only tremor but also other parkinsonian symptoms such as rigidity (muscle stiffness), bradykinesia (slow movement), gait problems, and dyskinesias. All three of these targets are now approved by the U.S. Food and Drug Administration (FDA), which oversees medical devices. The PPN is a new, investigational target that may be appropriate for patients with gait freezing, but there are currently few clinical studies of this. For most patients with Parkinson's disease, DBS of the GPi or STN is the most appropriate choice.

The theoretical basis for DBS of the GPi or STN in Parkinson’s disease was developed in the late 1980's and early 1990's. In Parkinson's disease, loss of dopamine-producing cells leads to excessive and abnormally patterned activity in both the GPi and the STN. "Pacing" of these nuclei with a constant, steady-frequency electrical pulse is thought to correct this excessive and abnormal activity. DBS does not act directly on dopamine producing cells and does not affect brain dopamine levels. Instead, it compensates for one of the major secondary effects of dopamine loss, the excessive and abnormally patterned electrical discharge in the GPi or the STN. The exact mechanism by which the constant frequency stimulation pulse affects nearby brain cells has not however yet been determined.

There are several available surgical methods. In the most common method, implantation of the brain electrode is performed with the patient awake for part of the procedure, using only local anesthetic and occasional sedation. The basic surgical method is called stereotaxis (stereotactical or functional neurosurgery), a method used for approaching deep brain targets through a small skull opening. For stereotactic neurosurgery, a rigid frame is attached to the patient's head just before surgery, after the skin is anesthetized with local anesthetic. A brain imaging study (MRI or CT) is obtained with a frame in place. The images of the brain and frame are used to calculate the position of the desired brain target and guide instruments to that target with minimal trauma to the brain. After the frame placement, MRI/CT is obtained, and calculation of appropriate coordinates, the patient is taken to the operating room. At that point, an intravenous sedative is given and the stereotactic frame is fixed to the operating table. A patch of hair on top of the head is shaved (usually not the entire head), and the scalp is washed. After giving local anesthetics to the scalp, an incision is made on the top of the head behind the hairline and a small opening (about the size of a nickel) is made in the skull. At this point, all intravenous sedatives and turned off so that the patient becomes fully awake.

To maximize the precision of surgery, many centers employ a "mapping" procedure in which fine recording microelectrodes are used to record brain cell activity in the region of the intended target to confirm correct placement and adjust location if necessary. The brain mapping does not cause pain or sensation for the patients, but the patient must be calm and cooperative during the recording. The neuronal electrical activity is played on an audio monitor to that the entire surgical team can hear the signals and assess their pattern. The mapping takes from 30 minutes to 2 hours for each side of the brain depending on the individual patient. In addition, the neurological status, including vision, speech and strength is monitored frequently by the surgeon or the neurologist present.

When the correct target site is confirmed, the permanent DBS electrode is inserted and tested for about 20 minutes. The testing does not focus on relief of parkinsonian symptoms (as this can take several hours or days), but rather on presence of unwanted side effects, which tend to happen immediately. For this testing, the neurosurgeon will deliberately turn the device up to a higher intensity that used in clinical practice, in order to produce stimulation-induced side effects (tingling in arms or legs, a pulling sensation in face, tongue or arms, slurred speech or flashing lights). These sensations may be perceived as strange but are not painful.

Once the permanent DBS electrode is inserted and tested, intravenous sedation is resumed to make the patient asleep. Then the electrode is anchored securely to the skull with a plastic cap, and the scalp is closed with sutures. The stereotactic frame is removed and then the patient is placed under general anesthesia to be completely asleep for the placement of the pulse generator (battery) in the chest and for tunneling of the connector wire between the brain electrode and the pulse generator unit. This part takes approximately 45 minutes.

Certain surgical centers, such as at the University of California San Francisco (UCSF), have been investigating an alternative method for DBS electrode placement, in which the surgery is performed entirely within a high resolution MRI scanner. This method is being used under an investigational protocol, and so far, accuracy and side effect profile are very similar that to the standard technique. One advantage is that patients may be under general anesthesia for the entire implantation procedure, since no physiological testing is required.

Most patients with Parkinson’s disease affecting both sides of the body will require usually both sides of the brain to be implanted. Whether to implant both sides simultaneously or staged at two different time points depends on the specific patient and surgical center.

Complete shaving of the head is not necessary for surgery. However, patches of hair on top of the head and behind the ear are shaved immediately before surgery when the patient is sedated. Many patients elect to get a short haircut after surgery (must be at least 2 weeks afterwards) so that the hair grows in evenly.

There are generally 3 incisions made on each side for DBS surgery: a 5 cm (2 inch) incision on top of the head, a 2.5 cm (1 inch) incision behind the ear, and a 6 cm (2.5 inches) incision in the chest just under the clavicle. For patients with receding hairlines, a slight scar from an incision will be visible on top of the head, but is not especially prominent. The cap used to anchor the DBS electrode (under the scalp) forms a slight bump, which again may be visible in the case of a receding hairline.

There is often puffiness around the eyes for a few days after surgery, but this goes away rapidly. The local anesthetic given when the frame is placed can cause swelling in the face, around the eyes, usually at its peak of one to three days after surgery.

All parts of the device are internal (under the skin), so there are no wires sticking out. In a thin person, the connecting wire running down the neck may be visible as a slight bulge when the head is turned all the way to the opposite side. The incision for the pulse generator in the chest is closed with particular attention to minimize scar formation; this incision would be visible with the shirt off, or in a swimsuit, or in a low-cut evening gown. In thin persons, the pulse generator itself forms a bulge under the skin in the pectoral area that may be apparent if the area is uncovered, but is not visible through clothing.

Using the standard, microelectrode guided technique for DBS surgery, brain mapping is performed using microelectrodes. The brain mapping procedure is very difficult to perform if the patient is under a general anesthetic or strong sedative. In addition, the procedure is safer if the patient's neurological function (speech and voluntary movement) can be checked periodically during the procedure, which is only possible in an awake patient.

DBS on one side of the brain usually affects only symptoms on the opposite side of the body. Most patients have symptoms on both sides of the body and thus require both sides of the brain to be implanted for maximal benefit. Some surgical centers only perform "staged” surgeries, that is each side done in a separate surgery separated by several months. As this surgery has become more rapid and routine, many centers now offer "simultaneous bilateral" procedures, or implantation of both leads in a single surgery, to many patients. The brain side opposite the most affected body side is implanted first. Then, if the patient and anesthesiologist agree to proceed, the second side is then implanted. For elderly patients, or patients concerned about a longer operation, it may be best to stage the procedures several months apart.

The major benefit of DBS surgery for Parkinson’s disease is that it makes movement in the off-medication state more like the movement in the on-medication state. In addition, it can reduce levodopa-induced dyskinesias, either by a direct suppressive effect or indirectly by allowing some reduction in anti-parkinsonian medication. Thus, the procedure is most beneficial for Parkinson's patients who have prominent motor fluctuations, that is that they cycle between states of immobility ("off" state) and states of better mobility ("on" state). DBS can smooth out these fluctuations so that there is better function during more of the day. Any symptom that can improve with levodopa (slowness, stiffness, tremor, gait disorder) can also improve with DBS. Symptoms that do not respond at all to levodopa usually do not improve significantly with DBS. Following DBS, there may be a reduction, but not elimination, of anti-Parkinsonian medications. At present, we believe that DBS only suppresses symptoms and does not alter the underlying progression of Parkinson's disease.

The most serious potential risk of the surgical procedures is bleeding in the brain, producing a stroke. This risk varies from patient to patient, depending on the overall medical condition, but the average risk is about 2-3%. If stroke occurs, it usually occurs during, or within a few hours of, surgery. The effects of stroke can range from mild weakness that recovers in a few weeks or months to severe, permanent weakness, intellectual impairment, or death. The second most serious risk is infection, which occurs in about 4-5% of patients. If an infection occurs, it is usually not life threatening, but it may require removal of the entire DBS system. In most cases, a new DBS system can be re-implanted when the infection is healed. Finally, hardware may break or erode through the skin with normal usage, requiring it to be replaced.

In the first few days after surgery, it is normal to have some temporary swelling of the brain tissue around the electrode. This may produce no symptoms, but it can produce mild disorientation, confusion, sleepiness, or personality changes that may last for up to 1-2 weeks.

In determining whether a patient is a good candidate for surgery, most surgical centers look for the following, apart from a diagnosis of Parkinson’s disease:

  1. Intact intellectual function and memory. Dementia (significantly impaired memory or thinking) is a major contraindication to surgery, since such patients have great difficulty tolerating the surgery, may have further loss of intellectual function due to the surgery, deal poorly with the complexity of DBS therapy, and realize little overall functional benefit.
  2. History of significant benefit from taking levodopa (Sinemet). Good mobility, with the ability to walk, in the best "on-medication" state is important for a good outcome. In general, surgery makes the "off" medication state more like the "on" state but rarely does better than the best "on" state, so a patient with poor function in best "on" (for example, unable to walk at any time) is a poor surgical candidate.
  3. Certainty of diagnosis. A number of neurological illnesses can mimic the symptoms of Parkinson's disease but do not respond significantly to levodopa. Such illnesses are often called "atypical parkinsonism" or "Parkinson's plus syndromes." These illnesses are different from classic Parkinson's disease, and they do not respond to DBS surgery. If there is a strong possibility that the patient has atypical parkinsonism rather than classic Parkinson's disease, surgery should not be performed.
  4. Lack of other untreated or inadequately treated illnesses. Serious cardiac disease, uncontrolled hypertension, or any major other chronic systemic illness increases the risk and decreases the benefit of surgery.
  5. Realistic expectations. People who expect a sudden miracle are disappointed with the results, and they may have difficulty with the complexity of the therapy.
  6. Patient age. The benefits of DBS for PD decline with advancing age, and the risks go up. We rarely offer surgery to a person over 80 and would only consider it if they are in otherwise excellent health, are cognitively intact, and have good function in the “on” state. For patients over 75, the benefits are likely to be modest.
  7. MRI of the brain should be free of severe vascular disease, extensive atrophy, or signs of atypical parkinsonism.
  8. Degree of disability. DBS is a poor procedure to rescue someone with end stage Parkinson's disease who is wheelchair bound or in a nursing home, although these are the most desperate patients. It is an excellent procedure for Parkinson's patients who are still employed but may be just at the point where disability would stop them from working.
  9. Ability to remain calm and cooperative during an awake neurosurgical procedure lasting 2-3 hours per brain side.

Deep brain stimulation surgery is usually performed at specialized surgical movement disorder centers. Most such centers operate in a multidisciplinary approach with movement disorder neurologists, neurosurgeons, neuropsychologists and DBS specialized nurses.

The results vary by location and specific center. In highly specialized centers with high patient volume, a 45-70% improvement in Parkinson’s disease rating scale scores “off” medication, as a result of DBS. This represents a major improvement in mobility. At most high volume center, the risk of stroke is 1-3%, the risk of severe stroke with death or permanent major disability is 0.5%, and the risk of device infection that requires further surgery for device removal is 4-5%.

Most centers require that patients have a brain imaging study (MRI or CT) to determine if there are problems in the brain that would pose excessive risk for surgery, unless one has been done within 1 year. Most centers also require an “on/off” evaluation. That is a formal neurological exam in the off-medication condition, following by re-assessment after a test dose of medication, by a movement disorder neurologist. For most patients, and especially those with a question of cognitive dysfunction, we request formal neuropsychological evaluation. All patients must have a blood test (mainly for blood clotting ability) and consultation with the anesthesiologists in the week prior to surgery.

For 10 days prior to surgery, patients must not take aspirin, any aspirin containing drugs, related drugs such as ibuprofen (Advil, Motrin) or naproxen (Naprosyn), or Vitamin E. These drugs can increase the risk of bleeding. The evening before surgery, patients should wash their head, neck, and chest with hibiclens (or other soap containing chlorhexidine) in the shower. The morning of surgery, the patient should not take their antiparkinsonian medications. However, the patient should take any medications they normally take for other problems, such as high blood pressure. Patients should inform the surgeon if they develop a cold, cough, or any type of infection in the days prior to the surgery. Patients should be well hydrated (drink a lot of non-alcoholic, non-caffeinated drinks) prior to surgery.

Patients normally leave the hospital two days after surgery. Patients then return a week later for suture removal and check of the incisions by a DBS nurse, and approximately 4 weeks later to see the surgeon and neurologist. The initial programming session is usually performed at the surgical center, and varies from center to center from one to four weeks after surgery. Some patients may have temporary disorientation or sleepiness for a few days after surgery due to temporary brain swelling, and if this occurs programming is deferred until the mental state completely returns to baseline. For subsequent programming needs after the initial stimulator activation, the patient may choose to return to the surgical center or be programmed by their local neurologist.

In the first month or two following DBS implantation, some patients may develop an infection of the device or of the skin over the device. This would present as drainage, increasing redness, increasing swelling, or increasing pain starting a few days to a few weeks post-surgery. It is very important to let your primary care doctor, neurologist or neurosurgeon know IMMEDIATELY if such signs are noted, since early wound care may be effective at salvaging the device. If such symptoms are ignored for even a few days, however, the patient will usually have to have all of the hardware removed.

Patients will typically require replacement of the pulse generator after 3-4 years, depending on the exact settings of the device (for non-rechargable neurostimulators). This is an outpatient procedure that takes about 45 minutes. Since 2009, a rechargeable pulse generator is available, which lasts much longer than the other pulse generators (about 9 years).

The initial programming is usually performed by a neurologist or a DBS nurse from the implanting center, one to four weeks after surgery. Who performs further programming will depend on patient preference and location. Many patients who live far from the implanting center will be programmed by their local neurologist.

For reasons that are not fully understood, the improvement in parkinsonisan symptoms my take a few hours or days to reach its maximal level following a programming change. Some symptoms may respond more quickly than others. In addition, to realize the full benefit of DBS, medication changes and multiple programming sessions may be needed. Thus it is usually a few months after surgery before the final degree of benefit is actually realized.

Following surgery, the patient is given the a patient programmer, a hand-held battery-operated unit that can be used to determine if the device is on or off, to turn it on or off, to check battery life, and to change some settings on the stimulation level. The degree of patient control over the stimulation is determined by the programming neurologist. Normally, in DBS for Parkinson's disease, the device is left on all the time.

For at least 7 days after surgery, the patient should refrain from flying in commercial aircraft. For one week after surgery, the incisions should be kept dry, so for showering in the first week incisions must be covered with an occlusive dressing. Tight clothing or tightly fitting hats should be avoided in the two weeks after surgery. After the incisions are completely healed (2-3 weeks), the patient may return to all normal activities, including exercise. Patients are advised not to drive for at least one week following surgery. For the first 2 weeks after surgery, the patient should not lift more than 10 pounds. Normal physical activities will not harm the device. Security devices (such as those in airports or stores) will not harm the device or the patient, although in rare cases they may activate the on-off switch, thus turning off a DBS system that had been on. The loss of benefit to the patient may take minutes or hours to be apparent. When traveling extensively away from home, patients should carry their patient programmer unit so that they can easily re-activate the DBS system if it is de-activated by a security device.

After DBS implantation, patients should avoid most types of MRI exams, especially body MRI, as the exam may produce heating of the brain electrode. Certain specialized surgical centers have developed a specialized, low-energy protocol for brain MRI, allowing to perform postoperative brain MRI safely. However, other forms of MRI (such as spine or chest MRI) are not recommended, because safe conditions for performing these have not been worked out.

Medicare and almost all private insurers nationwide now cover DBS for Parkinson's disease. Insurance approval is sought prior to hospital admission at all centers.

Causes - Parkinson's Disease back to top

As the ultimate cause of Parkinson's disease is unknown, it is currently not preventable.

PD is a neurodegenerative disease. It occurs when certain nerve cells, or neurons, die or become impaired. This degeneration takes place in a small area of the brain called the substantia nigra, located in the brainstem. People living with PD have usually lost 80% or more of dopamine-producing cells in this area by the time symptoms are apparent. In addition, there is also neuronal cell loss and related pathology in other brain regions, responsible for other non-motor symptoms.

The main reason why these cells die or become impaired is still a mystery. Most scientists believe that both genetic and environmental factors are contributing causes. However, how they lead to PD is still unclear.