Other Movement Disorders
At the Southeastern Center for Parkinson Disease, we specialize in the diagnosis and treatment of:
Essential Tremor
Essential Tremor, or ET, is quite common and affects up to 10 million people in the U.S. It affects for more people than does Parkinson Disease (PD). ET usually starts out in the hands and is characterized by worsening with movement. When still or relaxed, there is usually no tremor at all. As soon movement is attempted, tremor becomes noticeable and may affect common and necessary activities, such as writing, eating with a spoon, buttoning clothes. ET tends to start out slowly and may take quite a long time to become bothersome enough that the affected person seeks help. With time, the tremor may spread to other parts of the body, especially the head, mouth, or voice, but occasionally may spread to the legs or feet as well. In some patients, the tremor stays at a low level for their entire life and never becomes debilitating.
How you know if you have essential tremor? Although some cases can be quite confusing, most patients with ET have tremor in both hands that gets worse with action or trying to hold the hands still while the arms are extended. It gets better with resting the hands. Most patients will also notice a significant improvement in the tremor after a drink of alcohol.
This is quite different from the tremor associated with PD, which tends to start on one side and gets worse with resting. Another important factor can be a family history of ET (which is then called Familial Tremor, or Benign Familial Tremor). A sensation of internal shaking or tremor may also be noted, although this can also be associated with other conditions.
People with ET seek help for several reasons; when the tremor starts to interfere with everyday activities, when it interferes with eating or drinking, or when it is socially embarrassing. Many patients complain that they are no longer able to write in a legible fashion and cannot make out checks or sign their name. People with hobbies such as painting or model-making become frustrated as manipulation of small tools and objects is no longer possible. Often, they must rely on others or modify activities, such as switching to an electric razor.
When ET affects the head or mouth, it may cause embarrassment in public, which only tends to make the tremor worse. Certain head tremors can make the patient appear to be agreeing or disagreeing with everything that is discussed. For instance, one patient related that she was afraid to go to an auction because she was worried that the auctioneer would think she was bidding on all items! Vocal tremor can be embarrassing as well, or it can be debilitating and make communication difficult.
Treatment for ET is available and has variable success. Medical treatment involves the use of certain blood pressure medications (Beta blockers), some anti-seizure medications (Mysoline/Primidone) or even benzodiazepines (such as Valium, which works on same brain receptors as alcohol). Newer medications may also be used with mild to moderate success. Unfortunately, every medication has potential side-effects, and the medications for ET are no exception to that rule. In general, they may cause slowness, sleepiness, lethargy, or balance problems. However, some patients are able to achieve significant relief with one of these agents, so they should be tried adequately. Deep Brain Stimulation for ET works extremely well in many patients and should be considered the next option if the medications do not work and the tremor is debilitating.
Dystonia
Dystonia is an unwanted, sustained muscular contraction that can occur anywhere in the body and us usually uncomfortable and frequently painful. In many cases, it is debilitating. As the body fights to maintain normal posture or position by contracting other muscle groups, a twisted appearance or a tremor or both may develop. Dystonia can happen at any age, but usually affects older patients who have been afflicted by stroke, Parkinson Disease, injury, and other conditions. In this manner, dystonia is usually a finding on exam, rather than a separate disease. However, in some patients there is no other disease causing the dystonia; indeed, in such patients it may be the result of a genetic defect, especially if they are afflicted at a young age (Familial Dystonia).
In most cases, dystonia is focal, affecting only one body part or region. For example, cervical dystonia affects the neck musles. However, because the body is a balanced system, when one muscle group or region is not working properly, the body tends to respond by activating other muscles to compensate for the abnormal posture or position. In cervical dystonia, patients may develop a twist and tilt to the neck and head, often associated with a head tremor and significant pain. In some cases, it is difficult for these patients to eat, drive, or even walk due to the extreme twist and tilt they experience.
Sometimes dystonia is associated with certain activities and will occur only in that setting, with slow but progressive worsening to include activation by other movement or spread to other nearby muscle groups. A good example of this is “writer’s cramp,” which occurs initially after sustained sessions of writing with a pen or pencil, but may become easier to trigger over time and make writing, or even eating, quite difficult or impossible.
Other patients have dystonia while at rest, such as sitting in a chair or sleeping. For example, patients with Parkinson Disease may develop dystonia of the calf and foot that starts out early in the morning or at night, progressing to involve stronger contractions and longer bouts of contraction, becoming painful and interfering with walking. Dystonia at rest may lead to permanent contractures and dysfunction of the affected arm, leg, foot or hand. As with tremors, dystonia gets worse in tense situations, such as traffic, doctor’s visits, or eating in public.
Treatments for dystonia include medications, Botox, and Deep Brain Stimulation. Anti-cholinergic drugs such as Artane and Cogentin can be tried with mild to moderate success. Medications that relax the muscles, such as benzodiazepines like Ativan, can be helpful as well. Recently, Deep Brain Stimulation has been used with good success for different types of dystonia, especially Primary or Inherited Dystonia, but also in PD and Cervical Dysonia.
Botox (Botulinum toxin) therapy is perhaps the best treatment for certain types of dystonia when performed by an expert in this area. Botox can be injected in variable amounts and delivered to only the affected muscles, making those particular muscles weakened and relaxed, thereby avoiding the systemic effects of other treatments. Patients typically benefit from Botox therapy for 3-6 months. Patients with cervical dystonia affecting the neck, torticollis with twisting of the head, and blepharospasm of the eyes benefit quite well from Botox therapy. As with any drug, Botox has risks as well, including severe weakness, swallowing problems, etc., but these risks are quite low in the hands of an experienced physician.
Without medications or DBS, patients with mild dystonia may find physical therapy with stretching somewhat helpful. If the patient places a hand or finger on the affected area, it can help relax it enough to allow the patient to interact with others, see, or eat.
Dyskinesia
Abnormal, writhing or flailing movements of the head, arms, torso and/or legs can occur in some neurological conditions. If the movements can be stopped by the patient, they may represent dyskinesia. Other similar conditions include tic disorders (such as Tourette syndrome), myoclonus, and chorea. Parkinson Disease, especially when treated with medications, is the most common cause of dyskinesia, but it can also be caused by other conditions. When dyskinesia is drug-induced, treatment usually involves reducing or removing the offending agent, unless it is needed to allow the patient to function. Patients with PD would usually rather have some degree of dyskinesia than be immobile, so they often resist reduction of medications such as Sinemet that allow them to move. Amantidine is an interesting drug that has several different uses and can be uses to reduce dyskinesia without reducing medications.
Gait problems
Freedom of mobility, without slowness, fear of falling, or pain, is a gift that most of us take for granted. Changes in gait (walking) can happen slowly or suddenly. It can result from a wide array of problems, including injuries, stroke, knee or hip problems, pinched nerves, herniated discs, weakness, medication side-effects, Parkinson Disease, alcoholism, and diabetes, just to name a few.
Gait problems need to be evaluated by a physician who specializes in this area. The patient should be interviewed and carefully examined to look for problems with the muscles, joints, nerves, spine, eyes or central nervous system.
Patients with brain and spinal cord problems can have weakness, stiffness of limbs, vertigo, dizziness, low blood pressure, abnormal muscle jerks, imbalance or blindness. Patients with nerve problems can have numb legs and feet, which keeps them from sensing the position of their limbs, both at rest while standing as well as with active walking. A common example of this is Diabetes, which causes loss of the sensory nerves to the joints of the toes and ankles, thereby hindering the perception of limb position by the brain and spinal cord.
Patients with Parkinson Disease, Parkinsonism, and dystonia have poorly responsive muscles with may not allow them to react to changes in body position in time to correct themselves and prevent a fall. PD patients may also walk too quickly, letting their torso go ahead of their legs, a condition called festination. Balance while standing still or getting up out of a chair is also affected in many PD patients, causing them to fall backwards, a condition called retropulsion.
Alcohol and certain medications can cause wobbly gait and falls. Usually, any medication or concoction that can be a sedative also has the potential to cause gait problems. For instance, Valium can be used for anxiety and other problems, but too much can also cause a loss of balance.
Inner ear problems are often associated with dizziness and vertigo, affecting balance and gait with changes in position, especially early in the morning or when changing positions in bed. With proper diagnosis and treatment, significant improvement can happen.
Some cardiovascular and neurological medications are well-known to cause decreased blood pressure with standing, which results in light-headedness, dizziness, and, occasionally, falls with or without loss of consciousness. In addition, there are some neurological conditions, such as Parkinson Disease and Shy-Drager Syndrome, that may directly cause the blood pressure problem (known as orthostatic hypotension).
Gait disorders are complicated and often multi-factorial; consultation with a physician who specializes in these problems is indicated. Treatment is highly dependent upon the main cause of the gait problem and can range from medication adjustment to physical therapy to Botox and many more options.
Parkinsonism and Atypical Parkinson Disease
Parkinsonism is a description of symptoms and signs that can be seen in Parkinson Disease and in many other conditions. When these symptoms and signs occur in a particular pattern, they usually suggest the diagnosis of Parkinson Disease. However, not all patients have PD. Indeed, many patients have a clinical picture that defies diagnosis. They may have slowness of movement, tremor, trouble walking, frequent falls, lack of facial expression, soft voice, stiff muscles, drooling, and other aspects; furthermore, they may not be responsive to the typical PD treatments. In this case, diagnosis (or ruling-out a diagnosis) is essential because it helps us to direct our care plan specifically to the needs of the individual patient. For instance, some medications, such as Reglan or anti-psychotic medications, can cause parkinsonism that may very closely mimic PD, but the condition may be reversible by simply halting the offending medication. Problems with walking, balance and falls can be caused by a very wide variety of conditions other than PD, from joint pain to muscle weakness to problems with the spine or the brain; as you can imagine, the treatment of these conditions is quite specific, but does not involve PD medications. Of course, there are some brain-related problems that can cause parkinsonism and most of these are quite serious: Normal Pressure Hydrocephalus, changes in the small blood vessels in the brain, Lewy Body Dementia, severe depression, Parkinson Plus Syndromes. Whether or not you have PD or parkinsonism is important to try to determine, because we have many different, up-to-date treatments available to you here.
Normal Pressure Hydrocephalus
NPH is a condition associated with increased cerebrospinal fluid (CSF) inside the brain. CSF is found inside and around the outside of the brain and spinal cord, where is serves many functions, including protection from trauma, carrying hormones, and clearing out waste products. CSF is produced inside of the brain cavities (ventricles) continuously and also gets removed continuously. Decreased rate of removal of CSF causes build-up of fluid pressure inside the brain. When this happens in an infant, the ventricles get bigger and the entire brain expands; because the bones of the skull are not fused together yet, the entire head gets larger. In an adult, because the bones are fused and the head itself cannot get bigger, the CSF fluid compresses the brain matter itself. The brain cells that control walking and bladder function, as well as thinking, get compressed and do not work properly, resulting in the “clinical triad of NPH,” which consists of gait ataxia (unstable walking), incontinence of urine (loss of bladder control) and cognitive dysfunction (confusion or dementia). As the disease progresses, walking goes from unstable to impossible, with the feet appearing to be stuck to the floor (gait apraxia).
What causes NPH? It seems to be associated with head injuries, strokes, bleeding inside the skull of any sort, brain infections, and other problems, all of which seem to increase the overall amount of proteins in the CSF (due to breakdown of brain and blood cells). The result is that the mechanism for removing the fluid becomes overloaded, but the production of CSF continues unabated, resulting in the pressure build-up.
Diagnosis of NPH can be quite difficult for several reasons. If a patient clearly has the clinical triad mentioned above and has been getting worse over a relatively short time-period (weeks to months), and the exam fits with the history, a brain scan should be obtained (preferably an MRI) to help confirm the problem. Usually, however, there are additional factors which confuse the issue. For instance, gait problems can be caused by many different issues. The same can be said for bladder problems and for dementia. The brain scan may show other problems that were not expected, such as small strokes or atrophy (shrinkage) of the brain. Rarely is the diagnosis easy or certain.
If the history, exam and brain scan make NPH seem likely based on an expert’s opinion, then further testing should ensue. A lumbar puncture (also called a “spinal tap”) should be performed in coordination with other very important tests. A cognitive assessment should be performed before and after the spinal tap, hopefully by a neuropsychologist, psychiatrist, or neurologist. Assessment of gait should also be performed before and after the spinal tap, preferably by a physical therapist or neurologist. Ideally, these test should be performed up to 1 hour before the spinal tap, within an hour after the spinal tap, and again several days later (this makes 3 different assessments for each specialist). A large volume of CSF should be removed during the spinal tap. The fluid should be examined in the laboratory for infections.
If the cognitive and gait tests indicate an improvement after the spinal tap, it suggests that a more permanent reduction of fluid pressure is indicated. In the hands of a skilled neurosurgeon, this can be achieved by placement of a tube (“shunt”) through the skull into the ventricles to relieve the excess pressure. The fluid that is removed from the brain is “shunted” to the abdomen via a small tube. In the best cases, shunting results in significant improvement of all the conditions in the triad of NPH for many years to come. In some patients, there is only a short benefit or no benefit at all. In a small percentage of cases, as with any neurosurgical procedure, bleeding or infection may occur and further complicate the issue. Clearly, Normal Pressure Hydrocephalus is a complicated issue that requires evaluation by several trained specialists in a coordinated manner to achieve the right diagnosis, testing and treatment.
Parkinsonian Syndromes
Many different diseases and syndromes can look like Parkinson Disease in that they may include gait and balance problems, falls, tremor, masked face, soft voice and other features. If the diagnosis of PD is not obvious, and other causes of Parkinsonism have been ruled out, several other diseases need to be considered.
Lewy Body Disease, or Dementia with Lewy Bodies, is a somewhat common disease associated with parkinsonism which can look quite similar to PD, but the motor problems only come after dementia symptoms have been present for a period of months to years. Typically, patients have hallucinations and other cognitive problems first, followed later by gait and motor problems. They are often misdiagnosed with Alzheimer Disease initially. Another suggestive feature is worsening of the hallucinations when anti-psychotic medications are given. Such patients may or may not respond to typical PD drugs; occasionally, these may make symptoms worse. Interestingly, patients with Lewy Body Disease may respond exceedingly well to typical Alzheimer drugs, like Aricept or Exelon. Patients may either stabilize and have a relatively slow progression or have a more rapid, unrelenting course.
Several other disorders are lumped together under the rubric of Parkinson Plus Syndrome. They are all progressive problems and include dementia as a complicating factor either early on or later in the process:
Progressive Supranuclear Palsy involves parkinsonism and poor eye movement. Especially prominent is a tendency to fall forward or backward with very poor ability to correct ones self; patients become cautious and even fearful of walking or standing. Eye movements, especially upward and downward, become affected and limited, with some patients virtually unable to voluntarily move their eyes (while unconscious, reflexive eye movements remain intact). Dementia symptoms eventually ensue, as do personality changes. Swallowing problems (dysphagia) are common and nutritional issues become prominent later on. PSP tends to come on earlier than PD, usually in the 50s, but can occur at just about any age.
Corticobasalgangionic Degeneration (also known as Coticobasal Degeneration or simply CBD) has many similar characteristics to PD, but involves interesting and unusual features, such as “Alien Limb Phenomenon” in which one arm or leg seems to act on it’s own. Patients often have language problems or difficult speech. They may not be able to distinguish items placed in the hand. One arm or leg may become affected by Dystonia. These patients are poorly responsive to typical PD drugs, although they may be tried. Dementia symptoms, in addition to the language problems, often occur and the patient may be tried on typical Alzheimer drugs. Botox therapy may be used successfully in some of these patients. MRI of the brain may show a combination of atrophy in the parietal lobes and the basal ganglia.
Shy-Drager Syndrome (also called Multiple System Atrophy with Orthostatic Hypotension) includes parkinsonism associated with debilitating drops in blood pressure when standing (orthostatic hypotension), as well as dementia. There is a predominantly parkinsonian subtype, a cerebellar subtype (which involves more gait and balance issues) and a mixed subtype. Autonomic problems such as decreased sweating and impotence may be early symptoms. Treatment involves management of blood pressure issues, but treatment with PD drugs may be somewhat helpful in certain cases.
Striatonigral Degeneration (SND) is very similar to PD in its onset and progression, although patients tend to be poorly responsive to PD drugs and may or may not have a resting tremor. While progressive and often debilitating, SND may allow patients to live a normal lifespan. This is one of the few Parkinson Plus Syndromes that may show up on an MRI of the brain.
Tic Disorders
Tics are repetitive movements or behaviors that are partially controllable but eventually must be expressed. They are extremely common, with an estimated 20% of the population being affected at some point, though as a rule tics are seen in young persons, especially children. Tics are quite variable and interesting. They can be simple or complex, mild or severe, brief or long-lasting, bothersome or subtle. Usually, the person with the tic is not bothered it, rather it is the bystanders who are upset or disrupted. When the tic is frequent, bothersome, or unsightly, people seek treatment. Tics often begin as simple behaviors that may transform into more complex behaviors or different behaviors. Interestingly, tics can usually be suppressed by the patient for only a brief time period, then have to be expressed in order to release a sense of pressure or anxiety. Scrutiny and social situations may make the tic worse.
Tic syndromes, such as Tourette syndrome, involve tics that may arise and later go away, only to be replace by a different tic. For instance, a girl may have a throat-clearing tic for several weeks that slowly abates, only to be replaced by a tic involving blinking and a head nod. In some, uncommon, cases, patients have verbal output that is shocking in it’s obscene nature. While this is rarely seen, the popular media portray this variant of Tourette syndrome quite frequently.
Treatment of tics is varied and may involve behavioural measures, education, sedative such as clonazepam, anti-psychotics such as Orap, and other medications to reduce the frequency and severity.
Ataxia
Ataxia is a general term that refers to uncoordinated movement, either of limbs or of locomotor behavior (walking). It can be caused by a wide number of disorders, including stroke, cerebellar disease, medications, alcohol, inherited disorders, dementing conditions, vitamin deficiencies, nerve damage, etc. For instance, brainstem strokes can cause poor control of movement of the arm, resulting in a wobbly, weak, or numb limb. Increased brain pressure (NPH) can cause abnormalities of walking and the patient may weave around or may fall frequently.
Restless Legs Syndrome (RLS)
Thanks to television adverstising, most people are aware of Restless Legs Syndrome (RLS). It consists of an irresistible urge to move ones body parts in order to stop or reduce uncomfortable sensations. Although usually associated with the legs (hence, the name), it can affect the arms and torso as well. While night-time or bed-time is the most frequent time of attack of symptoms, some patients have “breakthrough” symptoms that occur in the daytime during normal activity. The most common complaint, next to the uncomfortable sensation, is sleep disturbance, either in the patient or in the patient’s bed=partner. Sleep may be delayed or even impossible. The exact sensation with RLS is often difficult for patients to describe, but they know they feel better with wiggling or flexing the limbs. Often, they may get out of bed to walk around, or take a warm shower, just to relieve the feeling. RLS affects about 7-10% of the population, is twice as common in women than men, and more common in caucasians than other other ethnic groups. Certain conditions are associated with increased risk of RLS, such as pregnancy, iron-deficiency, kidney disease, Parkinson disease, peripheral neuropathy, and pinched nerves in the lower back. Interestingly, up to 90% of RLS patients also have a separate sleep disorder called PLMS (Periodic Leg Movements of Sleep), which involves slow jerking of the arms or legs during sleep. Up to 60% of cases are inherited, or familial, with an “autosomal dominant” pattern of inheritance; if one parent has RLS, there is a 50% chance that any child will suffer RLS.
The good news is that there is treatment for RLS. Dopaminergic drugs have been used to control this problem off-label for many years. However, they have now been approved by the FDA for this purpose (Requip, or ropinerole). Other drugs commonly used include benzodiazepines such as clonazepam, diazepam or alprazolam and anti-seizure medications such as gabapentin. Certain things that will make RLS worse include anxiety, insomnia, alcohol and lack of exercise. Neurologists have been using Requip, Mirapex, Sinemet and clonazepam to treat RLS for a long while, but only recently has the general public become aware of this problem. While dopaminergic drugs do, indeed, work for RLS, there is some concern that using them may cause symptoms to appear earlier or be more robust, a phenomenon called “augmentation.”
Another aspect of evaluation may include measurement of serum ferritin, a measurement of iron storage. If the serum ferretin level is less than 50 micrograms, up to 50% of patients in this category may improve with iron supplemenation. If you suspect you have RLS, you should be evaluated by a neurologist or sleep specialist in order to determine the best treatment.
Huntington’s Chorea
Also known as Huntington Disease (HD), this condition is found in a very small number of patients, but has quite dire consequences. Symptoms include jerky movements called chorea as well as progressive deterioration in mental capacity. Patients may exhibit depression, suicide, and early death. In the U.S., about 5 out of 100,000 people are affected. A clear genetic cause has been identified for many years now, and genetic testing is commonly offered. The neurological symptoms and signs of HD are the result of brain cell dysfunction and death caused by build-up of abnormal protein. Due to the nature of the inheritance mechanisms, each succeeding generation tends to get the symptoms earlier than the previous generation; for instance, a father who exhibits HD at age 50 will often have children who exhibit HD at age 40, a phenomenon called "anticipation."
Torticollis and Cervical Dystonia
Cervical Dystonia, or CD, is a form of focal dystonia affecting the neck musles. It is also often called Spasmodic Torticollis, although most specialists consider it a subtype of CD and reserve this term for CD patients with a tilt and/or rotation of the head. Abnormal postures or movements are seen and can often be painful, disabling, or disfiguring. Age of onset of symptoms is somewhere between 20 and 60. It is twice as common in women. Most cases are idiopathic (unknown cause), but some can clearly be linked to family history, trauma, or musculoskeletal deformities. Up to 15% of affected patients have a family member with CD, and a few genes have been identified which are clearly linked to this disease. While medical treatments such as Artane can be tried with limited success, the treatment of choice is Botox injection into the affected muscles, with relief lasting somewhere between 3 and 6 months.
- Parkinson Disease
- Essential Tremor
- Dystonia
- Dyskinesia
- Gait problems
- Parkinsonism
- Normal Pressure Hydrocephalus
- Parkinsonian Syndromes
- Tic Disorders
- Ataxia
- Restless Legs Syndrome (RLS)
- Huntington's Chorea
- Torticollis and Cervical Dystonia
- Other Neuro Disorders
Essential Tremor
Essential Tremor, or ET, is quite common and affects up to 10 million people in the U.S. It affects for more people than does Parkinson Disease (PD). ET usually starts out in the hands and is characterized by worsening with movement. When still or relaxed, there is usually no tremor at all. As soon movement is attempted, tremor becomes noticeable and may affect common and necessary activities, such as writing, eating with a spoon, buttoning clothes. ET tends to start out slowly and may take quite a long time to become bothersome enough that the affected person seeks help. With time, the tremor may spread to other parts of the body, especially the head, mouth, or voice, but occasionally may spread to the legs or feet as well. In some patients, the tremor stays at a low level for their entire life and never becomes debilitating.
How you know if you have essential tremor? Although some cases can be quite confusing, most patients with ET have tremor in both hands that gets worse with action or trying to hold the hands still while the arms are extended. It gets better with resting the hands. Most patients will also notice a significant improvement in the tremor after a drink of alcohol.
This is quite different from the tremor associated with PD, which tends to start on one side and gets worse with resting. Another important factor can be a family history of ET (which is then called Familial Tremor, or Benign Familial Tremor). A sensation of internal shaking or tremor may also be noted, although this can also be associated with other conditions.
People with ET seek help for several reasons; when the tremor starts to interfere with everyday activities, when it interferes with eating or drinking, or when it is socially embarrassing. Many patients complain that they are no longer able to write in a legible fashion and cannot make out checks or sign their name. People with hobbies such as painting or model-making become frustrated as manipulation of small tools and objects is no longer possible. Often, they must rely on others or modify activities, such as switching to an electric razor.
When ET affects the head or mouth, it may cause embarrassment in public, which only tends to make the tremor worse. Certain head tremors can make the patient appear to be agreeing or disagreeing with everything that is discussed. For instance, one patient related that she was afraid to go to an auction because she was worried that the auctioneer would think she was bidding on all items! Vocal tremor can be embarrassing as well, or it can be debilitating and make communication difficult.
Treatment for ET is available and has variable success. Medical treatment involves the use of certain blood pressure medications (Beta blockers), some anti-seizure medications (Mysoline/Primidone) or even benzodiazepines (such as Valium, which works on same brain receptors as alcohol). Newer medications may also be used with mild to moderate success. Unfortunately, every medication has potential side-effects, and the medications for ET are no exception to that rule. In general, they may cause slowness, sleepiness, lethargy, or balance problems. However, some patients are able to achieve significant relief with one of these agents, so they should be tried adequately. Deep Brain Stimulation for ET works extremely well in many patients and should be considered the next option if the medications do not work and the tremor is debilitating.
Dystonia
Dystonia is an unwanted, sustained muscular contraction that can occur anywhere in the body and us usually uncomfortable and frequently painful. In many cases, it is debilitating. As the body fights to maintain normal posture or position by contracting other muscle groups, a twisted appearance or a tremor or both may develop. Dystonia can happen at any age, but usually affects older patients who have been afflicted by stroke, Parkinson Disease, injury, and other conditions. In this manner, dystonia is usually a finding on exam, rather than a separate disease. However, in some patients there is no other disease causing the dystonia; indeed, in such patients it may be the result of a genetic defect, especially if they are afflicted at a young age (Familial Dystonia).
In most cases, dystonia is focal, affecting only one body part or region. For example, cervical dystonia affects the neck musles. However, because the body is a balanced system, when one muscle group or region is not working properly, the body tends to respond by activating other muscles to compensate for the abnormal posture or position. In cervical dystonia, patients may develop a twist and tilt to the neck and head, often associated with a head tremor and significant pain. In some cases, it is difficult for these patients to eat, drive, or even walk due to the extreme twist and tilt they experience.
Sometimes dystonia is associated with certain activities and will occur only in that setting, with slow but progressive worsening to include activation by other movement or spread to other nearby muscle groups. A good example of this is “writer’s cramp,” which occurs initially after sustained sessions of writing with a pen or pencil, but may become easier to trigger over time and make writing, or even eating, quite difficult or impossible.
Other patients have dystonia while at rest, such as sitting in a chair or sleeping. For example, patients with Parkinson Disease may develop dystonia of the calf and foot that starts out early in the morning or at night, progressing to involve stronger contractions and longer bouts of contraction, becoming painful and interfering with walking. Dystonia at rest may lead to permanent contractures and dysfunction of the affected arm, leg, foot or hand. As with tremors, dystonia gets worse in tense situations, such as traffic, doctor’s visits, or eating in public.
Treatments for dystonia include medications, Botox, and Deep Brain Stimulation. Anti-cholinergic drugs such as Artane and Cogentin can be tried with mild to moderate success. Medications that relax the muscles, such as benzodiazepines like Ativan, can be helpful as well. Recently, Deep Brain Stimulation has been used with good success for different types of dystonia, especially Primary or Inherited Dystonia, but also in PD and Cervical Dysonia.
Botox (Botulinum toxin) therapy is perhaps the best treatment for certain types of dystonia when performed by an expert in this area. Botox can be injected in variable amounts and delivered to only the affected muscles, making those particular muscles weakened and relaxed, thereby avoiding the systemic effects of other treatments. Patients typically benefit from Botox therapy for 3-6 months. Patients with cervical dystonia affecting the neck, torticollis with twisting of the head, and blepharospasm of the eyes benefit quite well from Botox therapy. As with any drug, Botox has risks as well, including severe weakness, swallowing problems, etc., but these risks are quite low in the hands of an experienced physician.
Without medications or DBS, patients with mild dystonia may find physical therapy with stretching somewhat helpful. If the patient places a hand or finger on the affected area, it can help relax it enough to allow the patient to interact with others, see, or eat.
Dyskinesia
Abnormal, writhing or flailing movements of the head, arms, torso and/or legs can occur in some neurological conditions. If the movements can be stopped by the patient, they may represent dyskinesia. Other similar conditions include tic disorders (such as Tourette syndrome), myoclonus, and chorea. Parkinson Disease, especially when treated with medications, is the most common cause of dyskinesia, but it can also be caused by other conditions. When dyskinesia is drug-induced, treatment usually involves reducing or removing the offending agent, unless it is needed to allow the patient to function. Patients with PD would usually rather have some degree of dyskinesia than be immobile, so they often resist reduction of medications such as Sinemet that allow them to move. Amantidine is an interesting drug that has several different uses and can be uses to reduce dyskinesia without reducing medications.
Gait problems
Freedom of mobility, without slowness, fear of falling, or pain, is a gift that most of us take for granted. Changes in gait (walking) can happen slowly or suddenly. It can result from a wide array of problems, including injuries, stroke, knee or hip problems, pinched nerves, herniated discs, weakness, medication side-effects, Parkinson Disease, alcoholism, and diabetes, just to name a few.
Gait problems need to be evaluated by a physician who specializes in this area. The patient should be interviewed and carefully examined to look for problems with the muscles, joints, nerves, spine, eyes or central nervous system.
Patients with brain and spinal cord problems can have weakness, stiffness of limbs, vertigo, dizziness, low blood pressure, abnormal muscle jerks, imbalance or blindness. Patients with nerve problems can have numb legs and feet, which keeps them from sensing the position of their limbs, both at rest while standing as well as with active walking. A common example of this is Diabetes, which causes loss of the sensory nerves to the joints of the toes and ankles, thereby hindering the perception of limb position by the brain and spinal cord.
Patients with Parkinson Disease, Parkinsonism, and dystonia have poorly responsive muscles with may not allow them to react to changes in body position in time to correct themselves and prevent a fall. PD patients may also walk too quickly, letting their torso go ahead of their legs, a condition called festination. Balance while standing still or getting up out of a chair is also affected in many PD patients, causing them to fall backwards, a condition called retropulsion.
Alcohol and certain medications can cause wobbly gait and falls. Usually, any medication or concoction that can be a sedative also has the potential to cause gait problems. For instance, Valium can be used for anxiety and other problems, but too much can also cause a loss of balance.
Inner ear problems are often associated with dizziness and vertigo, affecting balance and gait with changes in position, especially early in the morning or when changing positions in bed. With proper diagnosis and treatment, significant improvement can happen.
Some cardiovascular and neurological medications are well-known to cause decreased blood pressure with standing, which results in light-headedness, dizziness, and, occasionally, falls with or without loss of consciousness. In addition, there are some neurological conditions, such as Parkinson Disease and Shy-Drager Syndrome, that may directly cause the blood pressure problem (known as orthostatic hypotension).
Gait disorders are complicated and often multi-factorial; consultation with a physician who specializes in these problems is indicated. Treatment is highly dependent upon the main cause of the gait problem and can range from medication adjustment to physical therapy to Botox and many more options.
Parkinsonism and Atypical Parkinson Disease
Parkinsonism is a description of symptoms and signs that can be seen in Parkinson Disease and in many other conditions. When these symptoms and signs occur in a particular pattern, they usually suggest the diagnosis of Parkinson Disease. However, not all patients have PD. Indeed, many patients have a clinical picture that defies diagnosis. They may have slowness of movement, tremor, trouble walking, frequent falls, lack of facial expression, soft voice, stiff muscles, drooling, and other aspects; furthermore, they may not be responsive to the typical PD treatments. In this case, diagnosis (or ruling-out a diagnosis) is essential because it helps us to direct our care plan specifically to the needs of the individual patient. For instance, some medications, such as Reglan or anti-psychotic medications, can cause parkinsonism that may very closely mimic PD, but the condition may be reversible by simply halting the offending medication. Problems with walking, balance and falls can be caused by a very wide variety of conditions other than PD, from joint pain to muscle weakness to problems with the spine or the brain; as you can imagine, the treatment of these conditions is quite specific, but does not involve PD medications. Of course, there are some brain-related problems that can cause parkinsonism and most of these are quite serious: Normal Pressure Hydrocephalus, changes in the small blood vessels in the brain, Lewy Body Dementia, severe depression, Parkinson Plus Syndromes. Whether or not you have PD or parkinsonism is important to try to determine, because we have many different, up-to-date treatments available to you here.
Normal Pressure Hydrocephalus
NPH is a condition associated with increased cerebrospinal fluid (CSF) inside the brain. CSF is found inside and around the outside of the brain and spinal cord, where is serves many functions, including protection from trauma, carrying hormones, and clearing out waste products. CSF is produced inside of the brain cavities (ventricles) continuously and also gets removed continuously. Decreased rate of removal of CSF causes build-up of fluid pressure inside the brain. When this happens in an infant, the ventricles get bigger and the entire brain expands; because the bones of the skull are not fused together yet, the entire head gets larger. In an adult, because the bones are fused and the head itself cannot get bigger, the CSF fluid compresses the brain matter itself. The brain cells that control walking and bladder function, as well as thinking, get compressed and do not work properly, resulting in the “clinical triad of NPH,” which consists of gait ataxia (unstable walking), incontinence of urine (loss of bladder control) and cognitive dysfunction (confusion or dementia). As the disease progresses, walking goes from unstable to impossible, with the feet appearing to be stuck to the floor (gait apraxia).
What causes NPH? It seems to be associated with head injuries, strokes, bleeding inside the skull of any sort, brain infections, and other problems, all of which seem to increase the overall amount of proteins in the CSF (due to breakdown of brain and blood cells). The result is that the mechanism for removing the fluid becomes overloaded, but the production of CSF continues unabated, resulting in the pressure build-up.
Diagnosis of NPH can be quite difficult for several reasons. If a patient clearly has the clinical triad mentioned above and has been getting worse over a relatively short time-period (weeks to months), and the exam fits with the history, a brain scan should be obtained (preferably an MRI) to help confirm the problem. Usually, however, there are additional factors which confuse the issue. For instance, gait problems can be caused by many different issues. The same can be said for bladder problems and for dementia. The brain scan may show other problems that were not expected, such as small strokes or atrophy (shrinkage) of the brain. Rarely is the diagnosis easy or certain.
If the history, exam and brain scan make NPH seem likely based on an expert’s opinion, then further testing should ensue. A lumbar puncture (also called a “spinal tap”) should be performed in coordination with other very important tests. A cognitive assessment should be performed before and after the spinal tap, hopefully by a neuropsychologist, psychiatrist, or neurologist. Assessment of gait should also be performed before and after the spinal tap, preferably by a physical therapist or neurologist. Ideally, these test should be performed up to 1 hour before the spinal tap, within an hour after the spinal tap, and again several days later (this makes 3 different assessments for each specialist). A large volume of CSF should be removed during the spinal tap. The fluid should be examined in the laboratory for infections.
If the cognitive and gait tests indicate an improvement after the spinal tap, it suggests that a more permanent reduction of fluid pressure is indicated. In the hands of a skilled neurosurgeon, this can be achieved by placement of a tube (“shunt”) through the skull into the ventricles to relieve the excess pressure. The fluid that is removed from the brain is “shunted” to the abdomen via a small tube. In the best cases, shunting results in significant improvement of all the conditions in the triad of NPH for many years to come. In some patients, there is only a short benefit or no benefit at all. In a small percentage of cases, as with any neurosurgical procedure, bleeding or infection may occur and further complicate the issue. Clearly, Normal Pressure Hydrocephalus is a complicated issue that requires evaluation by several trained specialists in a coordinated manner to achieve the right diagnosis, testing and treatment.
Parkinsonian Syndromes
Many different diseases and syndromes can look like Parkinson Disease in that they may include gait and balance problems, falls, tremor, masked face, soft voice and other features. If the diagnosis of PD is not obvious, and other causes of Parkinsonism have been ruled out, several other diseases need to be considered.
Lewy Body Disease, or Dementia with Lewy Bodies, is a somewhat common disease associated with parkinsonism which can look quite similar to PD, but the motor problems only come after dementia symptoms have been present for a period of months to years. Typically, patients have hallucinations and other cognitive problems first, followed later by gait and motor problems. They are often misdiagnosed with Alzheimer Disease initially. Another suggestive feature is worsening of the hallucinations when anti-psychotic medications are given. Such patients may or may not respond to typical PD drugs; occasionally, these may make symptoms worse. Interestingly, patients with Lewy Body Disease may respond exceedingly well to typical Alzheimer drugs, like Aricept or Exelon. Patients may either stabilize and have a relatively slow progression or have a more rapid, unrelenting course.
Several other disorders are lumped together under the rubric of Parkinson Plus Syndrome. They are all progressive problems and include dementia as a complicating factor either early on or later in the process:
Progressive Supranuclear Palsy involves parkinsonism and poor eye movement. Especially prominent is a tendency to fall forward or backward with very poor ability to correct ones self; patients become cautious and even fearful of walking or standing. Eye movements, especially upward and downward, become affected and limited, with some patients virtually unable to voluntarily move their eyes (while unconscious, reflexive eye movements remain intact). Dementia symptoms eventually ensue, as do personality changes. Swallowing problems (dysphagia) are common and nutritional issues become prominent later on. PSP tends to come on earlier than PD, usually in the 50s, but can occur at just about any age.
Corticobasalgangionic Degeneration (also known as Coticobasal Degeneration or simply CBD) has many similar characteristics to PD, but involves interesting and unusual features, such as “Alien Limb Phenomenon” in which one arm or leg seems to act on it’s own. Patients often have language problems or difficult speech. They may not be able to distinguish items placed in the hand. One arm or leg may become affected by Dystonia. These patients are poorly responsive to typical PD drugs, although they may be tried. Dementia symptoms, in addition to the language problems, often occur and the patient may be tried on typical Alzheimer drugs. Botox therapy may be used successfully in some of these patients. MRI of the brain may show a combination of atrophy in the parietal lobes and the basal ganglia.
Shy-Drager Syndrome (also called Multiple System Atrophy with Orthostatic Hypotension) includes parkinsonism associated with debilitating drops in blood pressure when standing (orthostatic hypotension), as well as dementia. There is a predominantly parkinsonian subtype, a cerebellar subtype (which involves more gait and balance issues) and a mixed subtype. Autonomic problems such as decreased sweating and impotence may be early symptoms. Treatment involves management of blood pressure issues, but treatment with PD drugs may be somewhat helpful in certain cases.
Striatonigral Degeneration (SND) is very similar to PD in its onset and progression, although patients tend to be poorly responsive to PD drugs and may or may not have a resting tremor. While progressive and often debilitating, SND may allow patients to live a normal lifespan. This is one of the few Parkinson Plus Syndromes that may show up on an MRI of the brain.
Tic Disorders
Tics are repetitive movements or behaviors that are partially controllable but eventually must be expressed. They are extremely common, with an estimated 20% of the population being affected at some point, though as a rule tics are seen in young persons, especially children. Tics are quite variable and interesting. They can be simple or complex, mild or severe, brief or long-lasting, bothersome or subtle. Usually, the person with the tic is not bothered it, rather it is the bystanders who are upset or disrupted. When the tic is frequent, bothersome, or unsightly, people seek treatment. Tics often begin as simple behaviors that may transform into more complex behaviors or different behaviors. Interestingly, tics can usually be suppressed by the patient for only a brief time period, then have to be expressed in order to release a sense of pressure or anxiety. Scrutiny and social situations may make the tic worse.
Tic syndromes, such as Tourette syndrome, involve tics that may arise and later go away, only to be replace by a different tic. For instance, a girl may have a throat-clearing tic for several weeks that slowly abates, only to be replaced by a tic involving blinking and a head nod. In some, uncommon, cases, patients have verbal output that is shocking in it’s obscene nature. While this is rarely seen, the popular media portray this variant of Tourette syndrome quite frequently.
Treatment of tics is varied and may involve behavioural measures, education, sedative such as clonazepam, anti-psychotics such as Orap, and other medications to reduce the frequency and severity.
Ataxia
Ataxia is a general term that refers to uncoordinated movement, either of limbs or of locomotor behavior (walking). It can be caused by a wide number of disorders, including stroke, cerebellar disease, medications, alcohol, inherited disorders, dementing conditions, vitamin deficiencies, nerve damage, etc. For instance, brainstem strokes can cause poor control of movement of the arm, resulting in a wobbly, weak, or numb limb. Increased brain pressure (NPH) can cause abnormalities of walking and the patient may weave around or may fall frequently.
Restless Legs Syndrome (RLS)
Thanks to television adverstising, most people are aware of Restless Legs Syndrome (RLS). It consists of an irresistible urge to move ones body parts in order to stop or reduce uncomfortable sensations. Although usually associated with the legs (hence, the name), it can affect the arms and torso as well. While night-time or bed-time is the most frequent time of attack of symptoms, some patients have “breakthrough” symptoms that occur in the daytime during normal activity. The most common complaint, next to the uncomfortable sensation, is sleep disturbance, either in the patient or in the patient’s bed=partner. Sleep may be delayed or even impossible. The exact sensation with RLS is often difficult for patients to describe, but they know they feel better with wiggling or flexing the limbs. Often, they may get out of bed to walk around, or take a warm shower, just to relieve the feeling. RLS affects about 7-10% of the population, is twice as common in women than men, and more common in caucasians than other other ethnic groups. Certain conditions are associated with increased risk of RLS, such as pregnancy, iron-deficiency, kidney disease, Parkinson disease, peripheral neuropathy, and pinched nerves in the lower back. Interestingly, up to 90% of RLS patients also have a separate sleep disorder called PLMS (Periodic Leg Movements of Sleep), which involves slow jerking of the arms or legs during sleep. Up to 60% of cases are inherited, or familial, with an “autosomal dominant” pattern of inheritance; if one parent has RLS, there is a 50% chance that any child will suffer RLS.
The good news is that there is treatment for RLS. Dopaminergic drugs have been used to control this problem off-label for many years. However, they have now been approved by the FDA for this purpose (Requip, or ropinerole). Other drugs commonly used include benzodiazepines such as clonazepam, diazepam or alprazolam and anti-seizure medications such as gabapentin. Certain things that will make RLS worse include anxiety, insomnia, alcohol and lack of exercise. Neurologists have been using Requip, Mirapex, Sinemet and clonazepam to treat RLS for a long while, but only recently has the general public become aware of this problem. While dopaminergic drugs do, indeed, work for RLS, there is some concern that using them may cause symptoms to appear earlier or be more robust, a phenomenon called “augmentation.”
Another aspect of evaluation may include measurement of serum ferritin, a measurement of iron storage. If the serum ferretin level is less than 50 micrograms, up to 50% of patients in this category may improve with iron supplemenation. If you suspect you have RLS, you should be evaluated by a neurologist or sleep specialist in order to determine the best treatment.
Huntington’s Chorea
Also known as Huntington Disease (HD), this condition is found in a very small number of patients, but has quite dire consequences. Symptoms include jerky movements called chorea as well as progressive deterioration in mental capacity. Patients may exhibit depression, suicide, and early death. In the U.S., about 5 out of 100,000 people are affected. A clear genetic cause has been identified for many years now, and genetic testing is commonly offered. The neurological symptoms and signs of HD are the result of brain cell dysfunction and death caused by build-up of abnormal protein. Due to the nature of the inheritance mechanisms, each succeeding generation tends to get the symptoms earlier than the previous generation; for instance, a father who exhibits HD at age 50 will often have children who exhibit HD at age 40, a phenomenon called "anticipation."
Torticollis and Cervical Dystonia
Cervical Dystonia, or CD, is a form of focal dystonia affecting the neck musles. It is also often called Spasmodic Torticollis, although most specialists consider it a subtype of CD and reserve this term for CD patients with a tilt and/or rotation of the head. Abnormal postures or movements are seen and can often be painful, disabling, or disfiguring. Age of onset of symptoms is somewhere between 20 and 60. It is twice as common in women. Most cases are idiopathic (unknown cause), but some can clearly be linked to family history, trauma, or musculoskeletal deformities. Up to 15% of affected patients have a family member with CD, and a few genes have been identified which are clearly linked to this disease. While medical treatments such as Artane can be tried with limited success, the treatment of choice is Botox injection into the affected muscles, with relief lasting somewhere between 3 and 6 months.