My Doctor Online The Permanente Medical Group

Types

.

There are many different types of dystonias. Some dystonias affect a specific area of the body:

• Focal dystonias. Muscle contractions occur in one specific part of the body. 
• Generalized dystonia can affect the entire body. 
• Multifocal dystonia involves 2 or more unrelated body parts.
• Segmental dystonia affects 2 or more adjacent parts of the body, as in cervical dystonia, which affects the neck and shoulder muscles.

Other types affect certain age groups and/or feature specific symptom patterns:

Adult dystonias

• Cervical dystonia. This form of dystonia, also known as spasmodic torticollis, affects the neck and shoulder muscles. 
• Blepharospasm. Blepharospasm affects the muscles of the eyelids and eyebrow. It causes excessive eyelid blinking and/or forceful eyelid closure.
• Oromandibular dystonia. This is characterized by involuntary contractions of the face, jaw, or tongue.
• Laryngeal dystonia (spasmodic dysphonia). This causes spasms in the vocal chords and the muscles that control speech. The speech may be high pitched or strained.
• Writer's cramp. This is a dystonia that affects the muscles of the hand and the forearm during handwriting. Writer's cramp is known as a task-specific dystonia. Task-specific means that the symptoms of cramping and muscle contractions only occur when you are participating in a specific activity. When you stop the activity, the symptoms stop.
  

Childhood dystonias

The following forms of dystonia affect children and adolescents more than adults:

• Early-onset generalized dystonia. Early-onset generalized dystonia usually begins with contractions and muscle spasms in one arm or leg. Over time, the symptoms spread to other parts of the body.  This is the most common hereditary form of dystonia, in many cases caused by a mutation in a gene called DYT1. There is variable expression with this gene. Not all children who have this mutated gene will develop dystonia – it is estimated that about 60 to 70 percent who manifest the mutated gene will never have symptoms. Many other genes have also been implicated in genetic dystonia.
• Dopa-responsive dystonia (DRD). This is an uncommon dystonia that is genetic. The first symptom, which often first appears during childhood, is usually difficulty walking. The symptoms are very similar to the symptoms of cerebral palsy and Parkinson's disease. DRD is a genetic disorder caused by a deficiency of dopamine, a chemical neurotransmitter that is produced naturally in the brain. A neurotransmitter facilitates communication between nerve cells. Children or teens with this form of dystonia respond to a medication called levodopa, a chemical precursor of dopamine.

Causes

.

Current research suggests that dystonia develops when certain nerves in an area of the brain called the basal ganglia stop working normally. The basal ganglia controls and coordinates muscle movements. In most cases, we don't know what causes these changes in nerve function. However, some dystonias do seem to be linked to specific genetic changes. 

Risk factors

The following factors can increase your risk of developing dystonia:

• Family history. If you have a family member with dystonia, this may increase your risk of developing dystonia. For example, inheriting the mutated DYT1 gene may increase a child's chances of developing early-onset dystonia. However, not all children who have this mutated gene will develop dystonia – it is estimated that about 60 to 70 percent who manifest the mutated gene will never have symptoms. 
• Age. Some dystonias are associated with a specific age group.
• Ethnicity. As a group, dystonias affect people of all races and ethnicities. However, certain types of dystonias seem to affect specific groups rather than others. For example, people of European Ashkenazi Jewish descent are more likely to develop DYT1 dystonia than people from other ethnic groups.

Symptoms

.

Your symptoms will depend on the specific type of dystonia that you have. Some people may have very mild symptoms that are triggered by stress and/or fatigue.

Dystonia symptoms may be mild and stay that way, or they become worse over time. They can start gradually or become severe suddenly. A dystonia that begins in adulthood is more likely to persist as a focal or segmental dystonia without spreading to other parts of the body.

Symptoms of Specific Dystonias

.

Cervical dystonia

• The neck may pull to one side or jerk backward or forward.
• The neck may twist sharply or tilt.
• Pain is common when the movements occur.
• Symptoms may stop for a period of time, even for a number of years, although they usually come back.

Generalized dystonia

• Involuntary muscle contractions can occur anywhere in the body.
• Early symptoms usually occur in the limbs, causing the limbs to twist involuntarily.
• Symptoms often spread to other areas of the body over time.
  

Focal dystonia

• Spasms develop in a specific body part or area.
• Sometimes spasms and contractions occur when you are performing a specific task; for example, writing.  When the affected body part is not active, symptoms stop. 
• Symptoms may get worse over time, causing contractures.
• Movements of one body part may trigger an involuntary spasm in another area of the body, a symptom known as "overflow."

Diagnosis

.

We don't have one definitive test for diagnosing dystonia. If you are having symptoms that concern you, we will begin by asking you about your family and medical history and performing a comprehensive physical exam.  

Patient history

We will ask you if you have any family members with dystonia. We will also ask you to describe your symptoms, by asking a number of questions, including:

• When did you first notice them?
• Do specific activities trigger them?
• Do they improve with rest?

The following tests may help us diagnose dystonia:

• Lab tests. We may order lab tests, including blood and urine tests, and analysis of cerebrospinal fluid.
• EEG and EMG. We may order electromyography (EMG) or electroencephalography (EEG).
• Genetic testing. If your symptoms suggest that you have a specific form of dystonia that is associated with genetic changes, we may order genetic testing.  
• Other tests and screening procedures. We may test for other conditions that produce dystonia-like symptoms in order to rule them out as the cause of your symptoms.

Treatments

.

Although there is no cure for dystonia, there are treatments that can reduce involuntary muscle spasms, pain, and impaired posture. Available treatments include oral and injectable medications, physical therapy, and sometimes surgery. We will develop a treatment plan, in partnership with you, that addresses your specific needs.

Nonmedication Treatments

.

Physical therapy

Our physical therapists will evaluate your symptoms before developing a treatment plan. We will practice exercises and therapies with you during your appointments with us as well as recommend techniques and classes that you can try on your own.

• Exercises. We will teach you specific stretching and strengthening exercises that can help you relax, and regain control of, your muscles. We can also recommend exercise classes designed to improve flexibility and strengthen muscles. These include yoga, Pilates, and/or Feldenkrais classes, which we offer at many of our medical centers.
• Water exercise. Exercise in warm water can relieve dystonic symptoms, help improve your balance, and strengthen the muscles that control posture. We can instruct you in exercises and movements that you can practice in the pool.
• Cooling. We can show you how to cool stiff or painful muscles with ice packs. 
• Splints. We may recommend restraining a limb in a splint to help prevent it from becoming permanently deformed. Temporary splints can also help you to regain movement control over an affected limb.
• Sensory stimulus. Sometimes people with dystonia find that touching an affected body part in a particular way can reduce dystonic contractions.  Many people find that certain movements counteract the contractions. Sometimes you can discover these "tricks" through trial and error. Physical therapists can also help you identify and use sensory tricks to minimize involuntary contractions. Similarly, we can work with you to identify and avoid activities or movements that aggravate your symptoms.
• Speech and/or voice therapy. Many patients with dystonia develop problems with speech. Depending on the type of dystonia, the problems may be caused by contractions in the muscles that control the voice box or the movements of the tongue and mouth. We have a team of experienced speech therapists, and many use a new nonpharmacological therapy to improve voice pitch and enunciation.
• Occupational therapy. We may recommend that you work with an occupational therapist to evaluate your usual daily routine. Although some tasks may seem impossible, an occupational therapist can advise you on how to make modifications to maximize your motor control. An occupational therapist can also suggest ways to adapt your workstation so you can continue to work if you choose to do so.  

Medication Treatments

.

Chemodenervation with botulinum toxin

Botulinum toxin is a chemical that inhibits the transmission of signals between the nerve and muscle, thereby weakening the muscle. Botulinum toxin (Botox and other forms) has been used for a number of years for relieving involuntary muscle spasms and contractions. It has become the gold standard treatment for most focal dystonias and is FDA-approved for treating both blepharospasm and cervical dystonia.

Botulinum toxin is not appropriate for everyone. A physician who specializes in administering botulinum toxin will evaluate you to assess if you are eligible. We will also ask you to provide verbal and written consent before treatment begins. 

Botulinum toxin is injected directly into the affected muscle(s) and may take up to 10 days to be effective. Some physicians perform an electromyography (EMG) test immediately before administering botulinum toxin. EMG measures electrical activity in your muscles and helps identify the optimal part of the muscle to inject. The effects usually last for 3 months. If botulinum toxin is a beneficial treatment for you, we will repeat the injections every 3 to 4 months to help control your symptoms. 

Oral medications

We use a number of medications to treat dystonia. They include the following classes of drugs:

• Anticholinergics. These medications relax muscle spasms. We don't prescribe these drugs for elderly patients or those with dementia, because they can cause increased confusion. Other potential side effects include dry mouth, sedation, delirium, hallucinations, constipation, and urinary retention.
• Benzodiazepines. These medications, which include diazepam (Valium) and clonazepam (Klonopin), disrupt communications between nerve cells. As a result, they can be used to relax muscles and reduce other dystonic symptoms. Many people feel drowsy while taking these medications. We will monitor your response and adjust the dose accordingly. Sometimes a high dose is required to achieve a significant effect on the symptoms. People taking high doses have experienced depression, mood swings, and gait imbalance.
• Baclofen. This medication is a muscle relaxant commonly used in multiple sclerosis and stroke patients. Some people with dystonia, though not all, will respond to this medication. Side effects include sedation and altered cognition.
• Dopamine/levodopa. Dopamine is an effective treatment for a specific from of dystonia called dopa-responsive dystonia. Side effects include nausea, vomiting, dizziness, and orthostatic hypotension (lowering of blood pressure upon standing).
  

Surgery

.

Deep brain stimulation (DBS)

Deep brain stimulation involves placing a thin insulated wire (electrode) deep into the brain in the area responsible for your symptoms. The electrode is connected by an extension wire to a small neurostimulator (battery) similar to a heart pacemaker. The neurostimulator is then implanted in the chest wall under the skin. The neurostimulator is programmed to deliver electrical stimulation to the area of the brain that may be causing involuntary muscle contractions.

DBS is a highly invasive neurosurgical procedure that was originally developed as a treatment for inherited tremor disorders and Parkinson's disease. We usually recommend it only for people with some forms of intractable dystonia. DBS seems to be most effective for people with primary generalized dystonia, particularly those with genetic dystonia.  

If you have intractable dystonia, we will refer you to a movement disorders neurologist who will evaluate your symptoms and general overall health to determine if you are eligible for this form of treatment.

Selective perhipheral denervation (Bertrand procedure)

This form of surgical treatment involves partially cutting or removing selected nerves at the point where they enter the dystonic muscle. Some studies indicate that some patients relapse after receiving this treatment. We do not currently perform this treatment at Kaiser Permanente.

Your Care with Me

.

If you are having symptoms that concern you, your first contact will typically be with your personal physician, who will evaluate your health and symptoms.

If specialty care is needed, your personal physician will facilitate the process of scheduling an appointment in my department. If appropriate, she or he might call me or one of my colleagues while you are in the office so we can all discuss your care together. If we decide you need an appointment with me after that discussion, we can often schedule it the same day or soon thereafter.

During your office visit, we will discuss your medical and family history and I will perform a physical exam. I will explain the findings of your exam and answer any questions or concerns you may have. We will discuss treatment options, and together we will create a treatment plan that is right for you.

.

.

If you need to talk with me after your visit or procedure, please call my office. You can also e-mail me with nonurgent issues from this website whenever it is convenient for you.

If you have urgent concerns or issues while my office is closed, or need general medical advice, you can call the Appointment and Advice line, available 24 hours a day, 7 days a week. You will be connected with a nurse who can give you immediate advice.

If you are experiencing a serious problem or an emergency, call 911 or go to the nearest Emergency Room when the clinic is not open.

.

Coordinating Your Care

.

Having all of our Kaiser Permanente departments located together or nearby, including pharmacy, laboratory, radiology, and health education, makes getting your care easier for you.

Another major benefit is our comprehensive electronic medical record system, which allows all of the doctors and clinicians involved in your care to stay connected on your health status and collaborate with each other as appropriate.

When every member of the health care team is aware of all aspects of your condition, care is safer and more effective.

If you come to an office visit

• At the beginning of your visit, you will receive information about when you are due for your next test, screening, or immunization. We can discuss and schedule any preventive tests that you need. 
• At the end of your visit, you may receive a document called the “After Visit Summary” that will summarize the issues we discussed during your visit. You can refer to it if you forget what we discussed, or if you just want to recheck your vital signs and weight. You can also view it online under Past Visits.
• To help you prepare for your visit, please see additional details under Office Visit. 

If I prescribe medications

We will work together to monitor and assess how your medications are working and make adjustments over time. Prescriptions can be filled at any Kaiser Permanente pharmacy. Just let me know which pharmacy works best for you, and I will send the prescription electronically in advance of your arrival at the pharmacy.

If refills are needed in the future, you can:

• Order them online or by phone. Order future refills from my home page or by phone using the pharmacy refill number on your prescription label.
• Have them delivered to you by mail at no extra cost. Or you can pick up your medications at the pharmacy. If no refills remain when you place your order, the pharmacy will contact me regarding your prescription.

If lab testing or imaging is needed

For lab tests, I will use our electronic medical record system to send the requisition to the Kaiser Permanente laboratory of your choice. For imaging procedures, we will schedule an appointment with the Radiology department. When the results are ready, I will contact you with your results by letter, secure e-mail message, or phone. In addition, you can view most of your laboratory results online, along with any comments that I have attached to explain them.

If I refer you to another specialty colleague

If we decide together that your condition would also benefit from the care of other types of specialists, our staff will help arrange the appointment(s) with one or more of my specialty colleagues.

If surgery or a procedure is a treatment option

I will recommend that you review educational information and tools to help you prepare for your procedure or surgery. The information will often help you decide whether surgery is right for you. If you decide to have a surgery or procedure, the information will provide details about how to prepare and what to expect.

If we proceed with surgery, I will have my Surgery Scheduler contact you to determine a surgery date and provide you with additional instructions regarding your procedure. Once your surgery is scheduled, a medical colleague of mine will contact you to conduct a preoperative medical evaluation that will assure that you are properly prepared for your surgery.

.

Convenient Resources for You

.

As your specialist, I have a goal to provide high-quality care and to offer you choices that make your health care convenient. I recommend that you become familiar with the many resources we offer so that you can choose the services that work best for you.

My Doctor Online is available at any time that is most convenient for you. From my home page you can:

Manage your care securely

• View and compose secure e-mail messages.
• Manage your prescriptions.
• View your past visits and test results.
• View your preventive services to see whether you are due for a routine screening or updated immunization.

Learn more about your condition

• Read about causes, symptoms, treatments, and procedures.
• Find interactive health tools, videos, and podcasts to help you manage your condition.
• View programs to help you decide on or prepare for a surgery or procedure.

Stay healthy

• Locate health education classes and support groups offered at every medical center.
• Explore interactive programs, videos, and podcasts that focus on helping you stay healthy.
• View your Preventive Services to see whether you are due for a routine screening or updated immunization.

.