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A dystonia is a neurological movement disorder that causes specific muscles to contract and spasm involuntarily. These contractions may result in painful jerking and twisting movements that interfere with your daily activities. Some people experience occasional mild symptoms that go away with rest. More severe cases may result in muscles becoming permanently distorted.
There are many different types of dystonias, which can be grouped or classified in a number of ways. Sometimes, dystonias are classified by age of onset. For example, dystonias that develop in the first or second decade of life are classified as early onset. They can also be grouped according to the area(s) of the body affected. For example, focal dystonias affect one area of the body, whereas generalized dystonias can affect multiple areas.
Dystonias can be classified as primary or secondary. When no obvious cause or related condition is implicated, we call the condition primary dystonia. Secondary dystonias are caused by another disease or condition such as Parkinson's disease or a brain injury.
Diagnosing the type of dystonia accurately is important so that we can develop the most effective treatment plan for you. Although there is no cure for dystonia yet, treatments are available to control the symptoms, including oral medication, physical therapy, chemodenervation with botulinum toxin, and, in severe cases, brain surgery.
There are many different types of dystonias. Some dystonias affect a specific area of the body:
Other types affect certain age groups and/or feature specific symptom patterns:
The following forms of dystonia affect children and adolescents more than adults:
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.
The following factors can increase your risk of developing dystonia:
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.
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.
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:
The following tests may help us diagnose dystonia:
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.
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.
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.
We use a number of medications to treat dystonia. They include the following classes of drugs:
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.
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.
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.
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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.
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.
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 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.
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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.
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.
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