Dystonia
Dystonia is a movement disorder in which your muscles contract involuntarily, causing repetitive or twisting movements. As many as 250,000 people in the United States have dystonia, making it the third most common movement disorder behind essential tremor and Parkinson’s disease.
The condition can affect one part of your body (focal dystonia), two or more adjacent parts (segmental dystonia) or all parts of your body (generalised dystonia). The muscle spasms can range from mild to severe. They may be painful, and they can interfere with your performance of day-to-day tasks.
Dystonia results from abnormal functioning of the basal ganglia, a deep part of the brain which helps control coordination of movement. These regions of the brain control the speed and fluidity of movement and prevent unwanted movements. Patients with dystonia may experience uncontrollable twisting, repetitive movements or abnormal postures and positions. These can affect any part of the body, including the arms, legs, trunk, face and vocal cords.
Symptoms
Dystonia affects different people in varying ways. Muscle contractions might:
Begin in a single area, such as your leg, neck or arm. Focal dystonia that begins after age 21 usually starts in the neck, arm or face and tends to remain focal or segmental.
Occur during a specific action, such as handwriting.
Worsen with stress, fatigue or anxiety.
Become more noticeable over time.
Areas of the body that can be affected include:
Neck (cervical dystonia). Contractions cause your head to twist and turn to one side, or pull forward or backward, sometimes causing pain.
Eyelids. Rapid blinking or involuntary spasms cause your eyes to close (blepharospasms) and make it difficult for you to see. Spasms usually aren't painful but might increase when you're in bright light, under stress or interacting with people. Your eyes might feel dry.
Jaw or tongue (oromandibular dystonia). You might experience slurred speech, drooling, and difficulty chewing or swallowing. Oromandibular dystonia can be painful and often occurs in combination with cervical dystonia or blepharospasms.
Voice box and vocal cords (spasmodic dystonia). You might have a tight or whispering voice
Hand, forearm and legs. Some types of dystonia occur only while you do a repetitive activity, such as writing (writer's dystonia) or playing a specific musical instrument (musician's dystonia).
Tremors: Sometimes the dystonia occur with mild to moderate tremors. It may be pronounced in specific actions
When & How to Seek Medical Care
Early signs of dystonia often are mild, infrequent and linked to a specific activity. See your doctor if you are experiencing involuntary muscle contractions.
Testing & Diagnosis
There is no definitive test for dystonia but it can be clinically diagnosed by the symptoms and performing a neurological exam. Sometimes tests such as a brain MRI to make sure something else is not causing the symptoms. For patients with early-onset dystonia or those with an affected relative, genetic testing may help to find out the diagnosis.
Treatment
There is no cure for dystonia and treatment is therefore directed at relieving symptoms. There is a three-tiered approach to treating dystonia: several types of medication and surgery. These may be used alone or in combination. Medications and botox can both help block the communication between the nerve and the muscle and may lessen abnormal movements and postures.
Surgical treatment may be considered if medications and other treatments are not providing adequate relief, and if the symptoms negatively affect quality of life. The mainstay of surgical treatment for dystonia is deep brain stimulation (DBS). During DBS surgery, a battery-powered stimulator similar to a pacemaker is implanted in the body and delivers electrical stimulation to the areas of the brain responsible for causing dystonia symptoms. The stimulation to the brain is adjusted by remote control to achieve the appropriate settings for each individual patient.
DBS has replaced other surgical techniques such as stereotactic thalamotomy, pallidotomy, and cervical rhizotomy because of its success and lower risk for side effects.