Dystonia
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Dystonia is a movement disorder in which faulty signals from the brain cause parts of the body to twist, jerk or assume unusual postures. At Columbia University Medical Center/NewYork-Presbyterian Hospital, our Center for Movement Disorders provides evaluation, medication, and—for patients with disabling dystonia that has resisted other treatments—state-of-the-art surgery for dystonia using Deep Brain Stimulation.
Symptoms
The movements caused by dystonia are often slow, repetitive and painful.
Dystonia can affect any part of the body, including the hands and feet, arms and legs, trunk, neck, eyelids, face or vocal cords. Initial symptoms may be mild and intermittent. They may be present only when performing specific actions or under specific conditions, such as stress or fatigue. Over time, symptoms may become more severe and/or spread to other body parts.
Dystonias are often classified by the body parts they affect:
- Focal dystonia: Affects one specific part of the body (see below for examples of focal dystonias)
- Multifocal dystonia: Affects specific parts of the body that are not adjacent (for example, both the hand and the neck)
- Segmental dystonia: Affects two or more adjacent parts of the body (for example, the hand and the arm)
- Hemidystonia: Affects an arm and leg on the same side of the body
- Generalized dystonia: Affects most or all of the body
Some focal dystonias have their own names:
- Torticollis: Dystonia in the neck that causes the head to turn or to move forward, backward or toward the shoulder. The most common focal dystonia, torticollis usually begins in middle age. About 10 percent of patients may experience a sudden end to their symptoms, but unfortunately, this remission is not usually long-lasting. Also called spasmodic torticollis, or cervical dystonia for its effect on the cervical spine, or neck.
- Blepharospasm: Dystonia that affects eye blinks. Blinking may be frequent, or eyelids may close completely and remain closed. Blepharospasm is the second most common focal dystonia.
- Oroniandibular dystonia: Affects the muscles of the jaw, lips and tongue. This form of dystonia can affect opening and closing the jaw, speech and swallowing.
- Laryngeal dystonia: Affects the muscles that control the vocal cords. Speech may be strained or breathy. Also called spasmodic dysphonia.
- Task-specific dystonias: Writer ’s cramp occurs during handwriting, and musician’s dystonia affects a musician’s ability to play or perform.
Diagnosis
Dystonia takes so many forms and has so many underlying causes, and its onset can be so slow, that it is commonly misdiagnosed by non-specialists.
The first steps in diagnosing dystonia are usually conducting a physical examination and taking a medical history. In the medical history, the doctor will be especially interested in getting a complete list of any drugs and medications the patient has taken, and in discovering whether there is any family history of movement disorders.
Blood tests or brain scans are sometimes helpful in identifying the underlying cause of the condition.
Risk Factors
There are several possible causes of dystonia. These include:
- Inherited conditions
- Certain medications, including caffeine and some antiepileptics, antipsychotics, antidepressants, antiemeties, antihistamines, amphetamines and oral contraceptives
- Ischemic stroke
- Hemorrhagic stroke
- Arteriovenous malformation
- Brain tumor
- Other disorders, such as Huntington disease, Parkinson disease or Wilson disease
Dystonia is believed to stem from abnormal functioning of the basal ganglia, deep brain structures that assist in the initiation and regulation of movement. Some forms of dystonia are caused by physical injury to the basal ga iglia. An imbalance of dopamine may form the basis of other forms of dystonia. Research is ongoing to improve scientists’ understanding of the brain mechanisms involved with dystonia.
Dystonia is the third most common movement disorder (after Parkinson disease and essential tremor), affecting more than 300,000 people in North America.
Treatments
There is currently no known cure for dystonia, so treatment focuses on minimizing its symptoms.
Establishing a satisfactory treatment regimen tends to require patience on the part of the affected individual and his or her care team. Often, medications must be tried to see how well they work for an individual patient, and whether the benefits of a treatment outweigh its side effects. Many oral medications can help treat the symptoms of dystonia, as can botulinum toxin injections.
At the Center for Movement Disorders, our highly experienced team uses surgery to help treat dystonias that have resisted other treatments. Our neurologists and neurosurgeons work together to determine which patients may be helped by surgery such as Deep Brain Stimulation (DBS).
In Deep Brain Stimulation, surgeons implant a small electrode deep within the brain. The electrode is connected to a small electrical device implanted under the skin. When turned on and calibrated, the electrical device interrupts the incorrect signals in the brain that cause dystonia.
At the Center for Movement Disorders, we perform approximately 50 such operations per year. We provide complete care to all patients through every stage of the process. Our team begins with patient education and pre-operative screening, performs the intra-operative brain mapping and surgery, and provides post-operative care and stimulator adjustments.