What is dystonia?
Dystonia is a movement disorder that causes excessive muscle contractions. These muscle contractions are not under the control of the person (involuntary) and result in twisting movements that place the body in abnormal, sometimes painful postures.
Dystonia can affect one or more muscles in any area/multiple areas of the body, including the face, jaw, neck, eyelids, vocal cords, arms, hands, torso, legs and feet. The areas affected and the severity of the disorder vary from person to person.
Are there different types of dystonia?
Dystonia can be divided into three groups: idiopathic, genetic, and acquired.
Idiopathic dystonia is dystonia whose cause remains unknown. Many people with dystonia fall into this category.
Genetic dystonia is dystonia caused by inheriting (passed down from a parent) an abnormal gene.
Acquired dystonia (formerly called secondary dystonia) are those that develop from other factors that cause damage or degeneration of the brain. One of these other factors is other neurologic conditions, of which dystonia is a major symptom, such as:
- Huntington’s disease.
- Wilson’s disease.
- Parkinson’s disease.
- Leigh’s disease.
- Hallorvorden-Spatz syndrome (also known as neurodegeneration with brain iron accumulation or pantothenate kinase-associated neurodegeneration).
- Corticobasal degeneration.
Acquired dystonia also develops due to other factors including:
- Exposure to certain medicines, such as dopamine-receptor blockers (used to treat acute and tardive dystonia).
- Brain diseases, conditions, and infections, such as cerebral palsy, stroke, encephalitis, brain tumor, lack of oxygen to the brain, cerebrovascular disease, trauma to the brain.
- Toxins (poisons) such as manganese, cyanide, and 3-nitroproprionic acid.
Who gets dystonia?
Anyone can get dystonia – men, women and children of all races and ethnic backgrounds. Approximately 250,000 people in the United States have dystonia. About one-third of people with dystonia are children. Dystonia is the third most common movement disorder, following essential tremor and Parkinson’s disease.
Patients whose symptoms begin under the age of 21 are more likely to experience dystonia throughout their whole body. Dystonia tends to begin in the upper body in patients whose dystonia begins after age 21.
Symptoms and Causes
What causes dystonia?
For many patients, the cause of dystonia is unknown. Of known causes, dystonia can occur due to:
- Heredity (abnormal genes passed down from parents).
- Birth injury.
- Medications, including some antipsychotic and anti-nausea medications.
- Neurological diseases, such as parkinson’s, multiple sclerosis.
What are the signs and symptoms of dystonia?
Signs and symptoms of dystonia include:
- Muscle contractions that result in flexed or twisted movements and abnormal positions.
- Pain that results from abnormal movements and postures.
- Muscle movements and abnormal body positions that repeat, sometimes resembling a tremor.
- Muscle movements that may begin in one area of the body and, in time, spread to other areas.
- Muscle movements and abnormal postures that worsen with extended periods of exertion, fatigue or stress.
- Voluntary muscle movement on one side of the body that cause dystonia symptoms on the opposite side.
- Handwriting begins to be sloppy.
- Foot cramps.
- Dragging the foot after walking or running for a period of time.
- Voice or speech difficulties.
Diagnosis and Tests
How is dystonia diagnosed?
Dystonia is diagnosed based on findings from family history, medical history, physical and neurologic exam and your physician’s (neurologist) real-time observation of your symptoms. Your doctor may order tests, including laboratory tests, imaging studies and electrical tests (EEG or EMG) to rule out other conditions and diseases that cause similar symptoms. (Dystonia symptoms can be confused with muscle cramps/contractures, scoliosis, tics, torticollis, essential tremor.) Your doctor may also order genetic testing if there is a family history of dystonia.
Management and Treatment
How is dystonia treated?
The most important point is that treatment must be tailored to each person based on type of dystonia, its cause, muscles affected and severity of symptoms. The goal of treatment is to reduce symptoms and ease pain. Treatments can include:
- Botulinum toxin injection. This toxin, injected into the affected muscle, temporarily weakens the affected muscles and eases symptoms. Injections are effective for several months.
- Medications. Muscle relaxants or drugs to prevent muscle spasms are commonly tried. These medications include carbidopa-levodopa (Rytary®, Sinemet®, Duopa®), tetrabenazine (Xenazine®), trihexyphenidyl (Artane®), benztropine (Cogentin®), baclofen (Lioresal®]), diazepam (Valium®) and clonazepam (Klonopin®).
- Physical, occupational and speech therapy. Physical therapy can help you stay flexible, improve your range of motion, strengthen muscles, relieve pain and prevent severe contractions. Occupational therapy can teach you new ways to do everyday tasks. Speech therapists can help those who have difficulty swallowing or who have voice problems.
- Surgery. Deep brain stimulation (DBS) is the most common surgical treatment. This surgery involves positioning electrodes in the globus pallidus area of the brain, which are then attached to a pacemaker-like device implanted in the upper chest under the collar bone. The electrical pulses disrupt brain signals that cause symptoms. DBS is recommended for certain types of patients with dystonia (most commonly those with genetic and cervical dystonia) and others in whom medication was not effective in reducing symptoms or in whom side effects are too severe and symptoms are causing a decline in quality of life. Other brain surgeries, thalamotomy and pallidotomy, purposely and permanently damage a small area of brain tissue to interrupt pathways responsible for the abnormal movements. Other surgeries cut or remove nerves near the contracting muscles.
- Stress management includes such techniques as meditation, relaxation training, Tai chi, yoga and others. Some patients find these methods helpful.
- “Sensory trick.” This is an easy technique in which the person with dystonia gently touches the affected area of the body or area next to it. Researchers believe the touch causes a temporary change in muscle activity, which relieves the dystonia.
Can dystonia be prevented?
Because the cause of most cases of primary dystonia are not known, it is not preventable.
Outlook / Prognosis
What’s the outlook (prognosis) for people with dystonia?
If dystonia begins in childhood, it is more likely that symptoms will spread to other body areas. If dystonia begins in adulthood, it usually affects one area. If it does spread, it usually spreads to an adjacent (next to) area.
Dystonia symptoms and their severity can vary day to day and from person to person.
Botulinum toxin injections, medications and surgery have all been shown to be effective in treating dystonia. Choice of treatment option depends on type of dystonia, underlying cause, muscles involved and severity of symptoms. Deep brain stimulation is generally considered only after injections and medications have failed to provide adequate relief and symptoms continue to interfere with quality of life.
Dystonias are often described by the region in which they occur or by the muscles affects.
By region of the body. Focal dystonia involves one area of the body only, such as an arm. Segmental dystonia involves two or more adjacent (next to each other) areas, such as the neck and an arm. Multifocal dystonia affects two or more areas that are not adjacent. Hemidystonia involves one side of the body. Generalized dystonia is widespread, involving areas all over the body.
By muscle group. Focal dystonia can be described by the muscles affected. Examples include the following: Limb dystonia affects arms, legs, hands or feet. Cervical dystonia (also called spasmodic torticollis) affects the muscles of the head and neck. Laryngeal dystonia affects the vocal cords. Oromandibular dystonia affects the muscles of the face, mouth and jaw. Blepharospasm is the involuntary contraction of the eyelids.
- The Bachmann-Strauss Dystonia & Parkinson Foundation. Patients helping patients blog. http://www.dystonia-parkinsons.org/patients-helping-patients
- Dystonia Medical Research Foundation. Find support. https://dystonia-foundation.org/living-dystonia/support/
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