In most cases, no abnormalities are visible using magnetic resonance imaging or other diagnostic imaging. Idiopathic dystonia refers to dystonia that does not have a clear cause. Many instances of dystonia are idiopathic. There are several genetic causes of dystonia. Symptoms may vary widely in type and severity even among members of the same family. In some instances, people who inherit the defective gene may not develop dystonia.
Having one mutated gene appears to be sufficient to cause the chemical imbalances that may lead to dystonia, but other genetic or even environmental factors may play a role.
Forms of dystonia for which the genetic cause is known include:. Recently, researchers have identified other genetic causes of dystonia, including one resulting from mutations in the DYT6 gene.
Dystonia caused by DYT6 mutations often presents as cranial dystonia, cervical dystonia, or arm dystonia. Rarely, a leg is affected at the onset. Many other genes that cause dystonic syndromes have been found, and numerous genetic variants are known.
Some other important genetic causes of dystonia include mutations in the following genes: DYT3 , which causes dystonia associated with parkinsonism; DYT11 , which causes dystonia associated with myoclonus brief contractions of muscles ; DYT12 , which causes rapid onset dystonia associated with parkinsonism, and DYT28 , which is associated with childhood onset dystonia.
Acquired dystonia , also called secondary dystonia, results from environmental or other damage to the brain, or from exposure to certain types of medications. Some causes of acquired dystonia include birth injury including hypoxia, a lack of oxygen to the brain, and neonatal brain hemorrhage , certain infections, reactions to certain drugs, heavy metal or carbon monoxide poisoning, trauma, or stroke.
Acquired dystonia often plateaus and does not spread to other parts of the body. Dystonia that occurs as a result of medications often ceases if the medications are stopped quickly. Dystonia can be a symptom of other diseases, some of which may be hereditary.
Dystonia can occur at any age, but genetic and idiopathic dystonia are often divided as either early, or childhood onset, versus adult onset. Dystonia often progresses through various stages. Initially, dystonic movements may be intermittent and appear only during voluntary movements or stress.
Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonia can be associated with fixed postures and shortening of tendons. There are many different forms of dystonia. Within Axis I, some are grouped by the regions of the body which they affect:. Cervical dystonia , also called spasmodic torticollis or torticollis , is the most common of the focal dystonias.
The muscles in the neck that control the position of the head are affected, causing the head to turn to one side or to be pulled forward or backward. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild. Some people inherit dystonia. Others have it because of another disease. Researchers think that dystonia may be due to a problem in the part of the brain that handles messages about muscle contractions.
There is no cure. Doctors use medicines, Botox injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain. The information on this site should not be used as a substitute for professional medical care or advice.
It may get worse for a few years but then remain steady. Occasionally, it can improve over time. You can get support if you live with dystonia from Dystonia UK. Page last reviewed: 01 March Next review due: 01 March Check if you have dystonia Dystonia can affect your whole body or just 1 part. It can start at any age. Symptoms of dystonia include: uncontrolled muscle cramps and spasms parts of your body twisting into unusual positions — such as your neck being twisted to the side or your feet turning inwards shaking tremors uncontrolled blinking The symptoms may be continuous or come and go.
What can trigger dystonia symptoms tiredness stress drinking alcohol or caffeine talking eating or chewing activities like writing, typing or playing an instrument. Non-urgent advice: See a GP if:. Main types of dystonia and areas affected Type Area affected Generalised dystonia most of the body Myoclonus dystonia arms, neck and torso Cervical dystonia torticollis neck only Blepharospasm eyes Laryngeal dystonia voice box larynx Task-specific dystonia writer's cramp arms and wrists Oromandibular dystonia lower face, tongue or jaw.
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